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Gene: GJB3 (gap junction protein beta 3) Homo sapiens

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Symbol:

GJB3

Name:

gap junction protein beta 3

RGD ID:

1347813

HGNC Page

HGNC:4285

Description:

Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within placenta development. Located in cell junction and intracellular membrane-bounded organelle. Implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; colorectal adenocarcinoma; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

connexin 31; connexin-31; CX31; DFNA2; DFNA2B; EKV; EKVP1; erythrokeratodermia variabilis; FLJ22486; gap junction beta-3 protein; gap junction protein, beta 3, 31kDa; gap junction protein, beta 3, 31kda (connexin 31); MGC102938

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):	Gjb3 (gap junction protein, beta 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gjb3 (gap junction protein, beta 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gjb3 (gap junction protein beta 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GJB3 (gap junction protein beta 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	GJB3 (gap junction protein beta 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gjb3 (gap junction protein beta 3)	NCBI	Ortholog
Sus scrofa (pig):	GJB3 (gap junction protein beta 3)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	GJB3 (gap junction protein beta 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gjb3 (gap junction protein beta 3)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gjb3 (gap junction protein, beta 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gjb3 (gap junction protein, beta 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cx35.4 (connexin 35.4)	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	gjb3.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	gjb3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	gjb3.S	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	1	34,781,214 - 34,786,364 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	34,781,214 - 34,786,369 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	35,246,815 - 35,251,965 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	35,019,377 - 35,024,554 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	34,915,882 - 34,921,057	NCBI
Celera	1	33,520,514 - 33,525,691 (+)	NCBI		Celera
Cytogenetic Map	1	p34.3	NCBI
HuRef	1	33,364,392 - 33,369,569 (+)	NCBI		HuRef
CHM1_1	1	35,362,359 - 35,367,536 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	34,643,843 - 34,648,993 (+)	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)
GJB3	Human	colorectal adenocarcinoma	susceptibility	IAGP		152177496	DNA:SNP:3'utr: (rs9118) C>G (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		12050153	DNA:missense mutation:cds:p.R42P (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		12436729	DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		11097171	DNA:missense mutation:exon:p.R42P (125G>C) (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		12436731	DNA:missense mutation:exon:p.L209F (625C>T) (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		12436734	DNA:missense mutation:exon:p.L135V (c.403C>G) (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		1578480	DNA:missense mutations:cds:p.G12D and p.L209F (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		11251416	DNA:missense mutation:exon:p.T202N (c.605C>A) (human)	RGD
GJB3	Human	erythrokeratodermia variabilis		IAGP		12437067	DNA:missense mutation:exon:p.G45E (c.134G>A)(human)	RGD
GJB3	Human	Erythrokeratodermia Variabilis, Autosomal Recessive		IAGP		12050155	DNA:missense mutation:CDS:p.L34P (101T>C) (human)	RGD
GJB3	Human	Erythrokeratodermia Variabilis, Autosomal Recessive		IAGP		12436733	DNA:missense mutation:exon:p.V30I (c.G88A) (human)	RGD
GJB3	Human	Nonsyndromic Sensorineural Hearing Loss	no_association	IAGP		12050154	DNA:missense mutation more ...	RGD
GJB3	Human	Nonsyndromic Sensorineural Hearing Loss		IAGP		7364900	DNA:missense mutations:cds:p.N166S and p.A194T (human)	RGD
GJB3	Human	Nonsyndromic Sensorineural Hearing Loss		IAGP		1300214	DNA:nonsense mutation more ...	RGD
GJB3	Human	placental insufficiency		ISO	Gjb3 (Mus musculus)	12436730		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:25741868
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:24033266 more ...
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:16077902 more ...
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:25214170 more ...
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:12019212 and PMID:25741868
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:19050930 more ...
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal dominant 2b	ClinVar	PMID:24033266 more ...
GJB3	Human	autosomal recessive nonsyndromic deafness		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive	ClinVar	PMID:10587579
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness more ...	ClinVar	PMID:19050930
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1A	ClinVar	PMID:25741868
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1A	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1A	ClinVar	PMID:12791041 more ...
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness more ...	ClinVar	PMID:19050930 more ...
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1A	ClinVar	PMID:24033266 more ...
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 1A	ClinVar
GJB3	Human	autosomal recessive nonsyndromic deafness 8		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness and autosomal recessive 10	ClinVar	PMID:25741868
GJB3	Human	Charcot-Marie-Tooth disease dominant intermediate C		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C	ClinVar	PMID:28492532
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:25741868
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:12019212 and PMID:25741868
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:19050930 more ...
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA and PROGRESSIVE SYMMETRIC	ClinVar	PMID:28492532
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:28492532
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:25741868
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:15131355 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:9843209
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:12019212 and PMID:25741868
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:22617145 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:12165562 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:10587579 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:19050930 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:10888284 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:24033266 and PMID:28492532
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:24033266 more ...
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:26467025
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	ClinVar	PMID:10594760 and PMID:10798362
GJB3	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:24033266 more ...
GJB3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
GJB3	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
GJB3	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
GJB3	Human	Hearing Loss		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Recessive	ClinVar	PMID:10587579
GJB3	Human	Hearing Loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:11309368 more ...
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:25741868
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:28492532
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:24033266 more ...
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:24033266 more ...
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:12019212 and PMID:25741868
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:19050930 more ...
GJB3	Human	Keratoderma Palmoplantaris Transgrediens		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	ClinVar	PMID:24033266 more ...
GJB3	Human	nonsyndromic deafness		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nonsyndromic Deafness	ClinVar	PMID:25741868 and PMID:28492532
GJB3	Human	Nonsyndromic Sensorineural Hearing Loss		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Dominant	ClinVar
GJB3	Human	sensorineural hearing loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Deafness more ...	ClinVar	PMID:11309368 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
GJB3	Human	Deafness		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9843210
GJB3	Human	epidermolytic hyperkeratosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16297190
GJB3	Human	erythrokeratodermia variabilis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9843209
GJB3	Human	peripheral nervous system disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:11309368
GJB3	Human	sensorineural hearing loss		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:11309368
GJB3	Human	skin disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16372802

