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Gene: GJA3 (gap junction protein alpha 3) Homo sapiens

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Symbol:

GJA3

Name:

gap junction protein alpha 3

RGD ID:

1349664

HGNC Page

HGNC:4277

Description:

Enables gap junction hemi-channel activity. Involved in gap junction-mediated intercellular transport. Located in plasma membrane. Part of connexin complex. Implicated in cataract 14 multiple types.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cataract, zonular pulverulent 2; connexin 46; connexin-46; CTRCT14; CX46; CZP2; CZP3; gap junction alpha 3; gap junction alpha-3 protein; gap junction protein, alpha 3, 46kDa; gap junction protein, alpha 3, 46kda (connexin 46)

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Gja3 (gap junction protein, alpha 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Gja3 (gap junction protein, alpha 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Pan paniscus (bonobo/pygmy chimpanzee):	GJA3 (gap junction protein alpha 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	GJA3 (gap junction protein alpha 3)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gja3 (gap junction protein alpha 3)	NCBI	Ortholog
Sus scrofa (pig):	GJA3 (gap junction protein alpha 3)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	GJA3 (gap junction protein alpha 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gja3 (gap junction protein alpha 3)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Tom1 (target of myb1 membrane trafficking protein)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gja3 (gap junction protein, alpha 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gja3 (gap junction protein, alpha 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	gja3 (gap junction protein, alpha 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	gja3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	gja3.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	gja3.L	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	20,138,255 - 20,161,565 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	20,138,255 - 20,161,052 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	20,712,394 - 20,735,191 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	19,610,394 - 19,633,183 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	19,614,119 - 19,615,427	NCBI
Celera	13	1,774,203 - 1,796,991 (-)	NCBI		Celera
Cytogenetic Map	13	q12.11	NCBI
HuRef	13	1,517,843 - 1,540,632 (-)	NCBI		HuRef
CHM1_1	13	20,680,889 - 20,703,688 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	19,334,689 - 19,357,997 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	cataract		ISO	Gja3 (Rattus norvegicus)	1599824	DNA:missense mutation	RGD
GJA3	Human	Cataract, Autosomal Dominant Nuclear		IAGP		1578473	DNA:missense mutation:cds:p.N188T (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	autosomal dominant nonsyndromic deafness 3B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 3b	ClinVar	PMID:28492532
GJA3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1A	ClinVar	PMID:28492532
GJA3	Human	autosomal recessive nonsyndromic deafness 1B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1b	ClinVar	PMID:28492532
GJA3	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:17615540 more ...
GJA3	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:21031021 more ...
GJA3	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:25741868 and PMID:36161833
GJA3	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:15208569 more ...
GJA3	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:25741868 and PMID:28839118
GJA3	Human	cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:16885921 more ...
GJA3	Human	cataract 1 multiple types		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Zonular Pulverulent Cataract	ClinVar
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:22876138 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:17615540 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:34014271
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:16885921 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:21552498 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:10205266 and PMID:28492532
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:23734083 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:10205266 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:32384692
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25549162 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:20431721 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:24319337 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:16234473 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:21031021 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:25741868 and PMID:28839118
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:10746562 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:16254549 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:24728566 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:23734083 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:23592915 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:25741868 and PMID:36161833
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:21647269 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25148791 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:29461512
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:16254549 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:16885921 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:16971895 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:35008666
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:15208569 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:21866213 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:15448617 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:21681855 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:33923544
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:17893674 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:25741868 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:28546921
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:10205266 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:14627959 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:15286166 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:21552498 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25148791 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:22550389 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25148791 more ...
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25635993 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:35052368
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:29461140
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:30076350
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:26683566
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:25741868 and PMID:31618082
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:22312188 and PMID:25741868
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:15286166 and PMID:28492532
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 14 multiple types	ClinVar	PMID:22550389 and PMID:28492532
GJA3	Human	cataract 14 multiple types		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Zonular pulverulent cataract 3	ClinVar	PMID:16885921 more ...
GJA3	Human	Clouston syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia	ClinVar	PMID:28492532
GJA3	Human	Congenital Cataracts, Facial Dysmorphism, and Neuropathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital Cataracts more ...	ClinVar	PMID:21031021 more ...
GJA3	Human	ectodermal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia	ClinVar	PMID:28492532
GJA3	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
GJA3	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
GJA3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	cataract 14 multiple types		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	cataract 14 multiple types		ISS	Gja3 (Mus musculus)	13592920	OMIM:601885	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	cataract 14 multiple types		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	1,2-dimethylhydrazine	decreases expression	ISO	Gja3 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of GJA3 mRNA	CTD	PMID:22206623
GJA3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Gja3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of GJA3 mRNA	CTD	PMID:21570461
GJA3	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	Gja3 (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of GJA3 mRNA	CTD	PMID:26251327
GJA3	Human	4,4'-sulfonyldiphenol	increases methylation	ISO	Gja3 (Mus musculus)	6480464	bisphenol S results in increased methylation of GJA3 promoter	CTD	PMID:33297965
GJA3	Human	6-propyl-2-thiouracil	decreases expression	ISO	Gja3 (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of GJA3 mRNA	CTD	PMID:24780913
GJA3	Human	acrylamide	decreases expression	ISO	Gja3 (Rattus norvegicus)	6480464	Acrylamide results in decreased expression of GJA3 mRNA	CTD	PMID:28959563
GJA3	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased expression of GJA3 mRNA	CTD	PMID:38460933
GJA3	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of GJA3 mRNA	CTD	PMID:32234424
GJA3	Human	ammonium chloride	affects expression	ISO	Gja3 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of GJA3 mRNA	CTD	PMID:16483693
GJA3	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of GJA3 promoter	CTD	PMID:27901495
GJA3	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of GJA3 mRNA	CTD	PMID:32234424
GJA3	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of GJA3 5' UTR	CTD	PMID:27901495
GJA3	Human	bis(2-chloroethyl) sulfide	increases expression	ISO	Gja3 (Mus musculus)	6480464	Mustard Gas results in increased expression of GJA3 mRNA	CTD	PMID:15674843
GJA3	Human	bisphenol A	increases methylation	EXP		6480464	bisphenol A results in increased methylation of GJA3 gene	CTD	PMID:22576693
GJA3	Human	bisphenol A	decreases expression	ISO	Gja3 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of GJA3 mRNA	CTD	PMID:25181051 and PMID:30816183
GJA3	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of GJA3 mRNA	CTD	PMID:22576693
GJA3	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of GJA3 mRNA	CTD	PMID:26079696
GJA3	Human	choline	multiple interactions	ISO	Gja3 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GJA3 gene	CTD	PMID:20938992
GJA3	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of GJA3 mRNA	CTD	PMID:27392435
GJA3	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of GJA3 mRNA	CTD	PMID:27392435
GJA3	Human	decabromodiphenyl ether	multiple interactions	ISO	Gja3 (Rattus norvegicus)	6480464	[Flame Retardants co-treated with pentabromodiphenyl ether co-treated with decabromobiphenyl ether co-treated with hexabromocyclododecane] results in decreased expression of GJA3 mRNA	CTD	PMID:32207525
GJA3	Human	diclofenac	increases expression	ISO	Gja3 (Mus musculus)	6480464	Diclofenac results in increased expression of GJA3 mRNA	CTD	PMID:26934552
GJA3	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
GJA3	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of GJA3 mRNA	CTD	PMID:29803840
GJA3	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of GJA3 mRNA	CTD	PMID:26272509 and PMID:27188386
GJA3	Human	entinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GJA3 mRNA	CTD	PMID:27188386
GJA3	Human	fenvalerate	increases expression	ISO	Gja3 (Rattus norvegicus)	6480464	fenvalerate results in increased expression of GJA3 mRNA	CTD	PMID:30307764
GJA3	Human	folic acid	multiple interactions	ISO	Gja3 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GJA3 gene	CTD	PMID:20938992
GJA3	Human	folic acid	increases expression	ISO	Gja3 (Mus musculus)	6480464	Folic Acid results in increased expression of GJA3 mRNA	CTD	PMID:25629700
GJA3	Human	fonofos	increases methylation	EXP		6480464	Fonofos results in increased methylation of GJA3 promoter	CTD	PMID:22847954
GJA3	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of GJA3 protein	CTD	PMID:37730182
GJA3	Human	furan	increases methylation	ISO	Gja3 (Rattus norvegicus)	6480464	furan results in increased methylation of GJA3 gene	CTD	PMID:22079235
GJA3	Human	genistein	increases expression	ISO	Gja3 (Mus musculus)	6480464	Genistein results in increased expression of GJA3 mRNA	CTD	PMID:32186404
GJA3	Human	L-methionine	multiple interactions	ISO	Gja3 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GJA3 gene	CTD	PMID:20938992
GJA3	Human	methotrexate	increases expression	EXP		6480464	Methotrexate results in increased expression of GJA3 mRNA	CTD	PMID:24449571
GJA3	Human	N-Nitrosopyrrolidine	increases expression	EXP		6480464	N-Nitrosopyrrolidine results in increased expression of GJA3 mRNA	CTD	PMID:32234424
GJA3	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased expression of GJA3 mRNA	CTD	PMID:38460933
GJA3	Human	O-methyleugenol	increases expression	EXP		6480464	methyleugenol results in increased expression of GJA3 mRNA	CTD	PMID:32234424
GJA3	Human	panobinostat	increases expression	EXP		6480464	panobinostat results in increased expression of GJA3 mRNA	CTD	PMID:26272509
GJA3	Human	panobinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GJA3 mRNA	CTD	PMID:27188386
GJA3	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of GJA3 mRNA	CTD	PMID:29067470
GJA3	Human	paracetamol	increases expression	ISO	Gja3 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of GJA3 mRNA	CTD	PMID:33387578
GJA3	Human	parathion	increases methylation	EXP		6480464	Parathion results in increased methylation of GJA3 promoter	CTD	PMID:22847954
GJA3	Human	pentanal	increases expression	EXP		6480464	pentanal results in increased expression of GJA3 mRNA	CTD	PMID:26079696
GJA3	Human	propanal	increases expression	EXP		6480464	propionaldehyde results in increased expression of GJA3 mRNA	CTD	PMID:26079696
GJA3	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in decreased expression of GJA3 mRNA	CTD	PMID:23557933
GJA3	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
GJA3	Human	silicon dioxide	decreases expression	EXP		6480464	Silicon Dioxide results in decreased expression of GJA3 mRNA	CTD	PMID:34973136
GJA3	Human	sodium fluoride	increases expression	ISO	Gja3 (Mus musculus)	6480464	Sodium Fluoride results in increased expression of GJA3 mRNA	CTD	PMID:27862939
GJA3	Human	terbufos	increases methylation	EXP		6480464	terbufos results in increased methylation of GJA3 promoter	CTD	PMID:22847954
GJA3	Human	titanium dioxide	decreases methylation	ISO	Gja3 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of GJA3 gene	CTD	PMID:35295148
GJA3	Human	trichloroethene	multiple interactions	ISO	Gja3 (Mus musculus)	6480464	PPARA protein inhibits the reaction [Trichloroethylene results in decreased expression of GJA3 mRNA]	CTD	PMID:15363585
GJA3	Human	trichloroethene	increases expression	ISO	Gja3 (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of GJA3 mRNA	CTD	PMID:33387578
GJA3	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of GJA3 mRNA	CTD	PMID:24935251 more ...
GJA3	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GJA3 mRNA	CTD	PMID:27188386
GJA3	Human	triptonide	increases expression	ISO	Gja3 (Mus musculus)	6480464	triptonide results in increased expression of GJA3 mRNA	CTD	PMID:33045310
GJA3	Human	urethane	decreases expression	ISO	Gja3 (Mus musculus)	6480464	Urethane results in decreased expression of GJA3 mRNA and Urethane results in decreased expression of GJA3 protein	CTD	PMID:16926031
GJA3	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of GJA3 gene	CTD	PMID:29154799
GJA3	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of GJA3 mRNA	CTD	PMID:25979313
GJA3	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of GJA3 mRNA	CTD	PMID:23179753 more ...
GJA3	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GJA3 mRNA	CTD	PMID:27188386
GJA3	Human	XL147	multiple interactions	ISO	Gja3 (Mus musculus)	6480464	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of GJA3 mRNA	CTD	PMID:27935865

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	cell communication	involved_in	IEA	InterPro:IPR000500 more ...	150520179		InterPro	GO_REF:0000002
GJA3	Human	cell-cell signaling	involved_in	IBA	MGI:1334209 more ...	150520179		GO_Central	GO_REF:0000033
GJA3	Human	gap junction-mediated intercellular transport	involved_in	IDA		150520179	PMID:30044662	UniProt	PMID:30044662
GJA3	Human	response to hydrogen peroxide		ISO	Gja3 (Rattus norvegicus)	9068941		RGD	PMID:15467523 and REF_RGD_ID:1599825
GJA3	Human	response to pH		ISO	Gja3 (Rattus norvegicus)	9068941		RGD	PMID:11889584 and REF_RGD_ID:1599826
GJA3	Human	transmembrane transport	involved_in	IEA	GO:0005243 and GO:0055077	150520179		GOC	GO_REF:0000108
GJA3	Human	visual perception	involved_in	IEA	InterPro:IPR002262	150520179		InterPro	GO_REF:0000002

