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Gene: PLXNB3 (plexin B3) Homo sapiens

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Symbol:

PLXNB3

Name:

plexin B3

RGD ID:

1350171

HGNC Page

HGNC:9105

Description:

Enables cell-cell adhesion mediator activity; protein domain specific binding activity; and semaphorin receptor activity. Involved in several processes, including homophilic cell adhesion via plasma membrane adhesion molecules; negative regulation of GTPase activity; and positive regulation of endothelial cell proliferation. Located in cell surface.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ76953; PLEXB3; plexin 6; plexin-B3; PLEXR; PLXN6

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):	Plxnb3 (plexin B3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Plxnb3 (plexin B3)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Plxnb3 (plexin B3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PLXNB3 (plexin B3)	NCBI	Ortholog
Canis lupus familiaris (dog):	PLXNB3 (plexin B3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Plxnb3 (plexin B3)	NCBI	Ortholog
Sus scrofa (pig):	PLXNB3 (plexin B3)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PLXNB3 (plexin B3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Plxnb3 (plexin B3)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Plxna2 (plexin A2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Plxnb2 (plexin B2)	HGNC	OrthoMCL
Mus musculus (house mouse):	Plxna4 (plexin A4)	HGNC	OrthoMCL
Mus musculus (house mouse):	Plxnb1 (plexin B1)	HGNC	OrthoMCL
Mus musculus (house mouse):	Plxnd1 (plexin D1)	HGNC	OrthoMCL
Mus musculus (house mouse):	Plxna1 (plexin A1)	HGNC	OrthoMCL
Mus musculus (house mouse):	Plxna3 (plexin A3)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Plxnb3 (plexin B3)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Plxnb3 (plexin B3)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	plxnb3 (plexin B3)	Alliance	DIOPT (Hieranoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	PlexB	Alliance	DIOPT (Hieranoid\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	plxnb3.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	plxnb3	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	X	153,764,249 - 153,779,341 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	153,764,196 - 153,779,346 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	153,029,704 - 153,044,796 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	152,682,905 - 152,697,989 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	152,550,557 - 152,565,642	NCBI
Celera	X	153,263,333 - 153,278,483 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	141,686,716 - 141,701,865 (+)	NCBI		HuRef
CHM1_1	X	152,904,061 - 152,919,212 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	152,037,914 - 152,053,006 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLXNB3	Human	adrenoleukodystrophy		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: Adrenoleukodystrophy	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	adrenoleukodystrophy		IAGP	RGD:14710872\|RGD:156439261\|RGD:156447570	8554872	ClinVar Annotator: match by term: Adrenoleukodystrophy	ClinVar	PMID:28492532
PLXNB3	Human	adrenoleukodystrophy		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: Adrenoleukodystrophy	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	autistic disorder		IAGP	RGD:14351525	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311
PLXNB3	Human	autosomal hemophilia A		IAGP	RGD:408387586	8554872	ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	ClinVar	PMID:31690835
PLXNB3	Human	Barth syndrome		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	Barth syndrome		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	cerebral creatine deficiency syndrome 1		IAGP	RGD:26898679	8554872	ClinVar Annotator: match by term: Creatine transporter deficiency	ClinVar	PMID:18047645\|PMID:22659343\|PMID:28492532