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	erythrokeratodermia variabilis		ISS	Gjb3 (Mus musculus)	13592920		MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	autosomal dominant nonsyndromic deafness 2B		IAGP		7240710		OMIM
GJB3	Human	autosomal recessive nonsyndromic deafness 1A		IAGP		7240710		OMIM
GJB3	Human	erythrokeratodermia variabilis et progressiva 1		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)
GJB3	Human	1,1,1-trichloroethane	increases expression	ISO	Gjb3 (Mus musculus)	6480464	1 more ...	CTD	PMID:25270620
GJB3	Human	1,2-dichloroethane	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	ethylene dichloride results in decreased expression of GJB3 mRNA	CTD	PMID:28960355
GJB3	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol binds to ESR2 protein] which results in increased expression of GJB3 mRNA	CTD	PMID:20404318
GJB3	Human	17beta-hydroxy-5alpha-androstan-3-one	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Dihydrotestosterone results in decreased expression of GJB3 mRNA	CTD	PMID:17023530
GJB3	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of GJB3 mRNA	CTD	PMID:19933214
GJB3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Gjb3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of GJB3 mRNA	CTD	PMID:21570461
GJB3	Human	4,4'-sulfonyldiphenol	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	bisphenol S results in decreased expression of GJB3 mRNA	CTD	PMID:30951980
GJB3	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Gjb3 (Mus musculus)	6480464	bisphenol S affects the methylation of GJB3 gene	CTD	PMID:31683443
GJB3	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Fenretinide results in increased expression of GJB3 mRNA	CTD	PMID:28973697
GJB3	Human	5-aza-2'-deoxycytidine	multiple interactions	EXP		6480464	Decitabine inhibits the reaction [Smoke results in decreased expression of GJB3 mRNA]	CTD	PMID:21095227
GJB3	Human	5-aza-2'-deoxycytidine	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Decitabine results in decreased expression of GJB3 mRNA	CTD	PMID:19222872
GJB3	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased expression of GJB3 mRNA	CTD	PMID:38460933
GJB3	Human	all-trans-retinoic acid	multiple interactions	ISO	Gjb3 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of GJB3 mRNA	CTD	PMID:36189433
GJB3	Human	alpha-Zearalanol	multiple interactions	ISO	Gjb3 (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of GJB3 mRNA	CTD	PMID:35163327
GJB3	Human	ammonium chloride	affects expression	ISO	Gjb3 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of GJB3 mRNA	CTD	PMID:16483693
GJB3	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of GJB3 gene	CTD	PMID:25304211
GJB3	Human	arsane	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Arsenic results in increased expression of GJB3 mRNA	CTD	PMID:36720308
GJB3	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of GJB3 gene	CTD	PMID:25304211
GJB3	Human	arsenic atom	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Arsenic results in increased expression of GJB3 mRNA	CTD	PMID:36720308
GJB3	Human	arsenous acid	decreases response to substance	EXP		6480464	GJB3 protein results in decreased susceptibility to Arsenic Trioxide	CTD	PMID:20707922
GJB3	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of GJB3 mRNA	CTD	PMID:31255691
GJB3	Human	benzo[a]pyrene	decreases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	Benzo(a)pyrene results in decreased expression of GJB3 mRNA	CTD	PMID:34283317
GJB3	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of GJB3 mRNA	CTD	PMID:32234424
GJB3	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of GJB3 exon and Benzo(a)pyrene results in decreased methylation of GJB3 promoter	CTD	PMID:27901495
GJB3	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of GJB3 5' UTR	CTD	PMID:27901495
GJB3	Human	beta-lapachone	increases expression	EXP		6480464	beta-lapachone results in increased expression of GJB3 mRNA	CTD	PMID:38218311
GJB3	Human	bisphenol A	increases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of GJB3 mRNA	CTD	PMID:25181051
GJB3	Human	bisphenol A	increases expression	ISO	Gjb3 (Mus musculus)	6480464	bisphenol A results in increased expression of GJB3 mRNA	CTD	PMID:32156529
GJB3	Human	bisphenol A	increases methylation	ISO	Gjb3 (Mus musculus)	6480464	bisphenol A results in increased methylation of GJB3 promoter	CTD	PMID:27312807
GJB3	Human	bisphenol A	decreases methylation	ISO	Gjb3 (Mus musculus)	6480464	bisphenol A results in decreased methylation of GJB3 promoter	CTD	PMID:27312807
GJB3	Human	cadmium atom	multiple interactions	ISO	Gjb3 (Mus musculus)	6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of GJB3 mRNA	CTD	PMID:37325564
GJB3	Human	cadmium dichloride	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Cadmium Chloride results in increased expression of GJB3 mRNA	CTD	PMID:24982889
GJB3	Human	cadmium dichloride	multiple interactions	ISO	Gjb3 (Mus musculus)	6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of GJB3 mRNA	CTD	PMID:37325564
GJB3	Human	camptothecin	increases expression	EXP		6480464	Camptothecin results in increased expression of GJB3 mRNA	CTD	PMID:38460933
GJB3	Human	carbon nanotube	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
GJB3	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to GJB3 gene]	CTD	PMID:28238834
GJB3	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of GJB3 mRNA	CTD	PMID:27989131
GJB3	Human	DDE	decreases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in decreased expression of GJB3 mRNA	CTD	PMID:38568856
GJB3	Human	dexamethasone	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Dexamethasone results in decreased expression of GJB3 mRNA	CTD	PMID:22733784
GJB3	Human	diarsenic trioxide	decreases response to substance	EXP		6480464	GJB3 protein results in decreased susceptibility to Arsenic Trioxide	CTD	PMID:20707922
GJB3	Human	dibenzo[a,l]pyrene	decreases expression	EXP		6480464	dibenzo(a and l)pyrene results in decreased expression of GJB3 mRNA	CTD	PMID:31255691
GJB3	Human	dioxygen	multiple interactions	ISO	Gjb3 (Mus musculus)	6480464	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of GJB3 mRNA	CTD	PMID:30529165
GJB3	Human	endosulfan	increases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of GJB3 mRNA	CTD	PMID:29391264
GJB3	Human	ethylparaben	increases expression	EXP		6480464	ethyl-p-hydroxybenzoate results in increased expression of GJB3 mRNA	CTD	PMID:37690743
GJB3	Human	fenvalerate	increases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	fenvalerate results in increased expression of GJB3 mRNA	CTD	PMID:30307764
GJB3	Human	furan	increases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	furan results in increased expression of GJB3 mRNA	CTD	PMID:27387713
GJB3	Human	genistein	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Genistein results in increased expression of GJB3 mRNA	CTD	PMID:32186404
GJB3	Human	Heptachlor epoxide	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Heptachlor Epoxide results in decreased expression of GJB3 mRNA	CTD	PMID:25270620
GJB3	Human	lead(0)	affects methylation	EXP		6480464	Lead affects the methylation of GJB3 gene	CTD	PMID:31636367
GJB3	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	Gjb3 (Mus musculus)	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in decreased expression of GJB3 mRNA	CTD	PMID:36189433
GJB3	Human	mono(2-ethylhexyl) phthalate	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of GJB3 mRNA	CTD	PMID:36189433
GJB3	Human	Muraglitazar	decreases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	muraglitazar results in decreased expression of GJB3 mRNA	CTD	PMID:21515302
GJB3	Human	N-Nitrosopyrrolidine	increases expression	EXP		6480464	N-Nitrosopyrrolidine results in increased expression of GJB3 mRNA	CTD	PMID:32234424
GJB3	Human	naphthalene	increases expression	ISO	Gjb3 (Mus musculus)	6480464	naphthalene results in increased expression of GJB3 mRNA	CTD	PMID:18978301
GJB3	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased expression of GJB3 mRNA	CTD	PMID:38460933
GJB3	Human	ozone	multiple interactions	ISO	Gjb3 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in increased expression of GJB3 mRNA more ...	CTD	PMID:25658374 more ...
GJB3	Human	ozone	increases expression	ISO	Gjb3 (Mus musculus)	6480464	Ozone results in increased expression of GJB3 mRNA	CTD	PMID:33026818
GJB3	Human	paracetamol	decreases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of GJB3 mRNA	CTD	PMID:33387578
GJB3	Human	paraquat	increases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	Paraquat results in increased expression of GJB3 mRNA	CTD	PMID:32680482
GJB3	Human	perfluorooctanoic acid	multiple interactions	ISO	Gjb3 (Rattus norvegicus)	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in decreased expression of GJB3 mRNA	CTD	PMID:35163327
GJB3	Human	permethrin	increases expression	EXP		6480464	Permethrin results in increased expression of GJB3 mRNA	CTD	PMID:37047231
GJB3	Human	pirinixic acid	multiple interactions	EXP		6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of GJB3 mRNA	CTD	PMID:19710929
GJB3	Human	progesterone	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Progesterone results in decreased expression of GJB3 mRNA	CTD	PMID:22238285
GJB3	Human	silicon dioxide	increases expression	EXP		6480464	Silicon Dioxide analog results in increased expression of GJB3 mRNA	CTD	PMID:25895662
GJB3	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of GJB3 mRNA	CTD	PMID:38568856
GJB3	Human	sodium arsenite	increases expression	ISO	Gjb3 (Mus musculus)	6480464	sodium arsenite results in increased expression of GJB3 mRNA	CTD	PMID:37682722
GJB3	Human	sotorasib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of GJB3 mRNA	CTD	PMID:36139627
GJB3	Human	Tesaglitazar	decreases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	tesaglitazar results in decreased expression of GJB3 mRNA	CTD	PMID:21515302
GJB3	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of GJB3 mRNA	CTD	PMID:38568856
GJB3	Human	titanium dioxide	increases expression	ISO	Gjb3 (Mus musculus)	6480464	titanium dioxide results in increased expression of GJB3 mRNA	CTD	PMID:27760801
GJB3	Human	titanium dioxide	decreases methylation	ISO	Gjb3 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of GJB3 gene	CTD	PMID:35295148
GJB3	Human	trametinib	multiple interactions	EXP		6480464	[sotorasib co-treated with trametinib co-treated with NVP-BKM120] results in decreased expression of GJB3 mRNA	CTD	PMID:36139627
GJB3	Human	troglitazone	decreases expression	ISO	Gjb3 (Rattus norvegicus)	6480464	troglitazone results in decreased expression of GJB3 mRNA	CTD	PMID:21515302
GJB3	Human	valproic acid	decreases expression	ISO	Gjb3 (Mus musculus)	6480464	Valproic Acid results in decreased expression of GJB3 mRNA	CTD	PMID:19136453 and PMID:21427059

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)
GJB3	Human	cell communication	involved_in	IEA	InterPro:IPR000500 more ...	150520179		InterPro	GO_REF:0000002
GJB3	Human	cell-cell signaling	involved_in	IBA	MGI:1334209 more ...	150520179		GO_Central	GO_REF:0000033
GJB3	Human	cellular response to retinoic acid		ISO	Gjb3 (Rattus norvegicus)	9068941		RGD	PMID:8806447 and REF_RGD_ID:12437074
GJB3	Human	in utero embryonic development		ISO	Gjb3 (Rattus norvegicus)	9068941		RGD	PMID:9291584 and REF_RGD_ID:1599752
GJB3	Human	placenta development	acts_upstream_of_or_within	IEA	UniProtKB:P28231 and ensembl:ENSMUSP00000046755	150520179		Ensembl	GO_REF:0000107
GJB3	Human	skin development		ISO	Gjb3 (Rattus norvegicus)	9068941		RGD	PMID:8081010 and REF_RGD_ID:1599753
GJB3	Human	spermatogenesis		ISO	Gjb3 (Rattus norvegicus)	9068941		RGD	PMID:10405153 and REF_RGD_ID:12437073
GJB3	Human	transmembrane transport	involved_in	IEA	GO:0005243	150520179		GOC	GO_REF:0000108

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)
GJB3	Human	anchoring junction	located_in	IEA	UniProtKB-KW:KW-0965	150520179		UniProt	GO_REF:0000043
GJB3	Human	cell junction	located_in	IDA		150520179		HPA	GO_REF:0000052
GJB3	Human	cell-cell junction	located_in	IEA	UniProtKB:P28231 and ensembl:ENSMUSP00000046755	150520179		Ensembl	GO_REF:0000107
GJB3	Human	connexin complex	part_of	IEA	InterPro:IPR000500 more ...	150520179		InterPro	GO_REF:0000002
GJB3	Human	connexin complex	part_of	IBA	MGI:2384150 more ...	150520179		GO_Central	GO_REF:0000033
GJB3	Human	cytoplasm	located_in	IEA	UniProtKB:P28231 and ensembl:ENSMUSP00000046755	150520179		Ensembl	GO_REF:0000107
GJB3	Human	gap junction		ISO	Gjb3 (Rattus norvegicus)	9068941		RGD	PMID:12123633 and REF_RGD_ID:12738139
GJB3	Human	gap junction	located_in	IEA	UniProtKB:P28231 and ensembl:ENSMUSP00000046755	150520179		Ensembl	GO_REF:0000107
GJB3	Human	gap junction	located_in	IEA	UniProtKB-KW:KW-0303	150520179		UniProt	GO_REF:0000043
GJB3	Human	gap junction	located_in	IEA	UniProtKB-SubCell:SL-0124	150520179		UniProt	GO_REF:0000044
GJB3	Human	gap junction	located_in	NAS		150520179	PMID:9704026	UniProt	PMID:9704026
GJB3	Human	intracellular membrane-bounded organelle	located_in	IDA		150520179		HPA	GO_REF:0000052
GJB3	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
GJB3	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
GJB3	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043

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)
GJB3	Human	gap junction channel activity	enables	NAS		150520179	PMID:9704026	UniProt	PMID:9704026
GJB3	Human	gap junction channel activity	enables	IBA	MGI:1339969 more ...	150520179		GO_Central	GO_REF:0000033
GJB3	Human	protein binding	enables	IPI	UniProtKB:A5PKU2 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
GJB3	Human	protein binding	enables	IPI	UniProtKB:Q9UHG3	150520179	PMID:33961781	IntAct	PMID:33961781