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	anchoring junction	located_in	IEA	UniProtKB-KW:KW-0965	150520179		UniProt	GO_REF:0000043
GJA3	Human	connexin complex	part_of	IDA		150520179	PMID:30044662	UniProt	PMID:30044662
GJA3	Human	connexin complex	part_of	IBA	MGI:2384150 more ...	150520179		GO_Central	GO_REF:0000033
GJA3	Human	connexin complex	part_of	IEA	InterPro:IPR000500 and InterPro:IPR017990	150520179		InterPro	GO_REF:0000002
GJA3	Human	gap junction		ISO	Gja3 (Rattus norvegicus)	9068941		RGD	PMID:1659572 and REF_RGD_ID:728416
GJA3	Human	gap junction	located_in	IEA	ARBA:ARBA00028360	150520179		UniProt	GO_REF:0000117
GJA3	Human	gap junction	located_in	IEA	UniProtKB:Q64448 and ensembl:ENSMUSP00000059587	150520179		Ensembl	GO_REF:0000107
GJA3	Human	gap junction	located_in	IEA	UniProtKB-SubCell:SL-0124	150520179		UniProt	GO_REF:0000044
GJA3	Human	gap junction	located_in	IEA	InterPro:IPR002262	150520179		InterPro	GO_REF:0000002
GJA3	Human	gap junction	located_in	IEA	UniProtKB-KW:KW-0303	150520179		UniProt	GO_REF:0000043
GJA3	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
GJA3	Human	plasma membrane	located_in	IEA	UniProtKB:Q64448 and ensembl:ENSMUSP00000059587	150520179		Ensembl	GO_REF:0000107
GJA3	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
GJA3	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
GJA3	Human	plasma membrane	located_in	IDA		150520179	PMID:30044662	UniProt	PMID:30044662

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	gap junction channel activity		ISO	Gja3 (Rattus norvegicus)	9068941		RGD	PMID:1659572 and REF_RGD_ID:728416
GJA3	Human	gap junction channel activity	enables	IEA	InterPro:IPR002262	150520179		InterPro	GO_REF:0000002
GJA3	Human	gap junction channel activity	enables	IBA	MGI:1339969 more ...	150520179		GO_Central	GO_REF:0000033
GJA3	Human	gap junction hemi-channel activity	enables	IDA		150520179	PMID:30044662	UniProt	PMID:30044662
GJA3	Human	identical protein binding		ISO	Gja3 (Rattus norvegicus)	9068941		RGD	PMID:9151687 and REF_RGD_ID:1599827
GJA3	Human	protein binding		ISO	Cav1 (Rattus norvegicus)	9068941		RGD	PMID:15467523 and REF_RGD_ID:1599825

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	Abnormal lens morphology		IAGP		1578473	DNA:missense mutation:cds:p.N188T	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:601885
GJA3	Human	Zonular cataract		IAGP		8699517		HPO	MIM:601885

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJA3	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental cataract	ClinVar	PMID:16885921 more ...
GJA3	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental cataract	ClinVar	PMID:21031021 more ...
GJA3	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental cataract	ClinVar	PMID:25741868 and PMID:36161833
GJA3	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental cataract	ClinVar	PMID:25741868 and PMID:28839118
GJA3	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental cataract	ClinVar	PMID:17615540 more ...
GJA3	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental cataract	ClinVar	PMID:15208569 more ...
GJA3	Human	Hidrotic ectodermal dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.	Li Y, etal., Mol Vis. 2004 Sep 14;10:668-71.
3.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7.	New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation.	Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.

PMID:1849321	PMID:1964417	PMID:7342922	PMID:9199569	PMID:9413992	PMID:9664032	PMID:10205266	PMID:10746562	PMID:11739633	PMID:11980479	PMID:12477932	PMID:12808044
PMID:14627959	PMID:15057823	PMID:15208569	PMID:15286166	PMID:15467523	PMID:15489334	PMID:16254549	PMID:16885921	PMID:16971895	PMID:17492548	PMID:17615540	PMID:17893674
PMID:20013805	PMID:20431721	PMID:21031021	PMID:21386927	PMID:21552498	PMID:21606502	PMID:21647269	PMID:21681855	PMID:21873635	PMID:21897748	PMID:22312188	PMID:22550389
PMID:22825713	PMID:22843197	PMID:22864933	PMID:22876138	PMID:23302783	PMID:23374644	PMID:23592915	PMID:24019978	PMID:24319337	PMID:24728566	PMID:24772942	PMID:25549162
PMID:25635993	PMID:25959821	PMID:25963833	PMID:26018820	PMID:26449341	PMID:26683566	PMID:27143357	PMID:27609163	PMID:27789753	PMID:28088522	PMID:28877251	PMID:29298900
PMID:29934635	PMID:30044662	PMID:30542154	PMID:31034164	PMID:31618082	PMID:32272685	PMID:32353936	PMID:32393512	PMID:32808810	PMID:32971763	PMID:33140904	PMID:33961781
PMID:34226295	PMID:34830485	PMID:36629882	PMID:37589989	PMID:37892142	PMID:38178039

GJA3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	20,138,255 - 20,161,565 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	20,138,255 - 20,161,052 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	20,712,394 - 20,735,191 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	19,610,394 - 19,633,183 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	19,614,119 - 19,615,427	NCBI
Celera	13	1,774,203 - 1,796,991 (-)	NCBI		Celera
Cytogenetic Map	13	q12.11	NCBI
HuRef	13	1,517,843 - 1,540,632 (-)	NCBI		HuRef
CHM1_1	13	20,680,889 - 20,703,688 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	19,334,689 - 19,357,997 (-)	NCBI		T2T-CHM13v2.0

Gja3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	57,271,917 - 57,295,487 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	14	57,271,917 - 57,295,557 (-)	Ensembl		GRCm39 Ensembl
GRCm38	14	57,034,460 - 57,058,030 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	57,034,460 - 57,058,100 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	57,654,497 - 57,676,782 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	14	55,989,770 - 56,012,055 (-)	NCBI		MGSCv36	mm8
Celera	14	54,826,204 - 54,848,538 (-)	NCBI		Celera
Cytogenetic Map	14	C3	NCBI
cM Map	14	29.82	NCBI

Gja3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	15	35,296,946 - 35,322,405 (-)	NCBI		GRCr8
mRatBN7.2	15	31,181,360 - 31,206,820 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	15	31,181,369 - 31,206,810 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	15	33,172,676 - 33,198,138 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	15	34,323,331 - 34,348,793 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	15	32,581,458 - 32,606,917 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	15	37,298,607 - 37,325,370 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	15	37,299,738 - 37,325,178 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	15	41,146,019 - 41,172,888 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	36,052,554 - 36,078,001 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	15	36,068,253 - 36,093,701 (-)	NCBI
Celera	15	30,893,821 - 30,919,252 (-)	NCBI		Celera
Cytogenetic Map	15	p12	NCBI

GJA3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	14	19,771,129 - 19,791,424 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	13	10,875,614 - 10,903,716 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	13	1,464,542 - 1,488,240 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	13	19,780,656 - 19,803,446 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	13	19,784,372 - 19,785,679 (-)	Ensembl	panpan1.1		panPan2

GJA3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	25	17,986,270 - 18,004,344 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	25	18,002,817 - 18,004,160 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	25	18,016,882 - 18,034,847 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	25	18,124,207 - 18,142,180 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	25	18,124,215 - 18,143,066 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	25	17,990,559 - 18,008,503 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	25	18,002,295 - 18,020,235 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	25	18,058,980 - 18,076,953 (+)	NCBI		UU_Cfam_GSD_1.0

Gja3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	120,017,114 - 120,040,168 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936720	1,583,588 - 1,584,904 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936720	1,564,680 - 1,586,379 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GJA3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	11	750,658 - 751,800 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	11	750,658 - 751,889 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