PLXNB3	Human	cerebral creatine deficiency syndrome 1		IAGP	RGD:13818653	8554872	ClinVar Annotator: match by term: Creatine transporter deficiency	ClinVar	PMID:15351775\|PMID:15689435\|PMID:16080119\|PMID:17088400\|PMID:17172942\|PMID:18047645\|PMID:22578097\|PMID:22659343\|PMID:23220634\|PMID:26930212\|PMID:28492532
PLXNB3	Human	cerebral creatine deficiency syndrome 1		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: Creatine transporter deficiency	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	cerebral creatine deficiency syndrome 1		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: Creatine transporter deficiency	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	Chromosome Xq28 Duplication Syndrome		IAGP	RGD:405701680	8554872	ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome	ClinVar
PLXNB3	Human	congenital disorder of glycosylation Iy		IAGP	RGD:40903587	8554872	ClinVar Annotator: match by term: SSR4-congenital disorder of glycosylation	ClinVar
PLXNB3	Human	deafness, dystonia, and cerebral hypomyelination		IAGP	RGD:329848861	8554872	ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	ClinVar	PMID:25741868
PLXNB3	Human	dyskeratosis congenita		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: Dyskeratosis congenita	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	dyskeratosis congenita		IAGP	RGD:156436369	8554872	ClinVar Annotator: match by term: Dyskeratosis congenita	ClinVar	PMID:18177777\|PMID:28492532
PLXNB3	Human	Emery-Dreifuss muscular dystrophy		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	Emery-Dreifuss muscular dystrophy		IAGP	RGD:14713347\|RGD:26906776	8554872	ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	ClinVar	PMID:28492532
PLXNB3	Human	Emery-Dreifuss muscular dystrophy		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	factor VIII deficiency		IAGP	RGD:408387586	8554872	ClinVar Annotator: match by term: Factor 8 deficiency, congenital	ClinVar	PMID:31690835
PLXNB3	Human	favism		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	favism		IAGP	RGD:156436369	8554872	ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency	ClinVar	PMID:18177777\|PMID:28492532
PLXNB3	Human	immunodeficiency 33		IAGP	RGD:152981171	8554872	ClinVar Annotator: match by term: Immunodeficiency 33	ClinVar	PMID:25741868
PLXNB3	Human	Neurodevelopmental Disorders		IAGP	RGD:40814624	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
PLXNB3	Human	paraplegia		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	paraplegia		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	paraplegia		IAGP	RGD:156441137	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:23184456\|PMID:28492532
PLXNB3	Human	periventricular nodular heterotopia		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	periventricular nodular heterotopia		IAGP	RGD:151730447	8554872	ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant	ClinVar	PMID:28492532
PLXNB3	Human	severe congenital encephalopathy due to MECP2 mutation		IAGP	RGD:26896983	8554872	ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	ClinVar	PMID:15351775\|PMID:15689435\|PMID:16080119\|PMID:17088400\|PMID:17172942\|PMID:22578097\|PMID:23220634\|PMID:26930212\|PMID:28492532
PLXNB3	Human	severe congenital encephalopathy due to MECP2 mutation		IAGP	RGD:13818653	8554872	ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	ClinVar	PMID:15351775\|PMID:15689435\|PMID:16080119\|PMID:17088400\|PMID:17172942\|PMID:18047645\|PMID:22578097\|PMID:22659343\|PMID:23220634\|PMID:26930212\|PMID:28492532
PLXNB3	Human	severe congenital encephalopathy due to MECP2 mutation		IAGP	RGD:151811857	8554872	ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	ClinVar	PMID:12180070\|PMID:15841480\|PMID:18562171\|PMID:23810759\|PMID:28492532