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	High-frequency sensorineural hearing impairment		IAGP		1300214	DNA:nonsense mutation more ...	RGD
GJB3	Human	Hyperkeratosis with erythema		IAGP		1578480	DNA:missense mutations:cds:p.G12D and p.L209F	RGD
GJB3	Human	Metabolic acidosis		IAGP		1302549	DNA:missense mutations:cds:multiple	RGD
GJB3	Human	Neoplasm of the large intestine	susceptibility	IAGP		152177496	DNA:SNP:3'utr: (rs9118) C>G (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	Abnormal blistering of the skin		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Abnormal cardiovascular system morphology		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Abnormal hair morphology		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Abnormal nail morphology		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Abnormal testis morphology		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Abnormal vestibular function		IAGP		8699517		HPO	MIM:220290
GJB3	Human	Alopecia		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:612644
GJB3	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:220290
GJB3	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Brachydactyly		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Cataract		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Corneal opacity		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Cutaneous photosensitivity		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Diabetes mellitus		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Digenic inheritance		IAGP		8699517		HPO	MIM:220290
GJB3	Human	Dry skin		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Epidermal acanthosis		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Erythema		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Erythroderma		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Generalized hirsutism		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Generalized hyperkeratosis		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Glaucoma		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Hearing impairment		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	High-frequency hearing impairment		IAGP		8699517		HPO	MIM:612644
GJB3	Human	Hypergranulosis		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Hyperkeratosis		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Hypermelanotic macule		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Infantile onset		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Irregular hyperpigmentation		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Macule		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Neoplasm of the skin		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Patchy palmoplantar hyperkeratosis		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Patchy palmoplantar hyperkeratosis		IAGP		8699517		HPO	MIM:133200
GJB3	Human	Protruding ear		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	MIM:220290
GJB3	Human	Short stature		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Skin rash		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Tapered finger		IAGP		8699517		HPO	ORPHA:317
GJB3	Human	Weight loss		IAGP		8699517		HPO	ORPHA:317

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
GJB3	Human	Hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:11309368 more ...

#	Reference Title	Reference Citation
1.	Clinical and genetic heterogeneity of erythrokeratoderma variabilis.	Common JE, etal., J Invest Dermatol. 2005 Nov;125(5):920-7.
2.	Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.	Frei K, etal., Hear Res. 2004 Aug;194(1-2):81-6.
3.	Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.	Fuchs-Telem D, etal., Clin Exp Dermatol. 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.	Gottfried I, etal., Hum Mol Genet. 2002 May 15;11(11):1311-6.
6.	Impact of Genetic Variation in MicroRNA-binding Site on Susceptibility to Colorectal Cancer.	Kang BW, etal., Anticancer Res. 2016 Jul;36(7):3353-61.
7.	Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.	Liu XZ, etal., Hum Genet. 2009 Feb;125(1):53-62. doi: 10.1007/s00439-008-0602-9. Epub 2008 Dec 3.
8.	A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.	Morley SM, etal., Br J Dermatol. 2005 Jun;152(6):1143-8.
9.	Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.	Morrone A, etal., Am J Med Genet 2002 Jul 22;111(1):10-8.
10.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
11.	Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation.	Plum A, etal., Dev Biol. 2001 Mar 15;231(2):334-47.
12.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
14.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15.	The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.	Richard G, etal., Hum Genet. 2000 Mar;106(3):321-9.
16.	Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.	Richard G, etal., Nat Genet. 1998 Dec;20(4):366-9.
17.	Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.	Scott CA, etal., Clin Exp Dermatol. 2011 Jan;36(1):88-90.
18.	The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.	Sugiura K, etal., Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28.
19.	A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.	Wang W, etal., Clin Exp Dermatol. 2012 Dec;37(8):919-21. doi: 10.1111/j.1365-2230.2012.04406.x. Epub 2012 Jun 8.
20.	Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.	Wilgoss A, etal., J Invest Dermatol. 1999 Dec;113(6):1119-22.
21.	Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.	Xia JH, etal., Nat Genet 1998 Dec;20(4):370-3.

PMID:8035838	PMID:9126484	PMID:9704026	PMID:10587579	PMID:10757647	PMID:10790215	PMID:11309368	PMID:12154091	PMID:12165562	PMID:12176042	PMID:12477932	PMID:12630965
PMID:12702148	PMID:14583444	PMID:15489334	PMID:16077902	PMID:16341674	PMID:16406239	PMID:16549784	PMID:16710414	PMID:17207965	PMID:17672988	PMID:18338563	PMID:18607988
PMID:18809214	PMID:18988928	PMID:19027966	PMID:19254696	PMID:19523148	PMID:19558834	PMID:19744334	PMID:19755382	PMID:19814620	PMID:19864490	PMID:20301449	PMID:20301607
PMID:20593197	PMID:20627047	PMID:20668687	PMID:21055240	PMID:21198793	PMID:21873635	PMID:21916817	PMID:21950330	PMID:21988832	PMID:22393412	PMID:22617145	PMID:23638949
PMID:23678955	PMID:24913888	PMID:26037344	PMID:26251042	PMID:27176802	PMID:29106878	PMID:29570224	PMID:29926981	PMID:29992552	PMID:30036422	PMID:30235673	PMID:30298483
PMID:31035178	PMID:31599015	PMID:32296183	PMID:32645618	PMID:33961781	PMID:38029595	PMID:38956497

GJB3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	34,781,214 - 34,786,364 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	34,781,214 - 34,786,369 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	35,246,815 - 35,251,965 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	35,019,377 - 35,024,554 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	34,915,882 - 34,921,057	NCBI
Celera	1	33,520,514 - 33,525,691 (+)	NCBI		Celera
Cytogenetic Map	1	p34.3	NCBI
HuRef	1	33,364,392 - 33,369,569 (+)	NCBI		HuRef
CHM1_1	1	35,362,359 - 35,367,536 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	34,643,843 - 34,648,993 (+)	NCBI		T2T-CHM13v2.0

Gjb3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	127,219,028 - 127,224,633 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	127,219,028 - 127,224,637 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	127,325,235 - 127,330,836 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	127,325,235 - 127,330,844 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	127,002,479 - 127,008,080 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	126,827,539 - 126,831,465 (-)	NCBI		MGSCv36	mm8
Celera	4	125,659,630 - 125,665,228 (-)	NCBI		Celera
Cytogenetic Map	4	D2.2	NCBI
cM Map	4	61.48	NCBI

Gjb3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	144,933,692 - 144,939,435 (-)	NCBI		GRCr8
mRatBN7.2	5	139,649,227 - 139,654,970 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	139,649,195 - 139,654,980 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	142,344,777 - 142,345,589 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	144,114,766 - 144,115,578 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	144,115,567 - 144,116,379 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	145,390,590 - 145,397,271 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	145,391,311 - 145,392,123 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	149,158,599 - 149,164,702 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	146,771,804 - 146,772,616 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	146,781,842 - 146,782,655 (-)	NCBI
Celera	5	138,143,911 - 138,144,723 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Gjb3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955452	12,892,687 - 12,896,290 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955452	12,892,687 - 12,896,290 (+)	NCBI	ChiLan1.0	ChiLan1.0

GJB3
(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	1	192,059,544 - 192,064,679 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	191,180,713 - 191,185,856 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	34,048,136 - 34,053,298 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	35,229,660 - 35,234,821 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

GJB3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	7,175,010 - 7,177,145 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	7,413,106 - 7,418,450 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	7,319,962 - 7,325,307 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	7,320,683 - 7,321,495 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	7,182,367 - 7,187,711 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	7,230,346 - 7,235,691 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	7,244,564 - 7,249,909 (-)	NCBI		UU_Cfam_GSD_1.0

Gjb3
(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_024405058	51,602,426 - 51,606,586 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936474	17,429,926 - 17,430,729 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936474	17,427,255 - 17,431,368 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GJB3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	91,031,849 - 91,037,542 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	91,031,378 - 91,037,548 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