GJA3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	3	820,352 - 852,003 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	3	846,982 - 848,286 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666057	43,732,906 - 43,755,939 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gja3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624776	17,579,913 - 17,581,121 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624776	17,562,050 - 17,585,308 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GJA3
247 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	copy number gain	See cases [RCV001353184]	Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34	pathogenic
NM_021954.4(GJA3):c.1137dup (p.Ser380fs)	duplication	Cataract 14 multiple types [RCV000018500]	Chr13:20142151..20142152 [GRCh38] Chr13:20716290..20716291 [GRCh37] Chr13:13q12.11	pathogenic
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu)	single nucleotide variant	Cataract 14 multiple types [RCV000542799]	Chr13:20142566 [GRCh38] Chr13:20716705 [GRCh37] Chr13:13q12.11	uncertain significance
NC_000013.10:g.(?_20716100)_(20717447_?)dup	duplication	Cataract 14 multiple types [RCV000529409]	Chr13:20141961..20143308 [GRCh38] Chr13:20716100..20717447 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser)	single nucleotide variant	Cataract 14 multiple types [RCV000018499]	Chr13:20143101 [GRCh38] Chr13:20717240 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu)	single nucleotide variant	Cataract 14 multiple types [RCV000018501]	Chr13:20142729 [GRCh38] Chr13:20716868 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.227G>A (p.Arg76His)	single nucleotide variant	Cataract 14 multiple types [RCV000018502]	Chr13:20143062 [GRCh38] Chr13:20717201 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr)	single nucleotide variant	Cataract 14 multiple types [RCV000043647]	Chr13:20142726 [GRCh38] Chr13:20716865 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)	single nucleotide variant	Cataract 14 multiple types [RCV000043648]	Chr13:20143284 [GRCh38] Chr13:20717423 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)	single nucleotide variant	Cataract 14 multiple types [RCV000043649]	Chr13:20142726 [GRCh38] Chr13:20716865 [GRCh37] Chr13:13q12.11	pathogenic\|uncertain significance
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)	single nucleotide variant	Cataract 14 multiple types [RCV000043650]\|GJA3-related disorder [RCV004755757]	Chr13:20142673 [GRCh38] Chr13:20716812 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic\|uncertain significance
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)	single nucleotide variant	Cataract 14 multiple types [RCV000043651]	Chr13:20142862 [GRCh38] Chr13:20717001 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]\|See cases [RCV000051347]	Chr13:19837195..22574567 [GRCh38] Chr13:20411335..23148706 [GRCh37] Chr13:19309335..22046706 [NCBI36] Chr13:13q12.11	pathogenic
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	copy number loss	See cases [RCV000051348]	Chr13:20026650..21967789 [GRCh38] Chr13:20600790..22541928 [GRCh37] Chr13:19498790..21439928 [NCBI36] Chr13:13q12.11	pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]\|See cases [RCV000052343]	Chr13:19837395..24884509 [GRCh38] Chr13:20411535..25458647 [GRCh37] Chr13:19309535..24356647 [NCBI36] Chr13:13q12.11-12.12	pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	copy number gain	See cases [RCV000053729]	Chr13:18958091..31090460 [GRCh38] Chr13:19532231..31664597 [GRCh37] Chr13:18430231..30562597 [NCBI36] Chr13:13q12.11-12.3	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000053731]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]\|See cases [RCV000053733]	Chr13:19837395..22904755 [GRCh38] Chr13:20411535..23478894 [GRCh37] Chr13:19309535..22376894 [NCBI36] Chr13:13q12.11-12.12	pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	copy number gain	See cases [RCV000053719]	Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	copy number gain	See cases [RCV000053721]	Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3	pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	copy number gain	See cases [RCV000053723]	Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	copy number gain	See cases [RCV000053726]	Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34	pathogenic
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu)	single nucleotide variant	Cataract 14 multiple types [RCV001253147]	Chr13:20143079 [GRCh38] Chr13:20717218 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	copy number gain	See cases [RCV000134104]	Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3	copy number gain	See cases [RCV000135381]	Chr13:19857140..20222070 [GRCh38] Chr13:20431280..20796209 [GRCh37] Chr13:19329280..19694209 [NCBI36] Chr13:13q12.11	uncertain significance
GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	copy number loss	See cases [RCV000134754]	Chr13:19885283..22014498 [GRCh38] Chr13:20459423..22588637 [GRCh37] Chr13:19357423..21486637 [NCBI36] Chr13:13q12.11	pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	copy number loss	See cases [RCV000135610]	Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	copy number loss	See cases [RCV000137093]	Chr13:19837395..21967789 [GRCh38] Chr13:20411535..22541928 [GRCh37] Chr13:19309535..21439928 [NCBI36] Chr13:13q12.11	uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	copy number gain	See cases [RCV000137892]	Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	copy number gain	See cases [RCV000139078]	Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	copy number gain	See cases [RCV000140004]	Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	copy number gain	See cases [RCV000141867]	Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2	pathogenic
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	copy number gain	See cases [RCV000142006]	Chr13:18862146..22489174 [GRCh38] Chr13:19436286..23063313 [GRCh37] Chr13:18334286..21961313 [NCBI36] Chr13:13q11-12.11	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	copy number gain	See cases [RCV000142924]	Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	copy number loss	See cases [RCV000143197]	Chr13:19671934..24985872 [GRCh38] Chr13:20246074..25560010 [GRCh37] Chr13:19144074..24458010 [NCBI36] Chr13:13q12.11-12.13	pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	copy number gain	See cases [RCV000143462]	Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000148126]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	copy number gain	See cases [RCV000240150]	Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34	pathogenic
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)	single nucleotide variant	Cataract 14 multiple types [RCV000546601]\|Developmental cataract [RCV000203321]	Chr13:20143113 [GRCh38] Chr13:20717252 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.7G>C (p.Asp3His)	single nucleotide variant	Cataract 14 multiple types [RCV002225096]\|Developmental cataract [RCV000203361]	Chr13:20143282 [GRCh38] Chr13:20717421 [GRCh37] Chr13:13q12.11	likely pathogenic\|conflicting interpretations of pathogenicity
NM_021954.4(GJA3):c.260C>T (p.Thr87Met)	single nucleotide variant	Cataract 14 multiple types [RCV004589871]\|Developmental cataract [RCV000203373]	Chr13:20143029 [GRCh38] Chr13:20717168 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.895C>A (p.Leu299Met)	single nucleotide variant	Cataract 14 multiple types [RCV000317535]\|not provided [RCV000836676]\|not specified [RCV000253661]	Chr13:20142394 [GRCh38] Chr13:20716533 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.1017G>A (p.Ala339=)	single nucleotide variant	Cataract 14 multiple types [RCV000320501]\|not provided [RCV000836250]\|not specified [RCV000244960]	Chr13:20142272 [GRCh38] Chr13:20716411 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.543C>T (p.Cys181=)	single nucleotide variant	Cataract 14 multiple types [RCV000530487]\|not provided [RCV001668579]\|not specified [RCV000250319]	Chr13:20142746 [GRCh38] Chr13:20716885 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*2870C>T	single nucleotide variant	Cataract 14 multiple types [RCV000301885]	Chr13:20139111 [GRCh38] Chr13:20713250 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.231C>T (p.Phe77=)	single nucleotide variant	Cataract 14 multiple types [RCV000303232]\|GJA3-related disorder [RCV004755867]	Chr13:20143058 [GRCh38] Chr13:20717197 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.-60G>A	single nucleotide variant	Cataract 14 multiple types [RCV000303997]	Chr13:20160932 [GRCh38] Chr13:20735071 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg)	single nucleotide variant	Cataract 14 multiple types [RCV000267109]	Chr13:20142340 [GRCh38] Chr13:20716479 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1257G>A	single nucleotide variant	Cataract 14 multiple types [RCV000303896]\|not provided [RCV004707070]	Chr13:20140724 [GRCh38] Chr13:20714863 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln)	single nucleotide variant	Cataract 14 multiple types [RCV000558856]\|not provided [RCV001573126]	Chr13:20142891 [GRCh38] Chr13:20717030 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*509A>G	single nucleotide variant	Cataract 14 multiple types [RCV000287291]\|not provided [RCV004708323]	Chr13:20141472 [GRCh38] Chr13:20715611 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln)	single nucleotide variant	Cataract 14 multiple types [RCV000287954]	Chr13:20142849 [GRCh38] Chr13:20716988 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*744A>G	single nucleotide variant	Cataract 14 multiple types [RCV000270636]	Chr13:20141237 [GRCh38] Chr13:20715376 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*618G>A	single nucleotide variant	Cataract 14 multiple types [RCV000271712]\|not provided [RCV004708322]	Chr13:20141363 [GRCh38] Chr13:20715502 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*3373del	deletion	Zonular Pulverulent Cataract [RCV000289816]	Chr13:20138608 [GRCh38] Chr13:20712747 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.720G>A (p.Pro240=)	single nucleotide variant	Cataract 14 multiple types [RCV000292821]	Chr13:20142569 [GRCh38] Chr13:20716708 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2602T>C	single nucleotide variant	Cataract 14 multiple types [RCV000357028]\|not provided [RCV004707067]	Chr13:20139379 [GRCh38] Chr13:20713518 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*243G>A	single nucleotide variant	Cataract 14 multiple types [RCV000405527]\|not provided [RCV001672484]	Chr13:20141738 [GRCh38] Chr13:20715877 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*904G>T	single nucleotide variant	Cataract 14 multiple types [RCV000274760]	Chr13:20141077 [GRCh38] Chr13:20715216 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*2416A>G	single nucleotide variant	Cataract 14 multiple types [RCV000277333]	Chr13:20139565 [GRCh38] Chr13:20713704 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*2593A>T	single nucleotide variant	Cataract 14 multiple types [RCV000262170]\|not provided [RCV004708319]	Chr13:20139388 [GRCh38] Chr13:20713527 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*3609G>A	single nucleotide variant	Cataract 14 multiple types [RCV000295754]	Chr13:20138372 [GRCh38] Chr13:20712511 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2831A>G	single nucleotide variant	Cataract 14 multiple types [RCV000261120]\|not provided [RCV004708318]	Chr13:20139150 [GRCh38] Chr13:20713289 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*1351C>T	single nucleotide variant	Cataract 14 multiple types [RCV000390701]	Chr13:20140630 [GRCh38] Chr13:20714769 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*358T>C	single nucleotide variant	Cataract 14 multiple types [RCV000279178]	Chr13:20141623 [GRCh38] Chr13:20715762 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*581A>G	single nucleotide variant	Cataract 14 multiple types [RCV000322021]	Chr13:20141400 [GRCh38] Chr13:20715539 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*491T>A	single nucleotide variant	Cataract 14 multiple types [RCV000323577]	Chr13:20141490 [GRCh38] Chr13:20715629 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.1233C>T (p.Leu411=)	single nucleotide variant	Cataract 14 multiple types [RCV000394570]	Chr13:20142056 [GRCh38] Chr13:20716195 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser)	single nucleotide variant	Cataract 14 multiple types [RCV000282241]	Chr13:20142427 [GRCh38] Chr13:20716566 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1997G>A	single nucleotide variant	Cataract 14 multiple types [RCV000347413]\|not provided [RCV004707069]	Chr13:20139984 [GRCh38] Chr13:20714123 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*691G>A	single nucleotide variant	Cataract 14 multiple types [RCV000325623]	Chr13:20141290 [GRCh38] Chr13:20715429 [GRCh37] Chr13:13q12.11	likely benign\|uncertain significance
NM_021954.4(GJA3):c.*186TG[1]	microsatellite	Zonular Pulverulent Cataract [RCV000349281]\|not provided [RCV001618545]	Chr13:20141792..20141793 [GRCh38] Chr13:20715931..20715932 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr)	single nucleotide variant	Cataract 14 multiple types [RCV000864890]\|not provided [RCV003884461]	Chr13:20142178 [GRCh38] Chr13:20716317 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*2469T>C	single nucleotide variant	Cataract 14 multiple types [RCV000331369]\|not provided [RCV004708320]	Chr13:20139512 [GRCh38] Chr13:20713651 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*3166C>T	single nucleotide variant	Cataract 14 multiple types [RCV000403413]\|not provided [RCV004708316]	Chr13:20138815 [GRCh38] Chr13:20712954 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.375A>G (p.Pro125=)	single nucleotide variant	Cataract 14 multiple types [RCV000872841]\|not provided [RCV002225584]	Chr13:20142914 [GRCh38] Chr13:20717053 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*2311A>C	single nucleotide variant	Cataract 14 multiple types [RCV000332494]	Chr13:20139670 [GRCh38] Chr13:20713809 [GRCh37] Chr13:13q12.11	likely benign\|uncertain significance
NM_021954.4(GJA3):c.*1083T>C	single nucleotide variant	Cataract 14 multiple types [RCV000355487]\|not provided [RCV004707071]	Chr13:20140898 [GRCh38] Chr13:20715037 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu)	single nucleotide variant	Cataract 14 multiple types [RCV000265377]	Chr13:20142207 [GRCh38] Chr13:20716346 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2231A>G	single nucleotide variant	Cataract 14 multiple types [RCV000382347]\|not provided [RCV004707068]	Chr13:20139750 [GRCh38] Chr13:20713889 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*47A>G	single nucleotide variant	Cataract 14 multiple types [RCV000313370]\|not provided [RCV002285309]	Chr13:20141934 [GRCh38] Chr13:20716073 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*1239C>G	single nucleotide variant	Cataract 14 multiple types [RCV000335497]	Chr13:20140742 [GRCh38] Chr13:20714881 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.84G>A (p.Val28=)	single nucleotide variant	Cataract 14 multiple types [RCV000358000]\|GJA3-related disorder [RCV003920300]	Chr13:20143205 [GRCh38] Chr13:20717344 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*2864T>C	single nucleotide variant	Cataract 14 multiple types [RCV000359061]\|not provided [RCV004708317]	Chr13:20139117 [GRCh38] Chr13:20713256 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.*647G>A	single nucleotide variant	Cataract 14 multiple types [RCV000384827]	Chr13:20141334 [GRCh38] Chr13:20715473 [GRCh37] Chr13:13q12.11	likely benign\|uncertain significance
NM_021954.4(GJA3):c.*319G>T	single nucleotide variant	Cataract 14 multiple types [RCV000338663]\|not provided [RCV001711920]	Chr13:20141662 [GRCh38] Chr13:20715801 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu)	single nucleotide variant	Cataract 14 multiple types [RCV000810800]	Chr13:20142276 [GRCh38] Chr13:20716415 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2426C>A	single nucleotide variant	Cataract 14 multiple types [RCV000385799]\|not provided [RCV004708321]	Chr13:20139555 [GRCh38] Chr13:20713694 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.780G>A (p.Arg260=)	single nucleotide variant	Zonular Pulverulent Cataract [RCV000387037]	Chr13:20142509 [GRCh38] Chr13:20716648 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1449C>T	single nucleotide variant	Cataract 14 multiple types [RCV000339090]	Chr13:20140532 [GRCh38] Chr13:20714671 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg)	single nucleotide variant	Cataract 14 multiple types [RCV000363276]\|not provided [RCV004707072]	Chr13:20142055 [GRCh38] Chr13:20716194 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.852C>G (p.Ala284=)	single nucleotide variant	Cataract 14 multiple types [RCV000318629]	Chr13:20142437 [GRCh38] Chr13:20716576 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1083A>C (p.Pro361=)	single nucleotide variant	Cataract 14 multiple types [RCV000364587]\|not provided [RCV001559523]	Chr13:20142206 [GRCh38] Chr13:20716345 [GRCh37] Chr13:13q12.11	benign\|likely benign