PLXNB3	Human	Splenomegaly		IAGP	RGD:152981171	8554872	ClinVar Annotator: match by term: Splenomegaly	ClinVar	PMID:25741868
PLXNB3	Human	syndromic X-linked intellectual disability Lubs type		IAGP	RGD:14399337	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:25741868
PLXNB3	Human	syndromic X-linked intellectual disability Lubs type		IAGP	RGD:151663335	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:22679399\|PMID:27247049\|PMID:27761913\|PMID:28257338\|PMID:29141583\|PMID:30788845
PLXNB3	Human	syndromic X-linked intellectual disability Lubs type		IAGP	RGD:598124002	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLXNB3	Human	1,2-dichloroethane	decreases expression	ISO	RGD:1623021	6480464	ethylene dichloride results in decreased expression of PLXNB3 mRNA	CTD	PMID:28960355
PLXNB3	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1623021	6480464	1,2-Dimethylhydrazine results in increased expression of PLXNB3 mRNA	CTD	PMID:22206623
PLXNB3	Human	17beta-estradiol	multiple interactions	ISO	RGD:1560615	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of PLXNB3 mRNA	CTD	PMID:32741896
PLXNB3	Human	17beta-estradiol 3-benzoate	multiple interactions	ISO	RGD:1560615	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of PLXNB3 mRNA	CTD	PMID:32741896
PLXNB3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1623021	6480464	Tetrachlorodibenzodioxin affects the expression of PLXNB3 mRNA	CTD	PMID:21570461
PLXNB3	Human	6-propyl-2-thiouracil	decreases expression	ISO	RGD:1560615	6480464	Propylthiouracil results in decreased expression of PLXNB3 mRNA	CTD	PMID:24780913
PLXNB3	Human	acrylamide	decreases expression	ISO	RGD:1623021	6480464	Acrylamide results in decreased expression of PLXNB3 mRNA	CTD	PMID:29261810
PLXNB3	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of PLXNB3 mRNA	CTD	PMID:32763439
PLXNB3	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of PLXNB3 mRNA	CTD	PMID:32234424
PLXNB3	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of PLXNB3 polyA tail	CTD	PMID:30157460
PLXNB3	Human	all-trans-retinoic acid	multiple interactions	ISO	RGD:1623021	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in increased expression of PLXNB3 mRNA	CTD	PMID:36189433
PLXNB3	Human	all-trans-retinoic acid	increases expression	ISO	RGD:1623021	6480464	Tretinoin results in increased expression of PLXNB3 mRNA	CTD	PMID:36189433
PLXNB3	Human	amitrole	decreases expression	ISO	RGD:1560615	6480464	Amitrole results in decreased expression of PLXNB3 mRNA	CTD	PMID:38685447
PLXNB3	Human	arsenite(3-)	decreases expression	ISO	RGD:1623021	6480464	arsenite results in decreased expression of PLXNB3 mRNA	CTD	PMID:18929588
PLXNB3	Human	arsenite(3-)	multiple interactions	ISO	RGD:1623021	6480464	TRP53 protein affects the reaction [arsenite results in decreased expression of PLXNB3 mRNA]	CTD	PMID:18929588
PLXNB3	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of PLXNB3 3' UTR	CTD	PMID:27901495
PLXNB3	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of PLXNB3 mRNA	CTD	PMID:32234424
PLXNB3	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of PLXNB3 5' UTR; Benzo(a)pyrene affects the methylation of PLXNB3 intron; more ...	CTD	PMID:27901495\|PMID:30157460
PLXNB3	Human	bisphenol A	affects expression	ISO	RGD:1560615	6480464	bisphenol A affects the expression of PLXNB3 mRNA	CTD	PMID:25181051
PLXNB3	Human	bisphenol A	decreases expression	ISO	RGD:1560615	6480464	bisphenol A results in decreased expression of PLXNB3 mRNA	CTD	PMID:34947998\|PMID:34973380
PLXNB3	Human	cadmium dichloride	increases expression	ISO	RGD:1560615	6480464	Cadmium Chloride results in increased expression of PLXNB3 mRNA	CTD	PMID:33453195
PLXNB3	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of PLXNB3 mRNA	CTD	PMID:26485663