GJB3
(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	20	98,100,285 - 98,106,517 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	98,102,413 - 98,103,225 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	18,734,683 - 18,739,822 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gjb3
(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_004624764	17,829,467 - 17,833,465 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624764	17,829,214 - 17,833,509 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in GJB3
207 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000006855]	Chr1:34784796 [GRCh38] Chr1:35250397 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000006856]\|not provided [RCV002512854]	Chr1:34784797 [GRCh38] Chr1:35250398 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000006857]	Chr1:34785018 [GRCh38] Chr1:35250619 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 2B [RCV000006858]\|Erythrokeratodermia variabilis et progressiva 1 [RCV000377207]\|GJB3-related disorder [RCV004751206]\|not provided [RCV000724272]\|not specified [RCV000175942]	Chr1:34785309 [GRCh38] Chr1:35250910 [GRCh37] Chr1:1p34.3	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 2B [RCV000006859]\|not provided [RCV001762035]\|not specified [RCV000150742]	Chr1:34785300 [GRCh38] Chr1:35250901 [GRCh37] Chr1:1p34.3	pathogenic\|uncertain significance
NM_024009.3(GJB3):c.421_423del (p.Ile141del)	deletion	Hearing loss, autosomal recessive [RCV000006860]	Chr1:34785183..34785185 [GRCh38] Chr1:35250784..35250786 [GRCh37] Chr1:1p34.3	pathogenic\|uncertain significance
NM_024009.3(GJB3):c.421A>G (p.Ile141Val)	single nucleotide variant	Hearing loss, autosomal recessive [RCV000006861]	Chr1:34785183 [GRCh38] Chr1:35250784 [GRCh37] Chr1:1p34.3	pathogenic\|uncertain significance
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000006862]	Chr1:34784887 [GRCh38] Chr1:35250488 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.196_198del (p.Asp66del)	deletion	Deafness, autosomal dominant, with peripheral neuropathy [RCV000006863]\|Hearing impairment [RCV002243625]\|not provided [RCV000345579]\|not specified [RCV002468963]	Chr1:34784956..34784958 [GRCh38] Chr1:35250557..35250559 [GRCh37] Chr1:1p34.3	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 2B [RCV004584593]\|Erythrokeratodermia variabilis et progressiva 1 [RCV000006864]	Chr1:34784863 [GRCh38] Chr1:35250464 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.497A>G (p.Asn166Ser)	single nucleotide variant	Deafness, digenic, GJB2/GJB3 [RCV000006865]	Chr1:34785259 [GRCh38] Chr1:35250860 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV002504756]\|Deafness, digenic, GJB2/GJB3 [RCV000006866]\|Erythrokeratodermia variabilis et progressiva 1 [RCV000404541]\|not provided [RCV001510379]	Chr1:34785342 [GRCh38] Chr1:35250943 [GRCh37] Chr1:1p34.3	pathogenic\|benign\|likely benign
NM_024009.3(GJB3):c.166A>C (p.Lys56Gln)	single nucleotide variant	not provided [RCV000522054]	Chr1:34784928 [GRCh38] Chr1:35250529 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000262255]\|not provided [RCV002513538]\|not specified [RCV000039320]	Chr1:34785102 [GRCh38] Chr1:35250703 [GRCh37] Chr1:1p34.3	benign\|likely benign\|uncertain significance
NM_024009.3(GJB3):c.357C>T (p.Asn119=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 2B [RCV001701729]\|Erythrokeratodermia variabilis et progressiva 1 [RCV000367503]\|not provided [RCV001610336]\|not specified [RCV000039321]	Chr1:34785119 [GRCh38] Chr1:35250720 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.579C>T (p.Gly193=)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV002496626]\|Erythrokeratodermia variabilis et progressiva 1 [RCV000298991]\|not provided [RCV000884380]\|not specified [RCV000039322]	Chr1:34785341 [GRCh38] Chr1:35250942 [GRCh37] Chr1:1p34.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_024009.3(GJB3):c.589G>A (p.Val197Ile)	single nucleotide variant	not provided [RCV000757335]\|not specified [RCV000039323]	Chr1:34785351 [GRCh38] Chr1:35250952 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.798C>T (p.Asn266=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000270487]\|not provided [RCV001636628]\|not specified [RCV000039324]	Chr1:34785560 [GRCh38] Chr1:35251161 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001099929]\|not provided [RCV000755543]\|not specified [RCV000039325]	Chr1:34784856 [GRCh38] Chr1:35250457 [GRCh37] Chr1:1p34.3	benign\|likely benign
GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	copy number loss	See cases [RCV000137966]	Chr1:34753938..36055310 [GRCh38] Chr1:35219539..36520911 [GRCh37] Chr1:34992126..36293498 [NCBI36] Chr1:1p34.3	likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	copy number gain	See cases [RCV000138891]	Chr1:24381206..41401517 [GRCh38] Chr1:24707696..41886350 [GRCh37] Chr1:24580283..41658937 [NCBI36] Chr1:1p36.11-34.2	pathogenic
NM_024009.3(GJB3):c.99G>A (p.Val33=)	single nucleotide variant	not provided [RCV003556206]\|not specified [RCV000155863]	Chr1:34784861 [GRCh38] Chr1:35250462 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.293G>A (p.Arg98His)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001101939]\|Inborn genetic diseases [RCV002516152]\|not provided [RCV002466451]\|not specified [RCV000156165]	Chr1:34785055 [GRCh38] Chr1:35250656 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.-4C>T	single nucleotide variant	GJB3-related disorder [RCV003945185]\|not provided [RCV001589001]\|not specified [RCV000150738]	Chr1:34784759 [GRCh38] Chr1:35250360 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.546C>T (p.Thr182=)	single nucleotide variant	not provided [RCV003407570]\|not specified [RCV000150741]	Chr1:34785308 [GRCh38] Chr1:35250909 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)	deletion	not provided [RCV000724547]\|not specified [RCV000150744]	Chr1:34785413..34785424 [GRCh38] Chr1:35251015..35251026 [GRCh37] Chr1:1p34.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_024009.3(GJB3):c.313C>A (p.His105Asn)	single nucleotide variant	GJB3-related disorder [RCV003945186]\|not provided [RCV000894248]\|not specified [RCV000150739]	Chr1:34785075 [GRCh38] Chr1:35250676 [GRCh37] Chr1:1p34.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_024009.3(GJB3):c.477G>A (p.Pro159=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000332261]\|not provided [RCV000966742]\|not specified [RCV000150740]	Chr1:34785239 [GRCh38] Chr1:35250840 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.598G>A (p.Val200Ile)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000369054]\|not provided [RCV000966744]\|not specified [RCV000150743]	Chr1:34785360 [GRCh38] Chr1:35250961 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.372C>T (p.His124=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096516]\|not provided [RCV002056071]\|not specified [RCV000155093]	Chr1:34785134 [GRCh38] Chr1:35250735 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.64C>T (p.Arg22Cys)	single nucleotide variant	not provided [RCV002288667]\|not specified [RCV000155094]	Chr1:34784826 [GRCh38] Chr1:35250427 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.479G>A (p.Arg160His)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000287668]\|GJB3-related disorder [RCV003937450]\|not provided [RCV000953625]\|not specified [RCV000155095]	Chr1:34785241 [GRCh38] Chr1:35250842 [GRCh37] Chr1:1p34.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000338988]\|not provided [RCV000711805]\|not specified [RCV000155096]	Chr1:34785291 [GRCh38] Chr1:35250892 [GRCh37] Chr1:1p34.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_024009.3(GJB3):c.567C>T (p.Tyr189=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000408065]\|not provided [RCV000966743]\|not specified [RCV000155362]	Chr1:34785329 [GRCh38] Chr1:35250930 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.*429G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000371950]	Chr1:34786004 [GRCh38] Chr1:35251605 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.*43C>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000264955]\|not provided [RCV001651350]	Chr1:34785618 [GRCh38] Chr1:35251219 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.264G>A (p.Ser88=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000297468]\|GJB3-related disorder [RCV003920208]\|not provided [RCV000658505]\|not specified [RCV000613665]	Chr1:34785026 [GRCh38] Chr1:35250627 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000359108]\|GJB3-related disorder [RCV003949993]\|Inborn genetic diseases [RCV004021442]\|not provided [RCV000498188]	Chr1:34784985 [GRCh38] Chr1:35250586 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.109G>A (p.Val37Met)	single nucleotide variant	GJB3-related disorder [RCV003967570]\|not provided [RCV000757334]\|not specified [RCV000219961]	Chr1:34784871 [GRCh38] Chr1:35250472 [GRCh37] Chr1:1p34.3	benign\|likely benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000383152]	Chr1:34785253 [GRCh38] Chr1:35250854 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.660G>A (p.Lys220=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000362742]\|not provided [RCV003765738]	Chr1:34785422 [GRCh38] Chr1:35251023 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.165C>T (p.Thr55=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000407114]	Chr1:34784927 [GRCh38] Chr1:35250528 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.2(GJB3):c.-606T>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000373678]	Chr1:34781198 [GRCh38] Chr1:35246799 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*80G>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000281818]	Chr1:34785655 [GRCh38] Chr1:35251256 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-141C>G	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000329588]\|not provided [RCV000992082]	Chr1:34781663 [GRCh38] Chr1:35247264 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.*231G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000364786]\|not provided [RCV001537310]	Chr1:34785806 [GRCh38] Chr1:35251407 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.*369G>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000266768]\|not provided [RCV001612928]	Chr1:34785944 [GRCh38] Chr1:35251545 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.*626C>G	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000299207]	Chr1:34786201 [GRCh38] Chr1:35251802 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.-18C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000407109]	Chr1:34784745 [GRCh38] Chr1:35250346 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.*434G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000375531]\|not provided [RCV004713672]	Chr1:34786009 [GRCh38] Chr1:35251610 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.-407C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000338908]	Chr1:34781397 [GRCh38] Chr1:35246998 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.*53G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000322370]\|not provided [RCV001711884]	Chr1:34785628 [GRCh38] Chr1:35251229 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.*493C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000291436]\|not provided [RCV004713673]	Chr1:34786068 [GRCh38] Chr1:35251669 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.*218C>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000402777]\|not provided [RCV004713671]	Chr1:34785793 [GRCh38] Chr1:35251394 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.*559G>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000293494]\|not provided [RCV001651351]	Chr1:34786134 [GRCh38] Chr1:35251735 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.-399G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000351621]	Chr1:34781405 [GRCh38] Chr1:35247006 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.-307T>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000310478]	Chr1:34781497 [GRCh38] Chr1:35247098 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*191C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000313288]	Chr1:34785766 [GRCh38] Chr1:35251367 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-177G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000361221]	Chr1:34781627 [GRCh38] Chr1:35247228 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-231G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000323484]	Chr1:34781573 [GRCh38] Chr1:35247174 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.670C>G (p.Arg224Gly)	single nucleotide variant	Inborn genetic diseases [RCV002519244]\|not provided [RCV000335479]	Chr1:34785432 [GRCh38] Chr1:35251033 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.499G>A (p.Val167Met)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV000763901]\|not provided [RCV000407015]	Chr1:34785261 [GRCh38] Chr1:35250862 [GRCh37] Chr1:1p34.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_024009.3(GJB3):c.298G>A (p.Glu100Lys)	single nucleotide variant	not provided [RCV000490186]	Chr1:34785060 [GRCh38] Chr1:35250661 [GRCh37] Chr1:1p34.3	likely pathogenic
NM_024009.3(GJB3):c.-383G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000363945]	Chr1:34781421 [GRCh38] Chr1:35247022 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-159T>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000316925]	Chr1:34781645 [GRCh38] Chr1:35247246 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*120C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000393612]\|Nonsyndromic Hearing Loss, Dominant [RCV000348455]	Chr1:34785695 [GRCh38] Chr1:35251296 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-93C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000294622]	Chr1:34781711 [GRCh38] Chr1:35247312 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-398C>G	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000306828]	Chr1:34781406 [GRCh38] Chr1:35247007 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*541G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000352039]	Chr1:34786116 [GRCh38] Chr1:35251717 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*75del	deletion	Erythrokeratodermia variabilis et progressiva 1 [RCV000335663]\|Nonsyndromic Hearing Loss, Dominant [RCV000287194]	Chr1:34785650 [GRCh38] Chr1:35251251 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*532del	deletion	Erythrokeratodermia variabilis et progressiva 1 [RCV000287746]\|Nonsyndromic Hearing Loss, Dominant [RCV000382209]	Chr1:34786106 [GRCh38] Chr1:35251707 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*306C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV000359179]	Chr1:34785881 [GRCh38] Chr1:35251482 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.61G>A (p.Gly21Arg)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001099928]\|Inborn genetic diseases [RCV004629451]\|not provided [RCV001726429]	Chr1:34784823 [GRCh38] Chr1:35250424 [GRCh37] Chr1:1p34.3	benign\|uncertain significance