NM_021954.4(GJA3):c.-41G>T	single nucleotide variant	Cataract 14 multiple types [RCV000399035]	Chr13:20160913 [GRCh38] Chr13:20735052 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*846G>C	single nucleotide variant	Cataract 14 multiple types [RCV000315301]	Chr13:20141135 [GRCh38] Chr13:20715274 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*3182T>G	single nucleotide variant	Cataract 14 multiple types [RCV000347292]	Chr13:20138799 [GRCh38] Chr13:20712938 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1841C>T	single nucleotide variant	Cataract 14 multiple types [RCV000383348]	Chr13:20140140 [GRCh38] Chr13:20714279 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*3393del	deletion	Zonular Pulverulent Cataract [RCV000348302]	Chr13:20138588 [GRCh38] Chr13:20712727 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*198T>C	single nucleotide variant	Cataract 14 multiple types [RCV000294365]	Chr13:20141783 [GRCh38] Chr13:20715922 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*101G>A	single nucleotide variant	Cataract 14 multiple types [RCV000405223]	Chr13:20141880 [GRCh38] Chr13:20716019 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1565A>G	single nucleotide variant	Zonular Pulverulent Cataract [RCV000284345]	Chr13:20140416 [GRCh38] Chr13:20714555 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*3389G>A	single nucleotide variant	Cataract 14 multiple types [RCV000386478]	Chr13:20138592 [GRCh38] Chr13:20712731 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*3108C>T	single nucleotide variant	Cataract 14 multiple types [RCV000307708]	Chr13:20138873 [GRCh38] Chr13:20713012 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly)	single nucleotide variant	Cataract 14 multiple types [RCV000351043]	Chr13:20142744 [GRCh38] Chr13:20716883 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*846G>A	single nucleotide variant	Cataract 14 multiple types [RCV000369999]	Chr13:20141135 [GRCh38] Chr13:20715274 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2829A>T	single nucleotide variant	Cataract 14 multiple types [RCV000297538]	Chr13:20139152 [GRCh38] Chr13:20713291 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.885G>C (p.Ala295=)	single nucleotide variant	Cataract 14 multiple types [RCV000372141]	Chr13:20142404 [GRCh38] Chr13:20716543 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2079A>G	single nucleotide variant	Cataract 14 multiple types [RCV000287725]	Chr13:20139902 [GRCh38] Chr13:20714041 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.420_434delinsATAGA	indel	Zonular Pulverulent Cataract [RCV000373711]	Chr13:20141547..20141561 [GRCh38] Chr13:20715686..20715700 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.-179C>T	single nucleotide variant	Zonular Pulverulent Cataract [RCV000283434]	Chr13:20161051 [GRCh38] Chr13:20735190 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.*1176A>C	single nucleotide variant	Cataract 14 multiple types [RCV000300528]	Chr13:20140805 [GRCh38] Chr13:20714944 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*3099C>A	single nucleotide variant	Cataract 14 multiple types [RCV000341500]	Chr13:20138882 [GRCh38] Chr13:20713021 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*553C>T	single nucleotide variant	Zonular Pulverulent Cataract [RCV000376663]	Chr13:20141428 [GRCh38] Chr13:20715567 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1232T>C	single nucleotide variant	Cataract 14 multiple types [RCV000395331]	Chr13:20140749 [GRCh38] Chr13:20714888 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2923A>G	single nucleotide variant	Cataract 14 multiple types [RCV000396880]	Chr13:20139058 [GRCh38] Chr13:20713197 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.771C>A (p.Pro257=)	single nucleotide variant	Cataract 14 multiple types [RCV000559920]\|GJA3-related disorder [RCV003915577]	Chr13:20142518 [GRCh38] Chr13:20716657 [GRCh37] Chr13:13q12.11	benign\|likely benign
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	copy number gain	See cases [RCV000449142]	Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:20523271-21972234)x1	copy number loss	See cases [RCV000447580]	Chr13:20523271..21972234 [GRCh37] Chr13:13q12.11	likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	See cases [RCV000445886]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)	copy number gain	See cases [RCV000510405]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q12.11(chr13:20321760-21255354)x3	copy number gain	See cases [RCV000511806]	Chr13:20321760..21255354 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)	single nucleotide variant	Cataract 14 multiple types [RCV004591098]\|Congenital cataracts-facial dysmorphism-neuropathy syndrome [RCV002272192]\|Developmental cataract [RCV000490765]	Chr13:20143233 [GRCh38] Chr13:20717372 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln)	single nucleotide variant	Cataract 14 multiple types [RCV004591099]\|Developmental cataract [RCV000490774]	Chr13:20142823 [GRCh38] Chr13:20716962 [GRCh37] Chr13:13q12.11	pathogenic\|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	copy number gain	See cases [RCV000511880]	Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34	pathogenic
NM_021954.4(GJA3):c.19C>G (p.Leu7Val)	single nucleotide variant	Cataract 14 multiple types [RCV001296617]	Chr13:20143270 [GRCh38] Chr13:20717409 [GRCh37] Chr13:13q12.11	likely benign\|uncertain significance
NM_021954.4(GJA3):c.82G>A (p.Val28Met)	single nucleotide variant	Cataract 14 multiple types [RCV000536966]	Chr13:20143207 [GRCh38] Chr13:20717346 [GRCh37] Chr13:13q12.11	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile)	single nucleotide variant	Cataract 14 multiple types [RCV000644861]	Chr13:20142846 [GRCh38] Chr13:20716985 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1	copy number loss	not provided [RCV000683544]	Chr13:20605484..21759494 [GRCh37] Chr13:13q12.11	likely pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1	copy number loss	not provided [RCV000683564]	Chr13:20008480..25534121 [GRCh37] Chr13:13q12.11-12.13	pathogenic
GRCh37/hg19 13q12.11(chr13:20225257-20776711)x3	copy number gain	not provided [RCV000683530]	Chr13:20225257..20776711 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	copy number gain	not provided [RCV000683572]	Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1	pathogenic
GRCh37/hg19 13q12.11(chr13:20684560-21089219)x3	copy number gain	not provided [RCV000683524]	Chr13:20684560..21089219 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20602613-20868369)x3	copy number gain	not provided [RCV000683507]	Chr13:20602613..20868369 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr)	single nucleotide variant	Cataract 14 multiple types [RCV000688440]	Chr13:20143150 [GRCh38] Chr13:20717289 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3	copy number gain	not provided [RCV000738115]	Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3	copy number gain	not provided [RCV000750643]	Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34	pathogenic
NM_021954.4(GJA3):c.*532A>G	single nucleotide variant	Cataract 14 multiple types [RCV001114944]	Chr13:20141449 [GRCh38] Chr13:20715588 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.672C>T (p.His224=)	single nucleotide variant	Cataract 14 multiple types [RCV002545991]	Chr13:20142617 [GRCh38] Chr13:20716756 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q12.11(chr13:19540031-22849981)	copy number loss	not provided [RCV000767820]	Chr13:19540031..22849981 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala)	single nucleotide variant	Cataract 14 multiple types [RCV001514798]\|GJA3-related disorder [RCV003936225]\|Inborn genetic diseases [RCV002549575]	Chr13:20142229 [GRCh38] Chr13:20716368 [GRCh37] Chr13:13q12.11	benign\|likely benign\|uncertain significance
NM_021954.4(GJA3):c.715G>C (p.Gly239Arg)	single nucleotide variant	Inborn genetic diseases [RCV003248948]	Chr13:20142574 [GRCh38] Chr13:20716713 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.246C>G (p.Ile82Met)	single nucleotide variant	Cataract 14 multiple types [RCV000821592]	Chr13:20143043 [GRCh38] Chr13:20717182 [GRCh37] Chr13:13q12.11	uncertain significance
NC_000013.10:g.(?_20716100)_(21398980_?)dup	duplication	Autosomal recessive nonsyndromic hearing loss 1A [RCV000813338]	Chr13:20141961..20824841 [GRCh38] Chr13:20716100..21398980 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20705241-21089219)x3	copy number gain	not provided [RCV000847389]	Chr13:20705241..21089219 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2340A>G	single nucleotide variant	Cataract 14 multiple types [RCV001114838]	Chr13:20139641 [GRCh38] Chr13:20713780 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2086G>T	single nucleotide variant	Cataract 14 multiple types [RCV001114841]	Chr13:20139895 [GRCh38] Chr13:20714034 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.130G>A (p.Val44Met)	single nucleotide variant	Cataract 14 multiple types [RCV000792076]	Chr13:20143159 [GRCh38] Chr13:20717298 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.522G>A (p.Glu174=)	single nucleotide variant	Cataract 14 multiple types [RCV001115051]	Chr13:20142767 [GRCh38] Chr13:20716906 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg)	single nucleotide variant	Cataract 14 multiple types [RCV000810510]	Chr13:20142072 [GRCh38] Chr13:20716211 [GRCh37] Chr13:13q12.11	uncertain significance
NC_000013.11:g.(?_20141961)_(20824841_?)del	deletion	Cataract 14 multiple types [RCV001031192]	Chr13:20716100..21398980 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1	copy number loss	not provided [RCV000847185]	Chr13:20562171..22993375 [GRCh37] Chr13:13q12.11	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV000849129]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436286-20886867)x3	copy number gain	not provided [RCV001006543]	Chr13:19436286..20886867 [GRCh37] Chr13:13q11-12.11	uncertain significance
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1	copy number loss	not provided [RCV001006544]	Chr13:19436286..24970361 [GRCh37] Chr13:13q11-12.12	pathogenic
GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1	copy number loss	not provided [RCV001006546]	Chr13:20668070..23029230 [GRCh37] Chr13:13q12.11	pathogenic
NM_021954.4(GJA3):c.*2695C>T	single nucleotide variant	Cataract 14 multiple types [RCV001113443]	Chr13:20139286 [GRCh38] Chr13:20713425 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1088C>T (p.Ala363Val)	single nucleotide variant	Inborn genetic diseases [RCV004030187]\|not provided [RCV000995029]	Chr13:20142201 [GRCh38] Chr13:20716340 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	copy number gain	not provided [RCV000847640]	Chr13:20069228..27474401 [GRCh37] Chr13:13q12.11-12.13	pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1	copy number loss	not provided [RCV000846015]	Chr13:19436286..23274540 [GRCh37] Chr13:13q11-12.11	pathogenic
NM_021954.4(GJA3):c.176C>A (p.Pro59Gln)	single nucleotide variant	not provided [RCV003312257]	Chr13:20143113 [GRCh38] Chr13:20717252 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.*1365G>A	single nucleotide variant	Cataract 14 multiple types [RCV001111536]	Chr13:20140616 [GRCh38] Chr13:20714755 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp)	single nucleotide variant	Cataract 14 multiple types [RCV001111633]	Chr13:20142153 [GRCh38] Chr13:20716292 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1089G>A (p.Ala363=)	single nucleotide variant	Cataract 14 multiple types [RCV001111634]	Chr13:20142200 [GRCh38] Chr13:20716339 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1016C>T (p.Ala339Val)	single nucleotide variant	not provided [RCV001092708]	Chr13:20142273 [GRCh38] Chr13:20716412 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.383A>T (p.Asp128Val)	single nucleotide variant	Cataract 14 multiple types [RCV001109412]	Chr13:20142906 [GRCh38] Chr13:20717045 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1086_1087insA (p.Ala363fs)	insertion	not provided [RCV000919890]	Chr13:20142202..20142203 [GRCh38] Chr13:20716341..20716342 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.-98G>A	single nucleotide variant	Cataract 14 multiple types [RCV001111734]	Chr13:20160970 [GRCh38] Chr13:20735109 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2107T>A	single nucleotide variant	Cataract 14 multiple types [RCV001114839]	Chr13:20139874 [GRCh38] Chr13:20714013 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2093A>C	single nucleotide variant	Cataract 14 multiple types [RCV001114840]	Chr13:20139888 [GRCh38] Chr13:20714027 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*740G>C	single nucleotide variant	Cataract 14 multiple types [RCV001113529]	Chr13:20141241 [GRCh38] Chr13:20715380 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp)	single nucleotide variant	Cataract 14 multiple types [RCV001065379]	Chr13:20142850 [GRCh38] Chr13:20716989 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	copy number gain	not provided [RCV002473574]	Chr13:19436287..22405375 [GRCh37] Chr13:13q11-12.11	uncertain significance
NM_021954.4(GJA3):c.*3210A>G	single nucleotide variant	Cataract 14 multiple types [RCV001111439]	Chr13:20138771 [GRCh38] Chr13:20712910 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2931A>G	single nucleotide variant	Cataract 14 multiple types [RCV001111440]	Chr13:20139050 [GRCh38] Chr13:20713189 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1535C>T	single nucleotide variant	Cataract 14 multiple types [RCV001111534]	Chr13:20140446 [GRCh38] Chr13:20714585 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1495G>C	single nucleotide variant	Cataract 14 multiple types [RCV001111535]	Chr13:20140486 [GRCh38] Chr13:20714625 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20722953-20855764)x3	copy number gain	not provided [RCV001006547]	Chr13:20722953..20855764 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1965C>T	single nucleotide variant	Cataract 14 multiple types [RCV001109199]	Chr13:20140016 [GRCh38] Chr13:20714155 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1931G>C	single nucleotide variant	Cataract 14 multiple types [RCV001109202]	Chr13:20140050 [GRCh38] Chr13:20714189 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala)	single nucleotide variant	Cataract 14 multiple types [RCV001111631]\|Inborn genetic diseases [RCV004978021]	Chr13:20142049 [GRCh38] Chr13:20716188 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn)	single nucleotide variant	Cataract 14 multiple types [RCV001111632]	Chr13:20142120 [GRCh38] Chr13:20716259 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg)	single nucleotide variant	Cataract 14 multiple types [RCV001109307]	Chr13:20142013 [GRCh38] Chr13:20716152 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu)	single nucleotide variant	Cataract 14 multiple types [RCV001109411]\|Inborn genetic diseases [RCV003259096]\|not provided [RCV001759878]	Chr13:20142894 [GRCh38] Chr13:20717033 [GRCh37] Chr13:13q12.11	benign\|uncertain significance
NM_021954.4(GJA3):c.*223T>G	single nucleotide variant	Cataract 14 multiple types [RCV001109305]	Chr13:20141758 [GRCh38] Chr13:20715897 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg)	single nucleotide variant	Cataract 14 multiple types [RCV001109308]	Chr13:20142033 [GRCh38] Chr13:20716172 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.-17-299G>A	single nucleotide variant	not provided [RCV001652406]	Chr13:20143604 [GRCh38] Chr13:20717743 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.1065C>G (p.Val355=)	single nucleotide variant	Cataract 14 multiple types [RCV001112097]	Chr13:20142224 [GRCh38] Chr13:20716363 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln)	single nucleotide variant	Cataract 14 multiple types [RCV001207762]	Chr13:20142510 [GRCh38] Chr13:20716649 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*2363A>G	single nucleotide variant	Cataract 14 multiple types [RCV001114837]	Chr13:20139618 [GRCh38] Chr13:20713757 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*3509C>G	single nucleotide variant	Cataract 14 multiple types [RCV001109104]	Chr13:20138472 [GRCh38] Chr13:20712611 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1957G>C	single nucleotide variant	Cataract 14 multiple types [RCV001109200]	Chr13:20140024 [GRCh38] Chr13:20714163 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.*1941C>G	single nucleotide variant	Cataract 14 multiple types [RCV001109201]	Chr13:20140040 [GRCh38] Chr13:20714179 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*1760G>A	single nucleotide variant	Cataract 14 multiple types [RCV001109203]	Chr13:20140221 [GRCh38] Chr13:20714360 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*201G>C	single nucleotide variant	Cataract 14 multiple types [RCV001109306]	Chr13:20141780 [GRCh38] Chr13:20715919 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)	single nucleotide variant	Cataract 14 multiple types [RCV001109413]	Chr13:20142955 [GRCh38] Chr13:20717094 [GRCh37] Chr13:13q12.11	benign\|conflicting interpretations of pathogenicity
NM_021954.4(GJA3):c.261G>A (p.Thr87=)	single nucleotide variant	Cataract 14 multiple types [RCV001109414]	Chr13:20143028 [GRCh38] Chr13:20717167 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.78G>A (p.Leu26=)	single nucleotide variant	Cataract 14 multiple types [RCV001109415]	Chr13:20143211 [GRCh38] Chr13:20717350 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.902C>T (p.Ala301Val)	single nucleotide variant	Cataract 14 multiple types [RCV001112098]	Chr13:20142387 [GRCh38] Chr13:20716526 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20485792-20715534)x3	copy number gain	not provided [RCV001260186]	Chr13:20485792..20715534 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)	copy number gain	Complete trisomy 13 syndrome [RCV002280659]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg)	single nucleotide variant	Cataract 14 multiple types [RCV001371283]	Chr13:20143245 [GRCh38] Chr13:20717384 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)	single nucleotide variant	Cataract 14 multiple types [RCV001542775]\|not provided [RCV001797193]	Chr13:20143105 [GRCh38] Chr13:20717244 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro)	single nucleotide variant	Cataract 14 multiple types [RCV001542776]	Chr13:20143141 [GRCh38] Chr13:20717280 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.1086C>A (p.Leu362=)	single nucleotide variant	Cataract 14 multiple types [RCV001513958]\|GJA3-related disorder [RCV004756261]\|not provided [RCV004707638]	Chr13:20142203 [GRCh38] Chr13:20716342 [GRCh37] Chr13:13q12.11	benign
NM_021954.4(GJA3):c.1079C>G (p.Pro360Arg)	single nucleotide variant	not provided [RCV001726894]	Chr13:20142210 [GRCh38] Chr13:20716349 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys)	single nucleotide variant	Cataract 14 multiple types [RCV004590363]\|Developmental cataract [RCV001775017]	Chr13:20143246 [GRCh38] Chr13:20717385 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1082_1088del (p.Pro361fs)	deletion	not provided [RCV001726893]	Chr13:20142201..20142207 [GRCh38] Chr13:20716340..20716346 [GRCh37] Chr13:13q12.11	likely pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	copy number gain	See cases [RCV001780076]	Chr13:1..115169878 [GRCh37] Chr13:13p13-q34	pathogenic
NM_021954.4(GJA3):c.161G>A (p.Cys54Tyr)	single nucleotide variant	not provided [RCV001765258]	Chr13:20143128 [GRCh38] Chr13:20717267 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1070G>A (p.Ser357Asn)	single nucleotide variant	not provided [RCV001757162]	Chr13:20142219 [GRCh38] Chr13:20716358 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.151G>C (p.Asp51His)	single nucleotide variant	Cataract 14 multiple types [RCV001971221]\|not provided [RCV003312032]	Chr13:20143138 [GRCh38] Chr13:20717277 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)	single nucleotide variant	Cataract 14 multiple types [RCV001837018]	Chr13:20142726 [GRCh38] Chr13:20716865 [GRCh37] Chr13:13q12.11	likely pathogenic\|uncertain significance
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys)	single nucleotide variant	Cataract 14 multiple types [RCV001988373]\|not provided [RCV003232506]	Chr13:20143063 [GRCh38] Chr13:20717202 [GRCh37] Chr13:13q12.11	likely pathogenic\|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726)	copy number gain	not specified [RCV002053035]	Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34	pathogenic
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu)	single nucleotide variant	Cataract 14 multiple types [RCV002006546]	Chr13:20142897 [GRCh38] Chr13:20717036 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)	copy number gain	not specified [RCV002053036]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	copy number gain	not provided [RCV001834436]	Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34	pathogenic