PLXNB3	Human	cannabidiol	decreases expression	EXP		6480464	Cannabidiol results in decreased expression of PLXNB3 mRNA	CTD	PMID:27918106
PLXNB3	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of PLXNB3 mRNA	CTD	PMID:27392435
PLXNB3	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of PLXNB3 mRNA	CTD	PMID:27392435
PLXNB3	Human	copper atom	increases expression	ISO	RGD:1560615	6480464	Copper deficiency results in increased expression of PLXNB3 mRNA	CTD	PMID:26033743
PLXNB3	Human	copper atom	multiple interactions	EXP		6480464	[Chelating Agents binds to Copper] which results in decreased expression of PLXNB3 mRNA	CTD	PMID:31162603
PLXNB3	Human	copper(0)	increases expression	ISO	RGD:1560615	6480464	Copper deficiency results in increased expression of PLXNB3 mRNA	CTD	PMID:26033743
PLXNB3	Human	copper(0)	multiple interactions	EXP		6480464	[Chelating Agents binds to Copper] which results in decreased expression of PLXNB3 mRNA	CTD	PMID:31162603
PLXNB3	Human	Cuprizon	decreases expression	ISO	RGD:1560615	6480464	Cuprizone results in decreased expression of PLXNB3 mRNA	CTD	PMID:26577399\|PMID:27523638
PLXNB3	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of PLXNB3 mRNA	CTD	PMID:37042841
PLXNB3	Human	glyphosate	increases expression	ISO	RGD:1623021	6480464	Glyphosate results in increased expression of PLXNB3 mRNA	CTD	PMID:35897073
PLXNB3	Human	hydrogen peroxide	increases expression	EXP		6480464	Hydrogen Peroxide results in increased expression of PLXNB3 mRNA	CTD	PMID:32949572
PLXNB3	Human	mercury atom	decreases expression	ISO	RGD:1623021	6480464	Mercury analog results in decreased expression of PLXNB3 mRNA	CTD	PMID:25056781
PLXNB3	Human	mercury(0)	decreases expression	ISO	RGD:1623021	6480464	Mercury analog results in decreased expression of PLXNB3 mRNA	CTD	PMID:25056781
PLXNB3	Human	methylmercury chloride	decreases expression	ISO	RGD:1623021	6480464	methylmercuric chloride results in decreased expression of PLXNB3 mRNA	CTD	PMID:29261810
PLXNB3	Human	mono(2-ethylhexyl) phthalate	increases expression	ISO	RGD:1623021	6480464	mono-(2-ethylhexyl)phthalate results in increased expression of PLXNB3 mRNA	CTD	PMID:36189433
PLXNB3	Human	mono(2-ethylhexyl) phthalate	multiple interactions	ISO	RGD:1623021	6480464	[mono-(2-ethylhexyl)phthalate co-treated with Tretinoin] results in increased expression of PLXNB3 mRNA	CTD	PMID:36189433
PLXNB3	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of PLXNB3 mRNA	CTD	PMID:38832940
PLXNB3	Human	oxybenzone	decreases expression	ISO	RGD:1623021	6480464	oxybenzone results in decreased expression of PLXNB3 mRNA	CTD	PMID:39343157
PLXNB3	Human	propanal	increases expression	EXP		6480464	propionaldehyde results in increased expression of PLXNB3 mRNA	CTD	PMID:26079696
PLXNB3	Human	S-nitrosoglutathione	increases expression	EXP		6480464	S-Nitrosoglutathione results in increased expression of PLXNB3 mRNA	CTD	PMID:38825487
PLXNB3	Human	sodium arsenite	increases expression	ISO	RGD:1623021	6480464	sodium arsenite results in increased expression of PLXNB3 mRNA	CTD	PMID:36209798
PLXNB3	Human	testosterone	multiple interactions	ISO	RGD:1560615	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of PLXNB3 mRNA	CTD	PMID:32741896
PLXNB3	Human	triclosan	increases expression	EXP		6480464	Triclosan results in increased expression of PLXNB3 mRNA	CTD	PMID:30510588
PLXNB3	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of PLXNB3 mRNA	CTD	PMID:37042841
PLXNB3	Human	triptonide	increases expression	ISO	RGD:1623021	6480464	triptonide results in increased expression of PLXNB3 mRNA	CTD	PMID:33045310
PLXNB3	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PLXNB3 gene	CTD	PMID:29154799
PLXNB3	Human	valproic acid	decreases expression	ISO	RGD:1623021	6480464	Valproic Acid results in decreased expression of PLXNB3 mRNA	CTD	PMID:29261810