NM_024009.3(GJB3):c.*13G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001100032]	Chr1:34785588 [GRCh38] Chr1:35251189 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.379_387delinsTTCTTGGA (p.Leu127fs)	indel	not provided [RCV000414401]	Chr1:34785141..34785149 [GRCh38] Chr1:35250742..35250750 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.334C>A (p.Gln112Lys)	single nucleotide variant	Inborn genetic diseases [RCV004629214]\|not provided [RCV000421897]	Chr1:34785096 [GRCh38] Chr1:35250697 [GRCh37] Chr1:1p34.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	copy number loss	See cases [RCV000448022]	Chr1:34830287..36945093 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.110T>A (p.Val37Glu)	single nucleotide variant	not provided [RCV000481997]	Chr1:34784872 [GRCh38] Chr1:35250473 [GRCh37] Chr1:1p34.3	likely pathogenic
NM_024009.3(GJB3):c.718C>T (p.Arg240Cys)	single nucleotide variant	not provided [RCV000757336]	Chr1:34785480 [GRCh38] Chr1:35251081 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.386G>A (p.Trp129Ter)	single nucleotide variant	not provided [RCV000498714]	Chr1:34785148 [GRCh38] Chr1:35250749 [GRCh37] Chr1:1p34.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_024009.3(GJB3):c.572T>A (p.Met191Lys)	single nucleotide variant	GJB3-related disorder [RCV003396986]\|Inborn genetic diseases [RCV003302554]	Chr1:34785334 [GRCh38] Chr1:35250935 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.65G>T (p.Arg22Leu)	single nucleotide variant	Inborn genetic diseases [RCV003267938]	Chr1:34784827 [GRCh38] Chr1:35250428 [GRCh37] Chr1:1p34.3	uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)	single nucleotide variant	Nonsyndromic Deafness [RCV001844224]\|not provided [RCV002531414]	Chr1:34785465 [GRCh38] Chr1:35251066 [GRCh37] Chr1:1p34.3	likely pathogenic\|uncertain significance
NM_024009.3(GJB3):c.352G>A (p.Asp118Asn)	single nucleotide variant	not provided [RCV001665367]	Chr1:34785114 [GRCh38] Chr1:35250715 [GRCh37] Chr1:1p34.3	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3	copy number gain	not provided [RCV000748949]	Chr1:31562164..37421958 [GRCh37] Chr1:1p35.2-34.3	pathogenic
NM_024009.3(GJB3):c.328G>A (p.Gly110Arg)	single nucleotide variant	not provided [RCV001571558]	Chr1:34785090 [GRCh38] Chr1:35250691 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.642C>A (p.Val214=)	single nucleotide variant	not provided [RCV001569210]	Chr1:34785404 [GRCh38] Chr1:35251005 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.646C>T (p.Arg216Ter)	single nucleotide variant	not provided [RCV001550657]	Chr1:34785408 [GRCh38] Chr1:35251009 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.235C>T (p.Leu79=)	single nucleotide variant	not provided [RCV000904425]	Chr1:34784997 [GRCh38] Chr1:35250598 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV002503056]\|Erythrokeratodermia variabilis et progressiva 1 [RCV001101937]\|not provided [RCV000968824]	Chr1:34785012 [GRCh38] Chr1:35250613 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV000770824]	Chr1:34784770 [GRCh38] Chr1:35250371 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.57G>A (p.Ala19=)	single nucleotide variant	not provided [RCV000883463]	Chr1:34784819 [GRCh38] Chr1:35250420 [GRCh37] Chr1:1p34.3	likely benign
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	copy number loss	not provided [RCV000767772]	Chr1:32859415..36454915 [GRCh37] Chr1:1p35.1-34.3	pathogenic
NM_024009.3(GJB3):c.33C>T (p.Ser11=)	single nucleotide variant	not provided [RCV000827655]	Chr1:34784795 [GRCh38] Chr1:35250396 [GRCh37] Chr1:1p34.3	likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
NM_024009.3(GJB3):c.-25-46A>G	single nucleotide variant	not provided [RCV000832236]	Chr1:34784692 [GRCh38] Chr1:35250293 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.379C>T (p.Leu127=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096517]	Chr1:34785141 [GRCh38] Chr1:35250742 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.342del (p.Lys115fs)	deletion	Autosomal recessive nonsyndromic hearing loss 1A [RCV002479163]\|not provided [RCV000993968]	Chr1:34785103 [GRCh38] Chr1:35250704 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-293C>G	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001098151]	Chr1:34781511 [GRCh38] Chr1:35247112 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-480G>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096408]	Chr1:34781324 [GRCh38] Chr1:35246925 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.647G>A (p.Arg216Gln)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001098258]\|Inborn genetic diseases [RCV002557992]\|not provided [RCV002291719]	Chr1:34785409 [GRCh38] Chr1:35251010 [GRCh37] Chr1:1p34.3	benign\|likely benign\|uncertain significance
NM_024009.3(GJB3):c.347T>G (p.Leu116Arg)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096515]	Chr1:34785109 [GRCh38] Chr1:35250710 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.187G>A (p.Val63Ile)	single nucleotide variant	GJB3-related disorder [RCV003970442]\|not provided [RCV000917074]	Chr1:34784949 [GRCh38] Chr1:35250550 [GRCh37] Chr1:1p34.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_024009.3(GJB3):c.-40G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001099926]	Chr1:34781764 [GRCh38] Chr1:35247365 [GRCh37] Chr1:1p34.3	benign
NM_024009.3(GJB3):c.-477T>C	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096409]	Chr1:34781327 [GRCh38] Chr1:35246928 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-150C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001098153]	Chr1:34781654 [GRCh38] Chr1:35247255 [GRCh37] Chr1:1p34.3	uncertain significance
GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	copy number gain	not provided [RCV000847115]	Chr1:34915050..36163162 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.177C>A (p.Gly59=)	single nucleotide variant	not provided [RCV001571506]	Chr1:34784939 [GRCh38] Chr1:35250540 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV000855419]\|Inborn genetic diseases [RCV004029276]	Chr1:34785348 [GRCh38] Chr1:35250949 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.317G>A (p.Arg106His)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096514]\|not provided [RCV003883551]	Chr1:34785079 [GRCh38] Chr1:35250680 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 2B [RCV001334173]\|Erythrokeratodermia variabilis et progressiva 1 [RCV001101940]\|Inborn genetic diseases [RCV004032083]\|not provided [RCV001563512]	Chr1:34785078 [GRCh38] Chr1:35250679 [GRCh37] Chr1:1p34.3	benign\|uncertain significance
NM_024009.3(GJB3):c.297G>A (p.Glu99=)	single nucleotide variant	not provided [RCV000917103]	Chr1:34785059 [GRCh38] Chr1:35250660 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.249C>T (p.Phe83=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001101938]	Chr1:34785011 [GRCh38] Chr1:35250612 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-70C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001099925]	Chr1:34781734 [GRCh38] Chr1:35247335 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-3G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001099927]\|not provided [RCV002473199]	Chr1:34784760 [GRCh38] Chr1:35250361 [GRCh37] Chr1:1p34.3	benign\|uncertain significance
NM_024009.3(GJB3):c.*172G>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001100033]	Chr1:34785747 [GRCh38] Chr1:35251348 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*670C>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001096618]	Chr1:34786245 [GRCh38] Chr1:35251846 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.109G>C (p.Val37Leu)	single nucleotide variant	not provided [RCV001659090]	Chr1:34784871 [GRCh38] Chr1:35250472 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.247T>C (p.Phe83Leu)	single nucleotide variant	not provided [RCV002464774]	Chr1:34785009 [GRCh38] Chr1:35250610 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.595A>G (p.Ile199Val)	single nucleotide variant	not provided [RCV002469722]	Chr1:34785357 [GRCh38] Chr1:35250958 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.186C>T (p.Asn62=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001101936]\|not provided [RCV003405311]	Chr1:34784948 [GRCh38] Chr1:35250549 [GRCh37] Chr1:1p34.3	benign\|likely benign
NM_024009.3(GJB3):c.126C>T (p.Arg42=)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001101935]\|not provided [RCV001856389]	Chr1:34784888 [GRCh38] Chr1:35250489 [GRCh37] Chr1:1p34.3	likely benign\|uncertain significance
NM_024009.3(GJB3):c.134G>C (p.Gly45Ala)	single nucleotide variant	not provided [RCV001566437]	Chr1:34784896 [GRCh38] Chr1:35250497 [GRCh37] Chr1:1p34.3	likely pathogenic
NM_024009.3(GJB3):c.*370C>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001102020]	Chr1:34785945 [GRCh38] Chr1:35251546 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.-285C>A	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001098152]	Chr1:34781519 [GRCh38] Chr1:35247120 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.79G>A (p.Val27Met)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001196230]\|not provided [RCV002560219]	Chr1:34784841 [GRCh38] Chr1:35250442 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.*481C>T	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV001102021]	Chr1:34786056 [GRCh38] Chr1:35251657 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.157dup (p.Cys53fs)	duplication	not provided [RCV004598945]	Chr1:34784918..34784919 [GRCh38] Chr1:35250519..35250520 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.325C>A (p.His109Asn)	single nucleotide variant	not provided [RCV001356772]	Chr1:34785087 [GRCh38] Chr1:35250688 [GRCh37] Chr1:1p34.3	uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup	duplication	Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684]	Chr1:33241563..46663513 [GRCh37] Chr1:1p35.1-34.1	uncertain significance
NM_024009.3(GJB3):c.123G>T (p.Glu41Asp)	single nucleotide variant	not provided [RCV001755067]	Chr1:34784885 [GRCh38] Chr1:35250486 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.373G>A (p.Gly125Arg)	single nucleotide variant	Inborn genetic diseases [RCV004040217]\|not provided [RCV001761054]	Chr1:34785135 [GRCh38] Chr1:35250736 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.224G>A (p.Arg75His)	single nucleotide variant	not provided [RCV001732718]	Chr1:34784986 [GRCh38] Chr1:35250587 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.65G>A (p.Arg22His)	single nucleotide variant	not provided [RCV001754686]	Chr1:34784827 [GRCh38] Chr1:35250428 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.341C>A (p.Ala114Asp)	single nucleotide variant	not provided [RCV001765330]	Chr1:34785103 [GRCh38] Chr1:35250704 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.727C>T (p.His243Tyr)	single nucleotide variant	not provided [RCV001767415]	Chr1:34785489 [GRCh38] Chr1:35251090 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.53C>T (p.Thr18Ile)	single nucleotide variant	not provided [RCV001766959]	Chr1:34784815 [GRCh38] Chr1:35250416 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.197A>G (p.Asp66Gly)	single nucleotide variant	Inborn genetic diseases [RCV004040879]\|not provided [RCV001800146]	Chr1:34784959 [GRCh38] Chr1:35250560 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.479G>C (p.Arg160Pro)	single nucleotide variant	not provided [RCV001752728]	Chr1:34785241 [GRCh38] Chr1:35250842 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.776A>G (p.Lys259Arg)	single nucleotide variant	not provided [RCV001774299]	Chr1:34785538 [GRCh38] Chr1:35251139 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.388A>T (p.Thr130Ser)	single nucleotide variant	not provided [RCV001770711]	Chr1:34785150 [GRCh38] Chr1:35250751 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.219C>A (p.Asn73Lys)	single nucleotide variant	not provided [RCV001770756]	Chr1:34784981 [GRCh38] Chr1:35250582 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.337T>C (p.Cys113Arg)	single nucleotide variant	Inborn genetic diseases [RCV004631740]\|not provided [RCV001769086]	Chr1:34785099 [GRCh38] Chr1:35250700 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.616C>T (p.Leu206Phe)	single nucleotide variant	not provided [RCV001761089]	Chr1:34785378 [GRCh38] Chr1:35250979 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.667C>A (p.Pro223Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 1A [RCV004584932]\|GJB3-related disorder [RCV004752087]\|not provided [RCV001888944]\|not specified [RCV004801077]	Chr1:34785429 [GRCh38] Chr1:35251030 [GRCh37] Chr1:1p34.3	pathogenic\|uncertain significance
NM_024009.3(GJB3):c.736G>T (p.Val246Leu)	single nucleotide variant	not provided [RCV001756816]	Chr1:34785498 [GRCh38] Chr1:35251099 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.670C>T (p.Arg224Ter)	single nucleotide variant	not provided [RCV001758502]	Chr1:34785432 [GRCh38] Chr1:35251033 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.541C>A (p.Pro181Thr)	single nucleotide variant	not provided [RCV001926628]	Chr1:34785303 [GRCh38] Chr1:35250904 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.292C>T (p.Arg98Cys)	single nucleotide variant	not provided [RCV001967750]	Chr1:34785054 [GRCh38] Chr1:35250655 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.302G>A (p.Arg101Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 2B [RCV004584935]\|not provided [RCV001908701]	Chr1:34785064 [GRCh38] Chr1:35250665 [GRCh37] Chr1:1p34.3	likely pathogenic\|uncertain significance