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys)	single nucleotide variant	Cataract 14 multiple types [RCV001883260]\|GJA3-related disorder [RCV004731191]	Chr13:20142694 [GRCh38] Chr13:20716833 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser)	single nucleotide variant	Cataract 14 multiple types [RCV002049782]	Chr13:20143111 [GRCh38] Chr13:20717250 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.655A>G (p.Met219Val)	single nucleotide variant	Cataract 14 multiple types [RCV001925926]\|not provided [RCV004693951]	Chr13:20142634 [GRCh38] Chr13:20716773 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu)	single nucleotide variant	Cataract 14 multiple types [RCV002071031]	Chr13:20143191 [GRCh38] Chr13:20717330 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser)	single nucleotide variant	Cataract 14 multiple types [RCV002227584]	Chr13:20142730 [GRCh38] Chr13:20716869 [GRCh37] Chr13:13q12.11	likely pathogenic\|conflicting interpretations of pathogenicity
NM_021954.4(GJA3):c.1101_1108del (p.Glu367fs)	deletion	Cataract 14 multiple types [RCV004796942]	Chr13:20142181..20142188 [GRCh38] Chr13:20716320..20716327 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	copy number gain	not provided [RCV002291540]	Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34	pathogenic
NM_021954.4(GJA3):c.-17-245_-17-235del	deletion	not provided [RCV002286106]	Chr13:20143540..20143550 [GRCh38] Chr13:20717679..20717689 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.-17-234_-17-233insAGGAA	insertion	not provided [RCV002285885]	Chr13:20143538..20143539 [GRCh38] Chr13:20717677..20717678 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)	single nucleotide variant	Cataract 14 multiple types [RCV002305352]	Chr13:20143153 [GRCh38] Chr13:20717292 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.196T>C (p.Tyr66His)	single nucleotide variant	Cataract 14 multiple types [RCV002947206]	Chr13:20143093 [GRCh38] Chr13:20717232 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)	single nucleotide variant	Cataract 14 multiple types [RCV003076454]	Chr13:20142241 [GRCh38] Chr13:20716380 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	copy number loss	not provided [RCV002475689]	Chr13:19436287..22089005 [GRCh37] Chr13:13q11-12.11	pathogenic
NM_021954.4(GJA3):c.1303A>G (p.Ile435Val)	single nucleotide variant	Inborn genetic diseases [RCV002905193]	Chr13:20141986 [GRCh38] Chr13:20716125 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1203G>A (p.Ala401=)	single nucleotide variant	Cataract 14 multiple types [RCV002882100]	Chr13:20142086 [GRCh38] Chr13:20716225 [GRCh37] Chr13:13q12.11	likely benign\|uncertain significance
NM_021954.4(GJA3):c.539G>A (p.Arg180His)	single nucleotide variant	Inborn genetic diseases [RCV002822527]	Chr13:20142750 [GRCh38] Chr13:20716889 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.565A>C (p.Thr189Pro)	single nucleotide variant	Inborn genetic diseases [RCV002799473]	Chr13:20142724 [GRCh38] Chr13:20716863 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)	single nucleotide variant	Cataract 14 multiple types [RCV002926920]	Chr13:20142616 [GRCh38] Chr13:20716755 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)	single nucleotide variant	Cataract 14 multiple types [RCV002958596]\|GJA3-related disorder [RCV003409988]\|Inborn genetic diseases [RCV004068065]	Chr13:20142384 [GRCh38] Chr13:20716523 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.487T>A (p.Phe163Ile)	single nucleotide variant	Inborn genetic diseases [RCV002767013]	Chr13:20142802 [GRCh38] Chr13:20716941 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.245T>A (p.Ile82Asn)	single nucleotide variant	Inborn genetic diseases [RCV002788669]	Chr13:20143044 [GRCh38] Chr13:20717183 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)	single nucleotide variant	Cataract 14 multiple types [RCV002893878]	Chr13:20142680 [GRCh38] Chr13:20716819 [GRCh37] Chr13:13q12.11	pathogenic
NM_021954.4(GJA3):c.919G>A (p.Gly307Arg)	single nucleotide variant	Inborn genetic diseases [RCV003219481]	Chr13:20142370 [GRCh38] Chr13:20716509 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1061C>T (p.Pro354Leu)	single nucleotide variant	Inborn genetic diseases [RCV003209926]	Chr13:20142228 [GRCh38] Chr13:20716367 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1202C>T (p.Ala401Val)	single nucleotide variant	Inborn genetic diseases [RCV003198229]	Chr13:20142087 [GRCh38] Chr13:20716226 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1207C>G (p.Gln403Glu)	single nucleotide variant	Inborn genetic diseases [RCV003205265]	Chr13:20142082 [GRCh38] Chr13:20716221 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.721G>A (p.Asp241Asn)	single nucleotide variant	Inborn genetic diseases [RCV003367663]	Chr13:20142568 [GRCh38] Chr13:20716707 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.848G>A (p.Arg283His)	single nucleotide variant	Inborn genetic diseases [RCV003367301]	Chr13:20142441 [GRCh38] Chr13:20716580 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1192G>A (p.Val398Met)	single nucleotide variant	Inborn genetic diseases [RCV003376179]	Chr13:20142097 [GRCh38] Chr13:20716236 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q12.11(chr13:20733790-20882001)x3	copy number gain	not provided [RCV003484888]	Chr13:20733790..20882001 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.864C>G (p.Pro288=)	single nucleotide variant	not provided [RCV003398326]	Chr13:20142425 [GRCh38] Chr13:20716564 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.20T>C (p.Leu7Pro)	single nucleotide variant	not provided [RCV003442449]	Chr13:20143269 [GRCh38] Chr13:20717408 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.868del (p.Ala290fs)	deletion	Cataract 14 multiple types [RCV003518333]	Chr13:20142421 [GRCh38] Chr13:20716560 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)	single nucleotide variant	Cataract 14 multiple types [RCV003518472]	Chr13:20142582 [GRCh38] Chr13:20716721 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)	single nucleotide variant	Cataract 14 multiple types [RCV003517910]	Chr13:20143100 [GRCh38] Chr13:20717239 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)	single nucleotide variant	Cataract 14 multiple types [RCV003517812]	Chr13:20142842 [GRCh38] Chr13:20716981 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)	single nucleotide variant	Cataract 14 multiple types [RCV003516807]	Chr13:20142671 [GRCh38] Chr13:20716810 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)	single nucleotide variant	Cataract 14 multiple types [RCV003631309]	Chr13:20143079 [GRCh38] Chr13:20717218 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)	single nucleotide variant	Cataract 14 multiple types [RCV003632457]	Chr13:20142523 [GRCh38] Chr13:20716662 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1107C>T (p.Gly369=)	single nucleotide variant	Cataract 14 multiple types [RCV003632847]	Chr13:20142182 [GRCh38] Chr13:20716321 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)	single nucleotide variant	Cataract 14 multiple types [RCV003518792]	Chr13:20143282 [GRCh38] Chr13:20717421 [GRCh37] Chr13:13q12.11	pathogenic\|likely pathogenic
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)	single nucleotide variant	Cataract 14 multiple types [RCV003811989]	Chr13:20142746 [GRCh38] Chr13:20716885 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)	microsatellite	Cataract 14 multiple types [RCV003631604]	Chr13:20143258..20143259 [GRCh38] Chr13:20717397..20717398 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.519C>T (p.Phe173=)	single nucleotide variant	Cataract 14 multiple types [RCV003815174]	Chr13:20142770 [GRCh38] Chr13:20716909 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.175C>G (p.Pro59Ala)	single nucleotide variant	Cataract 14 multiple types [RCV003990000]	Chr13:20143114 [GRCh38] Chr13:20717253 [GRCh37] Chr13:13q12.11	pathogenic
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	copy number gain	not provided [RCV004442747]	Chr13:19436287..36278224 [GRCh37] Chr13:13q11-13.3	uncertain significance
GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	copy number gain	not provided [RCV004442823]	Chr13:19748336..20797299 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.376C>G (p.Pro126Ala)	single nucleotide variant	GJA3-related disorder [RCV003936858]	Chr13:20142913 [GRCh38] Chr13:20717052 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.297C>G (p.Ile99Met)	single nucleotide variant	GJA3-related disorder [RCV003893942]	Chr13:20142992 [GRCh38] Chr13:20717131 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.*5C>T	single nucleotide variant	GJA3-related disorder [RCV003949269]	Chr13:20141976 [GRCh38] Chr13:20716115 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.323_326del (p.Glu108fs)	microsatellite	GJA3-related disorder [RCV003954918]	Chr13:20142963..20142966 [GRCh38] Chr13:20717102..20717105 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.463T>G (p.Phe155Val)	single nucleotide variant	Inborn genetic diseases [RCV004390772]	Chr13:20142826 [GRCh38] Chr13:20716965 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.68A>G (p.Lys23Arg)	single nucleotide variant	Inborn genetic diseases [RCV004390773]	Chr13:20143221 [GRCh38] Chr13:20717360 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1063G>T (p.Val355Phe)	single nucleotide variant	Inborn genetic diseases [RCV004390769]	Chr13:20142226 [GRCh38] Chr13:20716365 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1079C>A (p.Pro360Gln)	single nucleotide variant	Cataract 14 multiple types [RCV005065032]\|Inborn genetic diseases [RCV004390770]	Chr13:20142210 [GRCh38] Chr13:20716349 [GRCh37] Chr13:13q12.11	likely benign\|uncertain significance
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)	single nucleotide variant	Cataract 14 multiple types [RCV004593607]	Chr13:20143164 [GRCh38] Chr13:20717303 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)	single nucleotide variant	Cataract 14 multiple types [RCV004593610]	Chr13:20143147 [GRCh38] Chr13:20717286 [GRCh37] Chr13:13q12.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_021954.4(GJA3):c.199G>C (p.Asp67His)	single nucleotide variant	Cataract 14 multiple types [RCV004593613]	Chr13:20143090 [GRCh38] Chr13:20717229 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.32T>C (p.Leu11Ser)	single nucleotide variant	Cataract 14 multiple types [RCV004593625]	Chr13:20143257 [GRCh38] Chr13:20717396 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs)	deletion	Cataract 14 multiple types [RCV004593627]	Chr13:20142124..20142146 [GRCh38] Chr13:20716263..20716285 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.1197dup (p.Thr400fs)	duplication	Cataract 14 multiple types [RCV004593630]	Chr13:20142091..20142092 [GRCh38] Chr13:20716230..20716231 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.82G>T (p.Val28Leu)	single nucleotide variant	Cataract 14 multiple types [RCV004593647]	Chr13:20143207 [GRCh38] Chr13:20717346 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.253G>A (p.Val85Met)	single nucleotide variant	Inborn genetic diseases [RCV004390771]	Chr13:20143036 [GRCh38] Chr13:20717175 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.134G>C (p.Trp45Ser)	single nucleotide variant	Cataract 14 multiple types [RCV004593608]	Chr13:20143155 [GRCh38] Chr13:20717294 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)	single nucleotide variant	Cataract 14 multiple types [RCV004593622]	Chr13:20142693 [GRCh38] Chr13:20716832 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.64G>A (p.Gly22Ser)	single nucleotide variant	Cataract 14 multiple types [RCV004593641]	Chr13:20143225 [GRCh38] Chr13:20717364 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)	single nucleotide variant	Cataract 14 multiple types [RCV004593593]	Chr13:20143197 [GRCh38] Chr13:20717336 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.139G>A (p.Asp47Asn)	single nucleotide variant	Cataract 14 multiple types [RCV004593609]	Chr13:20143150 [GRCh38] Chr13:20717289 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)	single nucleotide variant	Cataract 14 multiple types [RCV004593614]	Chr13:20143089 [GRCh38] Chr13:20717228 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)	single nucleotide variant	Cataract 14 multiple types [RCV004593615]	Chr13:20143063 [GRCh38] Chr13:20717202 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)	single nucleotide variant	Cataract 14 multiple types [RCV004593617]	Chr13:20142999 [GRCh38] Chr13:20717138 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)	single nucleotide variant	Cataract 14 multiple types [RCV004593618]	Chr13:20142861 [GRCh38] Chr13:20717000 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.950dup (p.His318fs)	duplication	Cataract 14 multiple types [RCV004593626]	Chr13:20142338..20142339 [GRCh38] Chr13:20716477..20716478 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.1A>G (p.Met1Val)	single nucleotide variant	Cataract 14 multiple types [RCV004593583]	Chr13:20143288 [GRCh38] Chr13:20717427 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.96C>A (p.Phe32Leu)	single nucleotide variant	Cataract 14 multiple types [RCV004593597]	Chr13:20143193 [GRCh38] Chr13:20717332 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)	single nucleotide variant	Cataract 14 multiple types [RCV004593619]	Chr13:20142711 [GRCh38] Chr13:20716850 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1189dup (p.Ala397fs)	duplication	Cataract 14 multiple types [RCV004593629]	Chr13:20142099..20142100 [GRCh38] Chr13:20716238..20716239 [GRCh37] Chr13:13q12.11	uncertain significance
NC_000013.10:g.(?_20472281)_(24052335_?)del	deletion	not provided [RCV004578334]	Chr13:20472281..24052335 [GRCh37] Chr13:13q12.11-12.12	pathogenic
NM_021954.4(GJA3):c.143A>G (p.Glu48Gly)	single nucleotide variant	Cataract 14 multiple types [RCV004593611]	Chr13:20143146 [GRCh38] Chr13:20717285 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)	single nucleotide variant	Cataract 14 multiple types [RCV004593612]	Chr13:20143126 [GRCh38] Chr13:20717265 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)	single nucleotide variant	Cataract 14 multiple types [RCV004593616]	Chr13:20143021 [GRCh38] Chr13:20717160 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)	single nucleotide variant	Cataract 14 multiple types [RCV004593621]	Chr13:20142700 [GRCh38] Chr13:20716839 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.771dup (p.Ser258fs)	duplication	Cataract 14 multiple types [RCV004593623]	Chr13:20142517..20142518 [GRCh38] Chr13:20716656..20716657 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.584C>T (p.Ser195Phe)	single nucleotide variant	Cataract 14 multiple types [RCV004593620]	Chr13:20142705 [GRCh38] Chr13:20716844 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)	duplication	Cataract 14 multiple types [RCV004593624]	Chr13:20142471..20142472 [GRCh38] Chr13:20716610..20716611 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1152dup (p.Ser385fs)	duplication	Cataract 14 multiple types [RCV004593628]	Chr13:20142136..20142137 [GRCh38] Chr13:20716275..20716276 [GRCh37] Chr13:13q12.11	likely pathogenic
NC_000013.10:g.(?_20716120)_(21219117_?)dup	duplication	not provided [RCV004578350]	Chr13:20716120..21219117 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.715G>A (p.Gly239Ser)	single nucleotide variant	Inborn genetic diseases [RCV004627113]	Chr13:20142574 [GRCh38] Chr13:20716713 [GRCh37] Chr13:13q12.11	likely benign
NM_021954.4(GJA3):c.406C>T (p.Arg136Cys)	single nucleotide variant	Inborn genetic diseases [RCV004627114]	Chr13:20142883 [GRCh38] Chr13:20717022 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.742G>T (p.Gly248Trp)	single nucleotide variant	Inborn genetic diseases [RCV004627115]	Chr13:20142547 [GRCh38] Chr13:20716686 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.635G>A (p.Cys212Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004627116]	Chr13:20142654 [GRCh38] Chr13:20716793 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1304T>C (p.Ile435Thr)	single nucleotide variant	Inborn genetic diseases [RCV004627112]	Chr13:20141985 [GRCh38] Chr13:20716124 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1006C>T (p.Gln336Ter)	single nucleotide variant	not provided [RCV004763146]		uncertain significance
NM_021954.4(GJA3):c.562A>T (p.Asn188Tyr)	single nucleotide variant	GJA3-related disorder [RCV004756620]	Chr13:20142727 [GRCh38] Chr13:20716866 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.65G>T (p.Gly22Val)	single nucleotide variant	GJA3-related disorder [RCV004732366]	Chr13:20143224 [GRCh38] Chr13:20717363 [GRCh37] Chr13:13q12.11	uncertain significance
GRCh37/hg19 13q11-31.3(chr13:19436287-92292639)x3	copy number gain	not provided [RCV004819310]	Chr13:19436287..92292639 [GRCh37] Chr13:13q11-31.3	pathogenic
NM_021954.4(GJA3):c.565A>G (p.Thr189Ala)	single nucleotide variant	Inborn genetic diseases [RCV004982532]	Chr13:20142724 [GRCh38] Chr13:20716863 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.308A>C (p.Glu103Ala)	single nucleotide variant	Inborn genetic diseases [RCV004982535]	Chr13:20142981 [GRCh38] Chr13:20717120 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.625G>A (p.Ala209Thr)	single nucleotide variant	Inborn genetic diseases [RCV004982536]	Chr13:20142664 [GRCh38] Chr13:20716803 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1283C>T (p.Ala428Val)	single nucleotide variant	Inborn genetic diseases [RCV004982533]	Chr13:20142006 [GRCh38] Chr13:20716145 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.761C>T (p.Pro254Leu)	single nucleotide variant	Inborn genetic diseases [RCV004982534]	Chr13:20142528 [GRCh38] Chr13:20716667 [GRCh37] Chr13:13q12.11	likely benign
GRCh37/hg19 13q11-12.11(chr13:19436287-21274807)x3	copy number gain	not provided [RCV004819583]	Chr13:19436287..21274807 [GRCh37] Chr13:13q11-12.11	uncertain significance
NM_021954.4(GJA3):c.113G>A (p.Gly38Glu)	single nucleotide variant	Cataract 14 multiple types [RCV005002036]	Chr13:20143176 [GRCh38] Chr13:20717315 [GRCh37] Chr13:13q12.11	likely pathogenic
NM_021954.4(GJA3):c.454A>C (p.Asn152His)	single nucleotide variant	Cataract 14 multiple types [RCV005085406]	Chr13:20142835 [GRCh38] Chr13:20716974 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.9C>A (p.Asp3Glu)	single nucleotide variant	Cataract 14 multiple types [RCV005105811]	Chr13:20143280 [GRCh38] Chr13:20717419 [GRCh37] Chr13:13q12.11	uncertain significance
NM_021954.4(GJA3):c.1023G>A (p.Lys341=)	single nucleotide variant	Cataract 14 multiple types [RCV005144257]	Chr13:20142266 [GRCh38] Chr13:20716405 [GRCh37] Chr13:13q12.11	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	1340
Count of miRNA genes:	830
Interacting mature miRNAs:	947
Transcripts:	ENST00000241125
Prediction methods:	Miranda, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597065793	GWAS1161867_H	facial emotion recognition measurement QTL GWAS1161867 (human)		0.000003	facial emotion recognition measurement		13	20150433	20150434	Human
597333733	GWAS1429807_H	S-6-hydroxywarfarin measurement QTL GWAS1429807 (human)		0.0000003	S-6-hydroxywarfarin measurement		13	20153489	20153490	Human