NM_024009.3(GJB3):c.321G>C (p.Gln107His)	single nucleotide variant	not provided [RCV002043303]	Chr1:34785083 [GRCh38] Chr1:35250684 [GRCh37] Chr1:1p34.3	uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic
NM_024009.3(GJB3):c.724CAC[1] (p.His243del)	microsatellite	not provided [RCV002048012]	Chr1:34785485..34785487 [GRCh38] Chr1:35251086..35251088 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.726C>G (p.His242Gln)	single nucleotide variant	Inborn genetic diseases [RCV003166989]\|not provided [RCV001882294]	Chr1:34785488 [GRCh38] Chr1:35251089 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.283G>A (p.Val95Met)	single nucleotide variant	not provided [RCV001955183]	Chr1:34785045 [GRCh38] Chr1:35250646 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.719G>A (p.Arg240His)	single nucleotide variant	Inborn genetic diseases [RCV002558460]\|not provided [RCV001926266]	Chr1:34785481 [GRCh38] Chr1:35251082 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.503C>A (p.Ala168Asp)	single nucleotide variant	not provided [RCV002016857]	Chr1:34785265 [GRCh38] Chr1:35250866 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.381G>A (p.Leu127=)	single nucleotide variant	not provided [RCV002085071]	Chr1:34785143 [GRCh38] Chr1:35250744 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.174C>T (p.Pro58=)	single nucleotide variant	not provided [RCV002205362]	Chr1:34784936 [GRCh38] Chr1:35250537 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.462T>C (p.His154=)	single nucleotide variant	not provided [RCV002098450]	Chr1:34785224 [GRCh38] Chr1:35250825 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.282C>T (p.His94=)	single nucleotide variant	not provided [RCV002176240]	Chr1:34785044 [GRCh38] Chr1:35250645 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.783G>C (p.Gln261His)	single nucleotide variant	GJB3-related disorder [RCV003973758]\|not provided [RCV003110687]	Chr1:34785545 [GRCh38] Chr1:35251146 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.196G>A (p.Asp66Asn)	single nucleotide variant	not provided [RCV002244489]	Chr1:34784958 [GRCh38] Chr1:35250559 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.781C>T (p.Gln261Ter)	single nucleotide variant	not provided [RCV002275406]	Chr1:34785543 [GRCh38] Chr1:35251144 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.295G>A (p.Glu99Lys)	single nucleotide variant	not provided [RCV002283021]	Chr1:34785057 [GRCh38] Chr1:35250658 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.542C>G (p.Pro181Arg)	single nucleotide variant	not provided [RCV002467170]	Chr1:34785304 [GRCh38] Chr1:35250905 [GRCh37] Chr1:1p34.3	uncertain significance
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	copy number loss	not provided [RCV002474552]	Chr1:35104233..37357913 [GRCh37] Chr1:1p34.3	pathogenic
NM_024009.3(GJB3):c.422T>A (p.Ile141Asn)	single nucleotide variant	not provided [RCV003129081]	Chr1:34785184 [GRCh38] Chr1:35250785 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.132G>A (p.Trp44Ter)	single nucleotide variant	not provided [RCV002474014]	Chr1:34784894 [GRCh38] Chr1:35250495 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.344A>C (p.Lys115Thr)	single nucleotide variant	not provided [RCV002300788]	Chr1:34785106 [GRCh38] Chr1:35250707 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.551A>G (p.Lys184Arg)	single nucleotide variant	not provided [RCV002462633]	Chr1:34785313 [GRCh38] Chr1:35250914 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.655C>A (p.His219Asn)	single nucleotide variant	Inborn genetic diseases [RCV002776845]	Chr1:34785417 [GRCh38] Chr1:35251018 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.341C>T (p.Ala114Val)	single nucleotide variant	Inborn genetic diseases [RCV004985257]\|not provided [RCV002640431]	Chr1:34785103 [GRCh38] Chr1:35250704 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.130del (p.Trp44fs)	deletion	not provided [RCV002848020]	Chr1:34784892 [GRCh38] Chr1:35250493 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.239A>G (p.Gln80Arg)	single nucleotide variant	Inborn genetic diseases [RCV002757216]	Chr1:34785001 [GRCh38] Chr1:35250602 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.689C>T (p.Ser230Leu)	single nucleotide variant	not provided [RCV002700239]	Chr1:34785451 [GRCh38] Chr1:35251052 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.702C>T (p.Ser234=)	single nucleotide variant	not provided [RCV002872069]	Chr1:34785464 [GRCh38] Chr1:35251065 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.130T>A (p.Trp44Arg)	single nucleotide variant	not provided [RCV002574945]	Chr1:34784892 [GRCh38] Chr1:35250493 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.645G>A (p.Leu215=)	single nucleotide variant	not provided [RCV002791421]	Chr1:34785407 [GRCh38] Chr1:35251008 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.506C>T (p.Pro169Leu)	single nucleotide variant	not provided [RCV002643907]	Chr1:34785268 [GRCh38] Chr1:35250869 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.311G>A (p.Arg104Gln)	single nucleotide variant	Inborn genetic diseases [RCV004973770]\|not provided [RCV002966307]	Chr1:34785073 [GRCh38] Chr1:35250674 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.241C>G (p.Leu81Val)	single nucleotide variant	not provided [RCV003028350]	Chr1:34785003 [GRCh38] Chr1:35250604 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.139G>A (p.Glu47Lys)	single nucleotide variant	not provided [RCV004779635]	Chr1:34784901 [GRCh38] Chr1:35250502 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.175G>A (p.Gly59Ser)	single nucleotide variant	not provided [RCV003219109]	Chr1:34784937 [GRCh38] Chr1:35250538 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.104T>C (p.Val35Ala)	single nucleotide variant	not provided [RCV003227440]	Chr1:34784866 [GRCh38] Chr1:35250467 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.233C>A (p.Ala78Asp)	single nucleotide variant	not provided [RCV003222609]	Chr1:34784995 [GRCh38] Chr1:35250596 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.643C>G (p.Leu215Val)	single nucleotide variant	Inborn genetic diseases [RCV003197717]\|not provided [RCV003779657]	Chr1:34785405 [GRCh38] Chr1:35251006 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.673G>A (p.Gly225Arg)	single nucleotide variant	Inborn genetic diseases [RCV003211060]	Chr1:34785435 [GRCh38] Chr1:35251036 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.755A>G (p.Asp252Gly)	single nucleotide variant	not provided [RCV003319739]	Chr1:34785517 [GRCh38] Chr1:35251118 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.371A>G (p.His124Arg)	single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1 [RCV003330174]	Chr1:34785133 [GRCh38] Chr1:35250734 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.156C>G (p.Asp52Glu)	single nucleotide variant	Inborn genetic diseases [RCV003373513]	Chr1:34784918 [GRCh38] Chr1:35250519 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.378C>T (p.Gly126=)	single nucleotide variant	GJB3-related disorder [RCV004750909]\|not provided [RCV003571675]	Chr1:34785140 [GRCh38] Chr1:35250741 [GRCh37] Chr1:1p34.3	likely benign
Single allele	inversion	Bilateral polymicrogyria [RCV003459046]	Chr1:33246132..61045156 [GRCh38] Chr1:1p35.1-31.3	likely pathogenic
NM_024009.3(GJB3):c.671G>A (p.Arg224Gln)	single nucleotide variant	GJB3-related disorder [RCV003392877]\|Inborn genetic diseases [RCV004634255]\|not provided [RCV004593288]	Chr1:34785433 [GRCh38] Chr1:35251034 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.255A>G (p.Thr85=)	single nucleotide variant	not provided [RCV003406317]	Chr1:34785017 [GRCh38] Chr1:35250618 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.733C>T (p.Leu245=)	single nucleotide variant	not provided [RCV003546366]	Chr1:34785495 [GRCh38] Chr1:35251096 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.572T>C (p.Met191Thr)	single nucleotide variant	not provided [RCV003690288]	Chr1:34785334 [GRCh38] Chr1:35250935 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.258C>A (p.Cys86Ter)	single nucleotide variant	not provided [RCV003550211]	Chr1:34785020 [GRCh38] Chr1:35250621 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.777G>A (p.Lys259=)	single nucleotide variant	not provided [RCV003698670]	Chr1:34785539 [GRCh38] Chr1:35251140 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.292C>A (p.Arg98Ser)	single nucleotide variant	not provided [RCV003658934]	Chr1:34785054 [GRCh38] Chr1:35250655 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.476C>T (p.Pro159Leu)	single nucleotide variant	Inborn genetic diseases [RCV004981073]\|not provided [RCV003833823]	Chr1:34785238 [GRCh38] Chr1:35250839 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.611G>A (p.Cys204Tyr)	single nucleotide variant	not provided [RCV003837681]	Chr1:34785373 [GRCh38] Chr1:35250974 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.335A>G (p.Gln112Arg)	single nucleotide variant	not provided [RCV003672713]	Chr1:34785097 [GRCh38] Chr1:35250698 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.262T>G (p.Ser88Ala)	single nucleotide variant	not provided [RCV003855005]	Chr1:34785024 [GRCh38] Chr1:35250625 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.34G>A (p.Gly12Ser)	single nucleotide variant	not provided [RCV003562234]	Chr1:34784796 [GRCh38] Chr1:35250397 [GRCh37] Chr1:1p34.3	likely pathogenic
NM_024009.3(GJB3):c.131G>C (p.Trp44Ser)	single nucleotide variant	not provided [RCV003562236]	Chr1:34784893 [GRCh38] Chr1:35250494 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.243C>T (p.Leu81=)	single nucleotide variant	not provided [RCV003675048]	Chr1:34785005 [GRCh38] Chr1:35250606 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.161A>C (p.Asn54Thr)	single nucleotide variant	not provided [RCV003684064]	Chr1:34784923 [GRCh38] Chr1:35250524 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.108C>T (p.Tyr36=)	single nucleotide variant	GJB3-related disorder [RCV003943896]\|not provided [RCV005064839]	Chr1:34784870 [GRCh38] Chr1:35250471 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.87C>T (p.Phe29=)	single nucleotide variant	GJB3-related disorder [RCV003911837]	Chr1:34784849 [GRCh38] Chr1:35250450 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.652del (p.Leu218fs)	deletion	Autosomal recessive nonsyndromic hearing loss 8 [RCV004585204]	Chr1:34785413 [GRCh38] Chr1:35251014 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.791C>T (p.Ala264Val)	single nucleotide variant	Inborn genetic diseases [RCV004390796]	Chr1:34785553 [GRCh38] Chr1:35251154 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.56C>T (p.Ala19Val)	single nucleotide variant	Inborn genetic diseases [RCV004627127]	Chr1:34784818 [GRCh38] Chr1:35250419 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV004801687]	Chr1:34784763 [GRCh38] Chr1:35250364 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.350dup (p.Tyr117Ter)	duplication	Autosomal recessive nonsyndromic hearing loss 1A [RCV004796948]	Chr1:34785111..34785112 [GRCh38] Chr1:35250712..35250713 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.687del (p.Ser230fs)	deletion	Autosomal dominant nonsyndromic hearing loss 2B [RCV004790122]	Chr1:34785446 [GRCh38] Chr1:35251047 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.581C>A (p.Ala194Asp)	single nucleotide variant	not provided [RCV004729172]	Chr1:34785343 [GRCh38] Chr1:35250944 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.301C>T (p.Arg101Trp)	single nucleotide variant	not provided [RCV004770705]	Chr1:34785063 [GRCh38] Chr1:35250664 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.439T>C (p.Tyr147His)	single nucleotide variant	not provided [RCV004771021]	Chr1:34785201 [GRCh38] Chr1:35250802 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.128T>C (p.Val43Ala)	single nucleotide variant	not provided [RCV004773866]	Chr1:34784890 [GRCh38] Chr1:35250491 [GRCh37] Chr1:1p34.3	uncertain significance
GRCh37/hg19 1p34.3(chr1:35208698-36530353)x1	copy number loss	not provided [RCV004819710]	Chr1:35208698..36530353 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.308G>A (p.Arg103His)	single nucleotide variant	Inborn genetic diseases [RCV004982547]	Chr1:34785070 [GRCh38] Chr1:35250671 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.358G>A (p.Ala120Thr)	single nucleotide variant	not provided [RCV005087496]	Chr1:34785120 [GRCh38] Chr1:35250721 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.195C>T (p.Tyr65=)	single nucleotide variant	not provided [RCV005077322]	Chr1:34784957 [GRCh38] Chr1:35250558 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.481C>G (p.Leu161Val)	single nucleotide variant	not provided [RCV005197648]	Chr1:34785243 [GRCh38] Chr1:35250844 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.811T>C (p.Ter271Arg)	single nucleotide variant	not provided [RCV005167703]	Chr1:34785573 [GRCh38] Chr1:35251174 [GRCh37] Chr1:1p34.3	uncertain significance
NM_024009.3(GJB3):c.690G>A (p.Ser230=)	single nucleotide variant	not provided [RCV005186554]	Chr1:34785452 [GRCh38] Chr1:35251053 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.684C>T (p.Ser228=)	single nucleotide variant	not provided [RCV005207829]	Chr1:34785446 [GRCh38] Chr1:35251047 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.339C>T (p.Cys113=)	single nucleotide variant	not provided [RCV005139773]	Chr1:34785101 [GRCh38] Chr1:35250702 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.498C>T (p.Asn166=)	single nucleotide variant	not provided [RCV005200079]	Chr1:34785260 [GRCh38] Chr1:35250861 [GRCh37] Chr1:1p34.3	likely benign
NM_024009.3(GJB3):c.790G>A (p.Ala264Thr)	single nucleotide variant	not provided [RCV005151277]	Chr1:34785552 [GRCh38] Chr1:35251153 [GRCh37] Chr1:1p34.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1061
Count of miRNA genes:	350
Interacting mature miRNAs:	385
Transcripts:	ENST00000373362, ENST00000373366
Prediction methods:	Microtar, Miranda, Rnahybrid, 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.