D13S141

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	20,724,459 - 20,724,584	UniSTS	GRCh37
Build 36	13	19,622,459 - 19,622,584	RGD	NCBI36
Celera	13	1,786,266 - 1,786,391	RGD
Cytogenetic Map	13	q12.11	UniSTS
HuRef	13	1,529,906 - 1,530,029	UniSTS

UniSTS:480636

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	20,716,120 - 20,717,427	UniSTS	GRCh37
Celera	13	1,777,929 - 1,779,236	UniSTS
HuRef	13	1,521,569 - 1,522,876	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
919	1791	2208	2136	4036	1245	1842	4	385	1471	253	1986	5585	5349	44	2864	710	1604	1347	148	1


RefSeq Transcripts	NG_016399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011535048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054374462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF075290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC121137	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF726530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR003755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT966396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT966397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT966398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT966399	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KX119953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KX119954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KX545271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KX545272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	LC730524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000241125 ⟹ ENSP00000241125

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	13	20,138,255 - 20,161,052 (-)	Ensembl

RefSeq Acc Id:

NM_021954 ⟹ NP_068773

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	20,138,255 - 20,161,052 (-)	NCBI
GRCh37	13	20,712,394 - 20,735,524 (-)	NCBI
Build 36	13	19,610,394 - 19,633,183 (-)	NCBI Archive
HuRef	13	1,517,843 - 1,540,632 (-)	ENTREZGENE
CHM1_1	13	20,680,889 - 20,703,688 (-)	NCBI
T2T-CHM13v2.0	13	19,334,689 - 19,357,484 (-)	NCBI

Sequence:

show sequence

GCACACTGGGGCTGCAGGGATGGCGATCAGGGCGGGGAGGTCGGGCCCTGGCGCGGGGCGCACGCGTGAAGCAGCACCGCACGTGTGAAAGGAATTCTTTTCAGAGCGGCCGGGAGCCCTGCTCCGGA
GGAACGCACCCGGGTCGCCGCCGCGGCAGAGCGGGGTTAGGAATCTGAAGCAATGGGCGACTGGAGCTTTCTGGGAAGACTCTTAGAAAATGCACAGGAGCACTCCACGGTCATCGGCAAGGTTTGGC
TGACCGTGCTGTTCATCTTCCGCATCTTGGTGCTGGGGGCCGCGGCGGAGGACGTGTGGGGCGATGAGCAGTCAGACTTCACCTGCAACACCCAGCAGCCGGGCTGCGAGAACGTCTGCTACGACAGG
GCCTTCCCCATCTCCCACATCCGCTTCTGGGCGCTGCAGATCATCTTCGTGTCCACGCCCACCCTCATCTACCTGGGCCACGTGCTGCACATCGTGCGCATGGAAGAGAAGAAGAAAGAGAGGGAGGA
GGAGGAGCAGCTGAAGAGAGAGAGCCCCAGCCCCAAGGAGCCACCGCAGGACAATCCCTCGTCGCGGGACGACCGCGGCAGGGTGCGCATGGCCGGGGCGCTGCTGCGGACCTACGTCTTCAACATCA
TCTTCAAGACGCTGTTCGAGGTGGGCTTCATCGCCGGCCAGTACTTTCTGTACGGCTTCGAGCTGAAGCCGCTCTACCGCTGCGACCGCTGGCCCTGCCCCAACACGGTGGACTGCTTCATCTCCAGG
CCCACGGAGAAGACCATCTTCATCATCTTCATGCTGGCGGTGGCCTGCGCGTCCCTGCTGCTCAACATGCTGGAGATCTACCACCTGGGCTGGAAGAAGCTCAAGCAGGGCGTGACCAGCCGCCTCGG
CCCGGACGCCTCCGAGGCCCCGCTGGGGACAGCCGATCCCCCGCCCCTGCCCCCCAGCTCCCGGCCGCCCGCCGTTGCCATCGGGTTCCCACCCTACTATGCGCACACCGCTGCGCCCCTGGGACAGG
CCCGCGCCGTGGGCTACCCCGGGGCCCCGCCACCAGCCGCGGACTTCAAACTGCTAGCCCTGACCGAGGCGCGCGGAAAGGGCCAGTCCGCCAAGCTCTACAACGGCCACCACCACCTGCTGATGACT
GAGCAGAACTGGGCCAACCAGGCGGCCGAGCGGCAGCCCCCGGCGCTCAAGGCTTACCCGGCAGCGTCCACGCCTGCAGCCCCCAGCCCCGTCGGCAGCAGCTCCCCGCCACTCGCGCACGAGGCTGA
GGCGGGCGCGGCGCCCCTGCTGCTGGATGGGAGCGGCAGCAGTCTGGAGGGGAGCGCCCTGGCAGGGACCCCCGAGGAGGAGGAGCAGGCCGTGACCACCGCGGCCCAGATGCACCAGCCGCCCTTGC
CCCTCGGAGACCCAGGTCGGGCCAGCAAGGCCAGCAGGGCCAGCAGCGGGCGGGCCAGACCGGAGGACTTGGCCATCTAGTGCCCGGGTGCCTGCCTCCAGACAGCTGTGTAGTGATCTTTTTCTTAG
AAACCAAAACCAAAGTGCACTTCCCACCAGCAGATAGAACCTGAAAGTCCCAGGAGGTGGGAGCGACTGGAGTCCCAGGAGGTGGACGATGGAGGAGAGATCAGGTTTCCGTGTTCAATGCTTGCTGT
TCTTAGCACTGTGAGTTACAGTGGGGATAACTCCCACTTTCTGAGTTTGGGGGTGGCGGGGACAAGGGTTGTGGGCCTTTAAGATCTTCACAGCAGCCCAGAAATCTGGTCGCTGAGGGCTGTCTCTG
GGGGTAACTGTTCTGTAGTGGTAAAGCAACAGGTATCCTGCAGTCCCTTTAGCTCCTGGGCAATTGGGTTTGCTATTCCTAAGCTCTCCAGAGCCTCTGGGCGGCCCAGAGGGTCTTAGCTCTGGGCC
AGAGCACTTAGCTCTATCTCTTTGATACTTTTAACTTAGAGTTGAATTTCATTTGGGATATTTGCCAAACTGCACTAAAAAAAGATTTACAGCAAGTCTATGTAGTGTCATTTGAGTTTCCGAAATTG
CATGTGAAGCCCAGGATATCAAGCTTCAGGCCTCATGACAAGTGACAAAGAGCAGTTGCCCTCCAGAGGCAGGCTCAGTGGGCAAGGGCCCCAGAGGTTGCTGGCAGAAGGCAGGTGGAAACGCAGCC
ACGCCTGAGGCCATTTTTAAACAGTTGAGGAAATTGACATAAAAGTGTGTCGGGTATGCCGTAGGTATTTATTTTCTAAATGATTATTTTGTGCTTTGAATGGTGCAGCTATGCCTATTTTCTCCCAC
TTTCTTTCAGGAAAAATGAAAGAAAAATAGTGTTTTTCTTTCTTTAAATACTGTTAGAATGATTGCTGACCAAGACAGTGCTAATTTGCCCTAATGCATGCTACTAGCATCTTTACTAAAGATTTTGA
ACTTTCTTGTAAAAGAAATTCTTTAATTTCATGAGTCACCTAATTATAATGAGAATGTATTATATAAAACAAAAGCAGGGGAAAGTTTTAAGTGCATTCAAATAGAAGTTCTGAAGATTTTGAATGGG
AAGTGAAAAGTGAACTACTGTTGCCAGGAAAATTATTTATACAGATGAATCTATGACAATCTACACTTTTAAAAAGTACAGAATAAAACACTTCAAGCTTCCTAATCATTCTTTGTGGGCAGCCTGTT
TGCTTTCTCCAGTGTAAATAATATAAGTGTCTGGGGATCCCTGCCTGGGGGAGGGCGCGTGCTCATGCAGGCTGTATGCCCCATTCTGCCTCCACACCAGAGCTGTCCTGACAGGGAAGGCTATTTAT
GTGTGTGGGCATGGCTGGAAGACGGCAGAATTTTCTGTCCTGCACACACAGCTGTAGTATCTTGGTCACCATTTGTTTATAAAATGAACGATGGTCATGTTGAGCCTGTTTCTACTCACACTTTTCAC
CTCCAACTTCTACTGAGTATCATTAGCCCTTGTTCAGCGAGACCAATGTAATACATTTCTTTTTATAAATTAACTTCTCGATGATGCATTTGGGACCACACTCCAAACATACTTTCTGTTTTCTATCA
TAAAGGGTGCTCCACTAACAATCTGATGAAAGGAATGCAATTTCCAAGTCTCAGATTCTTGCATGCAACTAGTTTTTCATGTCAGTCAAACACAAAGAATTTGTTAGTACATTCTGCTTGCTGTAGGA
TGCACTGGACAGGCTCCTAGGCTTGAAAAATGCTAACTTTTCCATACGTCTCCTCAGAGACTTTCTCAACCAGATTGACAAGAGAGAAATTAGCCCTTTGGAAAACTGTGAGTGACTTTCTCACTCCT
CTCCAGGCTGGTGCATAACTACAGCCATTCTAGATGCATAACTTCTCTCCGAAGTTCACTCATTACATGCAGTGTATGCCATAGGCCTAGGGCAGCAGGACTTAGTTCTTGTGAGTGATAAGGGCTGC
TAGAAGATCCTAGTGTGAGAAGCATTCCGATAAAAAGCTTTGGCCATTTTAGAAAATGCAATAGCAATCATCCAAGAGCACAAGTACAGCTCAAGTACAAGTGGATGTCAATACTTGGTTCTTTAAGT
TCTACCATAATAAATGTTCATAACAGTAACAAGCTTCTTATTTACCCACAATTTGATTTTGAGTGGGGTTGGAGATGAGCATGAGAACTCAAATTGTATCTAGTTTTTACATTTTAAAATTGAATTTA
GTCACAATATGTTTATGGAAATGCCAGTATTGTACCATTGACCATAGTCTAGTGGGTCCATTTAGAGTGGATAGGAGTGTAGAATTAGATTCACCTACTTGAAAATCACTAATCTATAAAGAAGTGAG
GTTTTGCAATAGAACAGTGCCTGTGGTGTTTTTTCAGGTTAGCATACTGATTTCAGTTCATGTAAGAAATGAACGCATGTTTCACATCCTTTTGCTCTTTGAGGTATCCATGATTCTAAAGGCTGGGT
CCTTCTCTCTCAGGCAGTGTGGAATTGTTCTCTACTCAACTAGTCCTTTAAGACATTGAAACATGCAATAAAAATAGAAATTGCCTCTCTCTGTGGGCAAGATTCCAGACCTATTTTTTTCTAGCCTG
GAAATTTCACTGAAACTATTTTGTTCTTGATTCATTAGAAAGTTTTAAAAAATCTCTAAGCCTATTTTAAAACTCAAATGCTATACCTATAGCATTTGAGTATTATATTTACATACATGGTTTTTAAG
CTGCTGTATACAATTACTTCTTATATCCCTGTTTTTATAAAATGTTAAACATCACTATAGTTACAGTACCAAAAATCATTTTTTAAATTCTAAAACTATTACTTATATTATCACTCACTTTCTCCTTT
TTAAACTTTTAATGGTTATTCTTGTATTTTTTAATAAAATTGACACGAATAAATCCTTAAATTTACAAAAGAAAAATAGCAAGCCAGCATCTTTCTCATTTATCCTGGATTTCTTCGGCTCTGGACAA
GTAAGTGGATAGGTCATAGAATTCCTACACAAGAATACCTGGACTAATAACTATGAATATAATTTAAACATCACTTTACAAAAAATTAATCCAATAGGGTTTAGGTCTCCTTTCACGTTAGGCTTTTT
AAAAAGTATTATTAACACTTTCTTTATTTTGTATTACTGAATAAACTCCTTTTTTCTGAATTTTTTGAACTTCTGATATTTGTAACACTAATTCATGAATCTCCACCAAAATAAATACTTATAGAGAG
TATTGCATGATTTAAGAGAGTAAATGTGTTTTCCAAAGATGAATAGAGTCCTGCCACCATCACCACCCGCCACCCCTACAAATTGAGGATATCCTAAATAACCTTTAATATAGCATATGGACATTGTA
CATTTAAGGTCAGGGAAGGCACTTTTCTTCCTAATTTTATATTACAGTGCAAATCTTGGGTTGACTCACTTTAAGGTTTCTGACTGCCCAAAATATTTTTTCCCCTTTACGTTACAGAACATTATAAT
AAGGCAAACAAGTTAGGGATTTGAATAACACTCAAAGCAACAAACTGTTTCCAGAAAGTACCATATTTGAAGCTGTTTGGTGTGTAAATGTTCATTTAGCTCATGTATTTACAAAACTCTTACTAAAA
CTTAATTTTTGTGCCATAACAGTGTCTTTCCTGGATTACATTGTAACTGGAAGTAAGCATTTTCTAAAATAATAAAAGTGCCCTTAAGTTTAAA

hide sequence

RefSeq Acc Id:

XM_011535048 ⟹ XP_011533350

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	20,138,255 - 20,161,565 (-)	NCBI

Sequence:

show sequence

GCCCCGGAGTGCGTAGGCGGCAGGGAAGAGCCCCCGCGTCCACATCCCCAGGGCCCGCGCAGGTTAGGAATCTGAAGCAATGGGCGACTGGAGCTTTCTGGGAAGACTCTTAGAAAATGCACAGGAGC
ACTCCACGGTCATCGGCAAGGTTTGGCTGACCGTGCTGTTCATCTTCCGCATCTTGGTGCTGGGGGCCGCGGCGGAGGACGTGTGGGGCGATGAGCAGTCAGACTTCACCTGCAACACCCAGCAGCCG
GGCTGCGAGAACGTCTGCTACGACAGGGCCTTCCCCATCTCCCACATCCGCTTCTGGGCGCTGCAGATCATCTTCGTGTCCACGCCCACCCTCATCTACCTGGGCCACGTGCTGCACATCGTGCGCAT
GGAAGAGAAGAAGAAAGAGAGGGAGGAGGAGGAGCAGCTGAAGAGAGAGAGCCCCAGCCCCAAGGAGCCACCGCAGGACAATCCCTCGTCGCGGGACGACCGCGGCAGGGTGCGCATGGCCGGGGCGC
TGCTGCGGACCTACGTCTTCAACATCATCTTCAAGACGCTGTTCGAGGTGGGCTTCATCGCCGGCCAGTACTTTCTGTACGGCTTCGAGCTGAAGCCGCTCTACCGCTGCGACCGCTGGCCCTGCCCC
AACACGGTGGACTGCTTCATCTCCAGGCCCACGGAGAAGACCATCTTCATCATCTTCATGCTGGCGGTGGCCTGCGCGTCCCTGCTGCTCAACATGCTGGAGATCTACCACCTGGGCTGGAAGAAGCT
CAAGCAGGGCGTGACCAGCCGCCTCGGCCCGGACGCCTCCGAGGCCCCGCTGGGGACAGCCGATCCCCCGCCCCTGCCCCCCAGCTCCCGGCCGCCCGCCGTTGCCATCGGGTTCCCACCCTACTATG
CGCACACCGCTGCGCCCCTGGGACAGGCCCGCGCCGTGGGCTACCCCGGGGCCCCGCCACCAGCCGCGGACTTCAAACTGCTAGCCCTGACCGAGGCGCGCGGAAAGGGCCAGTCCGCCAAGCTCTAC
AACGGCCACCACCACCTGCTGATGACTGAGCAGAACTGGGCCAACCAGGCGGCCGAGCGGCAGCCCCCGGCGCTCAAGGCTTACCCGGCAGCGTCCACGCCTGCAGCCCCCAGCCCCGTCGGCAGCAG
CTCCCCGCCACTCGCGCACGAGGCTGAGGCGGGCGCGGCGCCCCTGCTGCTGGATGGGAGCGGCAGCAGTCTGGAGGGGAGCGCCCTGGCAGGGACCCCCGAGGAGGAGGAGCAGGCCGTGACCACCG
CGGCCCAGATGCACCAGCCGCCCTTGCCCCTCGGAGACCCAGGTCGGGCCAGCAAGGCCAGCAGGGCCAGCAGCGGGCGGGCCAGACCGGAGGACTTGGCCATCTAGTGCCCGGGTGCCTGCCTCCAG
ACAGCTGTGTAGTGATCTTTTTCTTAGAAACCAAAACCAAAGTGCACTTCCCACCAGCAGATAGAACCTGAAAGTCCCAGGAGGTGGGAGCGACTGGAGTCCCAGGAGGTGGACGATGGAGGAGAGAT
CAGGTTTCCGTGTTCAATGCTTGCTGTTCTTAGCACTGTGAGTTACAGTGGGGATAACTCCCACTTTCTGAGTTTGGGGGTGGCGGGGACAAGGGTTGTGGGCCTTTAAGATCTTCACAGCAGCCCAG
AAATCTGGTCGCTGAGGGCTGTCTCTGGGGGTAACTGTTCTGTAGTGGTAAAGCAACAGGTATCCTGCAGTCCCTTTAGCTCCTGGGCAATTGGGTTTGCTATTCCTAAGCTCTCCAGAGCCTCTGGG
CGGCCCAGAGGGTCTTAGCTCTGGGCCAGAGCACTTAGCTCTATCTCTTTGATACTTTTAACTTAGAGTTGAATTTCATTTGGGATATTTGCCAAACTGCACTAAAAAAAGATTTACAGCAAGTCTAT
GTAGTGTCATTTGAGTTTCCGAAATTGCATGTGAAGCCCAGGATATCAAGCTTCAGGCCTCATGACAAGTGACAAAGAGCAGTTGCCCTCCAGAGGCAGGCTCAGTGGGCAAGGGCCCCAGAGGTTGC
TGGCAGAAGGCAGGTGGAAACGCAGCCACGCCTGAGGCCATTTTTAAACAGTTGAGGAAATTGACATAAAAGTGTGTCGGGTATGCCGTAGGTATTTATTTTCTAAATGATTATTTTGTGCTTTGAAT
GGTGCAGCTATGCCTATTTTCTCCCACTTTCTTTCAGGAAAAATGAAAGAAAAATAGTGTTTTTCTTTCTTTAAATACTGTTAGAATGATTGCTGACCAAGACAGTGCTAATTTGCCCTAATGCATGC
TACTAGCATCTTTACTAAAGATTTTGAACTTTCTTGTAAAAGAAATTCTTTAATTTCATGAGTCACCTAATTATAATGAGAATGTATTATATAAAACAAAAGCAGGGGAAAGTTTTAAGTGCATTCAA
ATAGAAGTTCTGAAGATTTTGAATGGGAAGTGAAAAGTGAACTACTGTTGCCAGGAAAATTATTTATACAGATGAATCTATGACAATCTACACTTTTAAAAAGTACAGAATAAAACACTTCAAGCTTC
CTAATCATTCTTTGTGGGCAGCCTGTTTGCTTTCTCCAGTGTAAATAATATAAGTGTCTGGGGATCCCTGCCTGGGGGAGGGCGCGTGCTCATGCAGGCTGTATGCCCCATTCTGCCTCCACACCAGA
GCTGTCCTGACAGGGAAGGCTATTTATGTGTGTGGGCATGGCTGGAAGACGGCAGAATTTTCTGTCCTGCACACACAGCTGTAGTATCTTGGTCACCATTTGTTTATAAAATGAACGATGGTCATGTT
GAGCCTGTTTCTACTCACACTTTTCACCTCCAACTTCTACTGAGTATCATTAGCCCTTGTTCAGCGAGACCAATGTAATACATTTCTTTTTATAAATTAACTTCTCGATGATGCATTTGGGACCACAC
TCCAAACATACTTTCTGTTTTCTATCATAAAGGGTGCTCCACTAACAATCTGATGAAAGGAATGCAATTTCCAAGTCTCAGATTCTTGCATGCAACTAGTTTTTCATGTCAGTCAAACACAAAGAATT
TGTTAGTACATTCTGCTTGCTGTAGGATGCACTGGACAGGCTCCTAGGCTTGAAAAATGCTAACTTTTCCATACGTCTCCTCAGAGACTTTCTCAACCAGATTGACAAGAGAGAAATTAGCCCTTTGG
AAAACTGTGAGTGACTTTCTCACTCCTCTCCAGGCTGGTGCATAACTACAGCCATTCTAGATGCATAACTTCTCTCCGAAGTTCACTCATTACATGCAGTGTATGCCATAGGCCTAGGGCAGCAGGAC
TTAGTTCTTGTGAGTGATAAGGGCTGCTAGAAGATCCTAGTGTGAGAAGCATTCCGATAAAAAGCTTTGGCCATTTTAGAAAATGCAATAGCAATCATCCAAGAGCACAAGTACAGCTCAAGTACAAG
TGGATGTCAATACTTGGTTCTTTAAGTTCTACCATAATAAATGTTCATAACAGTAACAAGCTTCTTATTTACCCACAATTTGATTTTGAGTGGGGTTGGAGATGAGCATGAGAACTCAAATTGTATCT
AGTTTTTACATTTTAAAATTGAATTTAGTCACAATATGTTTATGGAAATGCCAGTATTGTACCATTGACCATAGTCTAGTGGGTCCATTTAGAGTGGATAGGAGTGTAGAATTAGATTCACCTACTTG
AAAATCACTAATCTATAAAGAAGTGAGGTTTTGCAATAGAACAGTGCCTGTGGTGTTTTTTCAGGTTAGCATACTGATTTCAGTTCATGTAAGAAATGAACGCATGTTTCACATCCTTTTGCTCTTTG
AGGTATCCATGATTCTAAAGGCTGGGTCCTTCTCTCTCAGGCAGTGTGGAATTGTTCTCTACTCAACTAGTCCTTTAAGACATTGAAACATGCAATAAAAATAGAAATTGCCTCTCTCTGTGGGCAAG
ATTCCAGACCTATTTTTTTCTAGCCTGGAAATTTCACTGAAACTATTTTGTTCTTGATTCATTAGAAAGTTTTAAAAAATCTCTAAGCCTATTTTAAAACTCAAATGCTATACCTATAGCATTTGAGT
ATTATATTTACATACATGGTTTTTAAGCTGCTGTATACAATTACTTCTTATATCCCTGTTTTTATAAAATGTTAAACATCACTATAGTTACAGTACCAAAAATCATTTTTTAAATTCTAAAACTATTA
CTTATATTATCACTCACTTTCTCCTTTTTAAACTTTTAATGGTTATTCTTGTATTTTTTAATAAAATTGACACGAATAAATCCTTAAATTTACAAAAGAAAAATAGCAAGCCAGCATCTTTCTCATTT
ATCCTGGATTTCTTCGGCTCTGGACAAGTAAGTGGATAGGTCATAGAATTCCTACACAAGAATACCTGGACTAATAACTATGAATATAATTTAAACATCACTTTACAAAAAATTAATCCAATAGGGTT
TAGGTCTCCTTTCACGTTAGGCTTTTTAAAAAGTATTATTAACACTTTCTTTATTTTGTATTACTGAATAAACTCCTTTTTTCTGAATTTTTTGAACTTCTGATATTTGTAACACTAATTCATGAATC
TCCACCAAAATAAATACTTATAGAGAGTATTGCATGATTTAAGAGAGTAAATGTGTTTTCCAAAGATGAATAGAGTCCTGCCACCATCACCACCCGCCACCCCTACAAATTGAGGATATCCTAAATAA
CCTTTAATATAGCATATGGACATTGTACATTTAAGGTCAGGGAAGGCACTTTTCTTCCTAATTTTATATTACAGTGCAAATCTTGGGTTGACTCACTTTAAGGTTTCTGACTGCCCAAAATATTTTTT
CCCCTTTACGTTACAGAACATTATAATAAGGCAAACAAGTTAGGGATTTGAATAACACTCAAAGCAACAAACTGTTTCCAGAAAGTACCATATTTGAAGCTGTTTGGTGTGTAAATGTTCATTTAGCT
CATGTATTTACAAAACTCTTACTAAAACTTAATTTTTGTGCCATAACAGTGTCTTTCCTGGATTACATTGTAACTGGAAGTAAGCATTTTCTAAAATAATAAAAGTGCCCTTAAGTTTAAACCA

hide sequence

RefSeq Acc Id:

XM_054374462 ⟹ XP_054230437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	13	19,334,689 - 19,357,997 (-)	NCBI


Protein RefSeqs	NP_068773	(Get FASTA)	NCBI Sequence Viewer
	XP_011533350	(Get FASTA)	NCBI Sequence Viewer
	XP_054230437	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD42925	(Get FASTA)	NCBI Sequence Viewer
	AAI21138	(Get FASTA)	NCBI Sequence Viewer
	AMH87772	(Get FASTA)	NCBI Sequence Viewer
	AMH87773	(Get FASTA)	NCBI Sequence Viewer
	AMH87774	(Get FASTA)	NCBI Sequence Viewer
	AMH87775	(Get FASTA)	NCBI Sequence Viewer
	ANT47182	(Get FASTA)	NCBI Sequence Viewer
	ANT47183	(Get FASTA)	NCBI Sequence Viewer
	AOE45499	(Get FASTA)	NCBI Sequence Viewer
	AOE45500	(Get FASTA)	NCBI Sequence Viewer
	BDS00528	(Get FASTA)	NCBI Sequence Viewer
	EAX08251	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000241125
	ENSP00000241125.3
GenBank Protein	Q9Y6H8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_068773 ⟸ NM_021954

- UniProtKB:

Q0VAB7 (UniProtKB/Swiss-Prot), Q9H537 (UniProtKB/Swiss-Prot), Q9Y6H8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQD
NPSSRDDRGRVRMAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGPDASEAPLGTADPPPLP
PSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEG
SALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI

hide sequence

RefSeq Acc Id:	XP_011533350 ⟸ XM_011535048
- Peptide Label:	isoform X1
- UniProtKB:	Q0VAB7 (UniProtKB/Swiss-Prot), Q9H537 (UniProtKB/Swiss-Prot), Q9Y6H8 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENV CYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYRCDRWPCPNTVDC FISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGPDASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHH LLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI hide sequence

Ensembl Acc Id:

ENSP00000241125 ⟸ ENST00000241125

RefSeq Acc Id:	XP_054230437 ⟸ XM_054374462
- Peptide Label:	isoform X1
- UniProtKB:	A0A654IE12 (UniProtKB/TrEMBL)

Protein Domains

Connexin N-terminal Gap junction protein cysteine-rich

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y6H8-F1-model_v2	AlphaFold	Q9Y6H8	1-435	view protein structure

RGD ID:

6790888

Promoter ID:

HG_KWN:17194

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid

Transcripts:

OTTHUMT00000044059

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	13	19,633,191 - 19,633,972 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	GJA3	COSMIC
Ensembl Genes	ENSG00000121743	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000241125	ENTREZGENE
	ENST00000241125.4	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.1440.80	UniProtKB/Swiss-Prot
GTEx	ENSG00000121743	GTEx
HGNC ID	HGNC:4277	ENTREZGENE
Human Proteome Map	GJA3	Human Proteome Map
InterPro	Connexin	UniProtKB/Swiss-Prot
	Connexin46	UniProtKB/Swiss-Prot
	Connexin_C	UniProtKB/Swiss-Prot
	Connexin_CCC	UniProtKB/Swiss-Prot
	Connexin_CS	UniProtKB/Swiss-Prot
	Connexin_N	UniProtKB/Swiss-Prot
	Connexin_N_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:2700	UniProtKB/Swiss-Prot
NCBI Gene	2700	ENTREZGENE
OMIM	121015	OMIM
PANTHER	PTHR11984	UniProtKB/Swiss-Prot
	PTHR11984:SF12	UniProtKB/Swiss-Prot
Pfam	Connexin	UniProtKB/Swiss-Prot
PharmGKB	PA28688	PharmGKB
PRINTS	CONNEXIN	UniProtKB/Swiss-Prot
	CONNEXINA3	UniProtKB/Swiss-Prot
PROSITE	CONNEXINS_1	UniProtKB/Swiss-Prot
	CONNEXINS_2	UniProtKB/Swiss-Prot
SMART	CNX	UniProtKB/Swiss-Prot
	Connexin_CCC	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF118220	UniProtKB/Swiss-Prot
UniProt	A0A140CTW5_HUMAN	UniProtKB/TrEMBL
	A0A140CTW6_HUMAN	UniProtKB/TrEMBL
	A0A140CTW7_HUMAN	UniProtKB/TrEMBL
	A0A140CTW8_HUMAN	UniProtKB/TrEMBL
	A0A1B1PFX4_HUMAN	UniProtKB/TrEMBL
	A0A1B1PFX6_HUMAN	UniProtKB/TrEMBL
	A0A1B3B2J5_HUMAN	UniProtKB/TrEMBL
	A0A1B3B2J9_HUMAN	UniProtKB/TrEMBL
	A0A654IE12	ENTREZGENE, UniProtKB/TrEMBL
	CXA3_HUMAN	UniProtKB/Swiss-Prot
	Q0VAB7	ENTREZGENE
	Q9H537	ENTREZGENE
	Q9Y6H8	ENTREZGENE
UniProt Secondary	Q0VAB7	UniProtKB/Swiss-Prot
	Q9H537	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-22	GJA3	gap junction protein alpha 3	CZP2	cataract, zonular pulverulent 2	Data merged from RGD:1354363	737654	PROVISIONAL
2015-11-17	GJA3	gap junction protein alpha 3		gap junction protein, alpha 3, 46kDa	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Human Phenotype Annotations - ClinVar