GJB3_971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	35,251,284 - 35,252,037	UniSTS	GRCh37
Build 36	1	35,023,871 - 35,024,624	RGD	NCBI36
Celera	1	33,525,008 - 33,525,761	RGD
HuRef	1	33,368,886 - 33,369,639	UniSTS

SHGC-74581

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	35,251,734 - 35,251,866	UniSTS	GRCh37
Build 36	1	35,024,321 - 35,024,453	RGD	NCBI36
Celera	1	33,525,458 - 33,525,590	RGD
Cytogenetic Map	1	p34	UniSTS
HuRef	1	33,369,336 - 33,369,468	UniSTS
TNG Radiation Hybrid Map	1	16464.0	UniSTS
GeneMap99-GB4 RH Map	1	109.71	UniSTS
NCBI RH Map	1	224.7	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
1174	2379	2741	2168	4733	1646	2238	4	575	1229	418	2197	6302	5622	22	3538	754	1698	1550	174	1


RefSeq Transcripts	NG_008309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001005752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB839053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB839054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB839055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF052692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF099730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ004856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL547036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE673240	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM763034	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM846348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	OL471368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000373362 ⟹ ENSP00000362460

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	34,782,278 - 34,786,369 (+)	Ensembl

Ensembl Acc Id:

ENST00000373366 ⟹ ENSP00000362464

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	34,781,214 - 34,786,364 (+)	Ensembl

RefSeq Acc Id:

NM_001005752 ⟹ NP_001005752

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	34,782,268 - 34,786,364 (+)	NCBI
GRCh37	1	35,246,790 - 35,251,967 (+)	ENTREZGENE
Build 36	1	35,020,498 - 35,024,554 (+)	NCBI Archive
HuRef	1	33,364,392 - 33,369,569 (+)	ENTREZGENE
CHM1_1	1	35,363,480 - 35,367,536 (+)	NCBI
T2T-CHM13v2.0	1	34,644,897 - 34,648,993 (+)	NCBI

Sequence:

show sequence

GGGACTGGGCAGACAGCACCCAAGGGTAGAAGATGGGGGCCCAGGAGGGAGCTGCACCCTGGTGGGCAGCCATGGGAGTGTGTCAGGTGGAAGCAGCCGTCAGGGTCCCTCTCTGCTCTCTGTCCGGA
CAGACAGGGCTCCAACCTTCACTTCAGTTCTTGTGAACTCCCACCAGGTAGGCACGGCCCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGC
GTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTGGCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCA
ACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCTCATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGG
CACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGCACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTA
CCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAACGTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACT
TCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCTCATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCC
GCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGGATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAG
GGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGAGGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATT
TTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTA
GGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGGAGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCAC
AGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCTAAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAG
CAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCCCCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGG
TGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTGCTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACT
GTGTTTTATA

hide sequence

RefSeq Acc Id:

NM_024009 ⟹ NP_076872

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	34,781,214 - 34,786,364 (+)	NCBI
GRCh37	1	35,246,790 - 35,251,967 (+)	ENTREZGENE
Build 36	1	35,019,377 - 35,024,552 (+)	NCBI Archive
HuRef	1	33,364,392 - 33,369,569 (+)	ENTREZGENE
CHM1_1	1	35,362,359 - 35,367,534 (+)	NCBI
T2T-CHM13v2.0	1	34,643,843 - 34,648,993 (+)	NCBI

Sequence:

show sequence

ACTGTGCCCCTTCCCGCTGTGGGTACAAGGTCTGCCCCCCACCCCAGCTCTCCAAAGCCCACCG
GCCTCCCTGGAGGCCGAGGTCGACGGCCCGTCGCACCGGGAGGGGGGGCTCCCAGGGGTGCCCCACGCACGGTCAAGGTCCCGCGCCAAGCGGGGACCGGGCTGGGCCGGAAGCGGGCACGGTACTCG
CGGCAAACTAGCGTGGGCGAGTCCTGATTGCAGTCGGACCTGCCGCCGCGGCACTTAACAGTTTGCAGAGTGCTTCCCGCCCCTGATCTCATTGGAGCCTTCGGACAGCCCAGCCCATGGCCACCGAT
GCCCCCATTTCACGCCTGAGGAAGCGGAGGCTCAGACGGGCCACCAGCCCCTCCGGAGGCTGGCCCGGGAGCGCCTGGCAGCGTCGGGTCTAGGAGCCGGCTCCCTCCTGCTCCCTCCTCCGCGCCGC
CCGGGGTGTGCCCGCCGTCTGTGTGCACCACTGCTGAGCCCAGCTCCGGCGCCCTCGCCTCTGCTGTGGGCCCCGGGGACGCGGGGTCAGGCCACCGCGTTGGCCAGGCCGCTGCAGGTAGGCACGGC
CCCCACCAGGCGCCATGGACTGGAAGACACTCCAGGCCCTACTGAGCGGTGTGAACAAGTACTCCACAGCGTTCGGGCGCATCTGGCTGTCCGTGGTGTTCGTCTTCCGGGTGCTGGTATACGTGGTG
GCTGCAGAGCGCGTGTGGGGGGATGAGCAGAAGGACTTTGACTGCAACACCAAGCAGCCCGGCTGCACCAACGTCTGCTACGACAACTACTTCCCCATCTCCAACATCCGCCTCTGGGCCCTGCAGCT
CATCTTCGTCACATGCCCCTCGCTGCTGGTCATCCTGCACGTGGCCTACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGGGGACCAGTGCGCCAAGCTGTACGACAACGCAGGCAAGAAGC
ACGGAGGCCTGTGGTGGACCTACCTGTTCAGCCTCATCTTCAAGCTCATCATTGAGTTCCTCTTCCTCTACCTGCTGCACACTCTCTGGCATGGCTTCAATATGCCGCGCCTGGTGCAGTGTGCCAAC
GTGGCCCCCTGCCCCAACATCGTGGACTGCTACATTGCCCGACCTACCGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCGCCGTCTGCATCGTACTCACCATCTGTGAGCTCTGCTACCT
CATCTGCCACAGGGTCCTGCGAGGCCTGCACAAGGACAAGCCTCGAGGGGGTTGCAGCCCCTCGTCCTCCGCCAGCCGAGCTTCCACCTGCCGCTGCCACCACAAGCTGGTGGAGGCTGGGGAGGTGG
ATCCAGACCCAGGCAATAACAAGCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCACAGGGCAGGGGTGGGGCAACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAGGTGGAGA
GGTCCTACAGGGGCTGAGTGACCCCACTCTGAGTTCACTAAGTTATGCAACTTTCGTTTTGGCAGATATTTTTTGACACTGGGAACTGGGCTGTCTAGCCGGGTATAGGTAACCCACAGGCCCAGTGC
CAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAGGGGCCACTTAGGGCACTGCTAGCAGGGCTTCAACCAGGAAGGGATCAACCCAGGAAGGGATGATCAGG
AGAGGCTTCCCTGAGGACATAATGTGTAAGAGAGGTGAGAAGTGCTCCCAAGCAGACACAACAGCAGCACAGAGGTCTGGAGGCCACACAAAAAGTGATGCTCGCCCTGGGCTAGCCTCAGCAGACCT
AAGGCATCTCTACTCCCTCCAGAGGAGCCGCCCAGATTCCTGCAGTGGAGAGGAGGTCTTCCAGCAGCAGCAGGTCTGGAGGGCTGAGAATGAACCTGACTAGAGGTTCTGGAGATACCCAGAGGTCC
CCCAGGTCATCACTTGGCTCAGTGGAAGCCCTCTTTCCCCAAATCCTACTCCCTCAGCCTCAGGCAGTGGTGCTCCCATCTTCCTCCCCACAACTGTGCTCAGGCTGGTGCCAGCCTTTCAGACCCTG
CTCCCAGGGACTTGGGTGGATGCGCTGATAGAACATCCTCAAGACAGTTTCCTTGAAATCAATAAATACTGTGTTTTATA

hide sequence


Protein RefSeqs	NP_001005752	(Get FASTA)	NCBI Sequence Viewer
	NP_076872	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC95471	(Get FASTA)	NCBI Sequence Viewer
	AAD11816	(Get FASTA)	NCBI Sequence Viewer
	AAH12918	(Get FASTA)	NCBI Sequence Viewer
	AAI10641	(Get FASTA)	NCBI Sequence Viewer
	BAG35737	(Get FASTA)	NCBI Sequence Viewer
	CAA06165	(Get FASTA)	NCBI Sequence Viewer
	EAX07442	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000362460
	ENSP00000362460.3
	ENSP00000362464
	ENSP00000362464.2
GenBank Protein	O75712	(Get FASTA)	NCBI Sequence Viewer
	USC32474	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_076872 ⟸ NM_024009

- UniProtKB:

B2R790 (UniProtKB/Swiss-Prot), Q2TAZ8 (UniProtKB/Swiss-Prot), O75712 (UniProtKB/Swiss-Prot), A0A654ICK0 (UniProtKB/TrEMBL), A1YRJ5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLW
WTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPG
NNKLQASAPNLTPI

hide sequence

RefSeq Acc Id:

NP_001005752 ⟸ NM_001005752

- UniProtKB:

B2R790 (UniProtKB/Swiss-Prot), Q2TAZ8 (UniProtKB/Swiss-Prot), O75712 (UniProtKB/Swiss-Prot), A0A654ICK0 (UniProtKB/TrEMBL), A1YRJ5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVC
YDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIARPTEKKIFTYFMV
GASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCRCHHKLVEAGEVDPDPGNNKLQASAPNLTPI

hide sequence

Ensembl Acc Id:

ENSP00000362460 ⟸ ENST00000373362

Ensembl Acc Id:

ENSP00000362464 ⟸ ENST00000373366

Protein Domains

Connexin N-terminal Gap junction protein cysteine-rich

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75712-F1-model_v2	AlphaFold	O75712	1-270	view protein structure

RGD ID:

6854914

Promoter ID:

EPDNEW_H622

Type:

initiation region

Name:

GJB3_1

Description:

gap junction protein beta 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H623 EPDNEW_H624

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	34,781,214 - 34,781,274	EPDNEW

RGD ID:

6854916

Promoter ID:

EPDNEW_H623

Type:

initiation region

Name:

GJB3_3

Description:

gap junction protein beta 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H622 EPDNEW_H624

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	34,781,437 - 34,781,497	EPDNEW

RGD ID:

6854918

Promoter ID:

EPDNEW_H624

Type:

initiation region

Name:

GJB3_2

Description:

gap junction protein beta 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H622 EPDNEW_H623

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	34,782,376 - 34,782,436	EPDNEW

RGD ID:

6785642

Promoter ID:

HG_KWN:1926

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

ENST00000373366, OTTHUMT00000011558

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	35,019,366 - 35,019,866 (+)	MPROMDB

RGD ID:

6785643

Promoter ID:

HG_KWN:1927

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

UC001BXZ.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	35,021,716 - 35,022,216 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	GJB3	COSMIC
Ensembl Genes	ENSG00000188910	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000373362	ENTREZGENE
	ENST00000373362.3	UniProtKB/Swiss-Prot
	ENST00000373366	ENTREZGENE
	ENST00000373366.3	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.1440.80	UniProtKB/Swiss-Prot
GTEx	ENSG00000188910	GTEx
HGNC ID	HGNC:4285	ENTREZGENE
Human Proteome Map	GJB3	Human Proteome Map
InterPro	Connexin	UniProtKB/Swiss-Prot
	Connexin31	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:2707	UniProtKB/Swiss-Prot
NCBI Gene	2707	ENTREZGENE
OMIM	603324	OMIM
PANTHER	PTHR11984	UniProtKB/Swiss-Prot
	PTHR11984:SF65	UniProtKB/Swiss-Prot
Pfam	Connexin	UniProtKB/Swiss-Prot
PharmGKB	PA28696	PharmGKB
PRINTS	CONNEXIN	UniProtKB/Swiss-Prot
	CONNEXINB3	UniProtKB/Swiss-Prot
PROSITE	CONNEXINS_1	UniProtKB/Swiss-Prot
	CONNEXINS_2	UniProtKB/Swiss-Prot
SMART	CNX	UniProtKB/Swiss-Prot
	Connexin_CCC	UniProtKB/Swiss-Prot
UniProt	A0A654ICK0	ENTREZGENE, UniProtKB/TrEMBL
	A1YRJ5	ENTREZGENE, UniProtKB/TrEMBL
	B2R790	ENTREZGENE
	CXB3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q2TAZ8	ENTREZGENE
UniProt Secondary	B2R790	UniProtKB/Swiss-Prot
	Q2TAZ8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-16	GJB3	gap junction protein beta 3	EKV	erythrokeratodermia variabilis	Data merged from RGD:1345242	737654	PROVISIONAL
2015-11-17	GJB3	gap junction protein beta 3	GJB3	gap junction protein, beta 3, 31kDa	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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