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)
PLXNB3	Human	cell chemotaxis	involved_in	IDA		150520179	PMID:15218527	UniProt	PMID:15218527
PLXNB3	Human	homophilic cell adhesion via plasma membrane adhesion molecules	involved_in	IDA		150520179	PMID:16122393	ParkinsonsUK-UCL	PMID:16122393
PLXNB3	Human	negative regulation of cell adhesion	involved_in	IDA		150520179	PMID:15218527	UniProt	PMID:15218527
PLXNB3	Human	negative regulation of cell adhesion	involved_in	IBA	PANTHER:PTN001861955\|UniProtKB:O43157\|UniProtKB:Q9ULL4	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	negative regulation of cell migration	involved_in	IEA	UniProtKB:D3ZLH5\|ensembl:ENSRNOP00000072671	150520179		Ensembl	GO_REF:0000107
PLXNB3	Human	negative regulation of cell migration	involved_in	IBA	PANTHER:PTN008580332\|RGD:1560615\|UniProtKB:Q9ULL4	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	negative regulation of cell migration	involved_in	IMP		150520179	PMID:20696765	UniProt	PMID:20696765
PLXNB3	Human	negative regulation of GTPase activity	involved_in	IMP		150520179	PMID:20696765	UniProt	PMID:20696765
PLXNB3	Human	negative regulation of lamellipodium assembly	involved_in	IEA	UniProtKB:D3ZLH5\|ensembl:ENSRNOP00000072671	150520179		Ensembl	GO_REF:0000107
PLXNB3	Human	negative regulation of lamellipodium assembly	involved_in	ISS	UniProtKB:D3ZLH5	150520179		UniProt	GO_REF:0000024
PLXNB3	Human	nervous system development	involved_in	IEA	UniProtKB-KW:KW-0524	150520179		UniProt	GO_REF:0000043
PLXNB3	Human	positive chemotaxis	involved_in	IDA		150520179	PMID:15218527	UniProt	PMID:15218527
PLXNB3	Human	positive regulation of axonogenesis	involved_in	IBA	MGI:2154238\|MGI:2154239\|PANTHER:PTN001861955	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	positive regulation of endothelial cell proliferation	involved_in	IMP		150520179	PMID:19850054	UniProt	PMID:19850054
PLXNB3	Human	positive regulation of neuron projection development	involved_in	IDA		150520179	PMID:16122393	ParkinsonsUK-UCL	PMID:16122393
PLXNB3	Human	regulation of cell shape	involved_in	IBA	MGI:2154238\|MGI:2154239\|PANTHER:PTN001861955\|UniProtKB:O43157	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	semaphorin-plexin signaling pathway	involved_in	IEA	InterPro:IPR031148	150520179		InterPro	GO_REF:0000002
PLXNB3	Human	semaphorin-plexin signaling pathway	involved_in	IBA	FB:FBgn0025741\|MGI:107683\|MGI:107684\|MGI:107685\|MGI:2154238\|MGI:2154239\|MGI:2154244\|MGI:2179061\|PANTHER:PTN001098994\|RGD:1560615\|UniProtKB:O43157\|UniProtKB:Q9ULL4	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	semaphorin-plexin signaling pathway	involved_in	IEA	UniProtKB:D3ZLH5\|ensembl:ENSRNOP00000072671	150520179		Ensembl	GO_REF:0000107
PLXNB3	Human	semaphorin-plexin signaling pathway	involved_in	IDA		150520179	PMID:15218527	UniProt	PMID:15218527
PLXNB3	Human	synapse assembly	involved_in	IBA	MGI:2154238\|MGI:2154239\|MGI:2154244\|PANTHER:PTN001476678	150520179		GO_Central	GO_REF:0000033

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)
PLXNB3	Human	cell surface	located_in	IDA		150520179	PMID:16122393	ParkinsonsUK-UCL	PMID:16122393
PLXNB3	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
PLXNB3	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
PLXNB3	Human	plasma membrane	is_active_in	IBA	MGI:107684\|MGI:2154239\|MGI:2154244\|PANTHER:PTN001098994\|RGD:1310564\|UniProtKB:O15031\|UniProtKB:O43157\|WB:WBGene00004047	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
PLXNB3	Human	plasma membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-416698
PLXNB3	Human	semaphorin receptor complex	part_of	IBA	MGI:107685\|MGI:2154238\|PANTHER:PTN001098994\|UniProtKB:O43157	150520179		GO_Central	GO_REF:0000033

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)
PLXNB3	Human	cell-cell adhesion mediator activity	enables	IPI	UniProtKB:Q9ULL4	150520179	PMID:16122393	ParkinsonsUK-UCL	PMID:16122393
PLXNB3	Human	protein binding	enables	IPI	UniProtKB:Q99578\|UniProtKB:Q9ULL4	150520179	PMID:16122393	ParkinsonsUK-UCL	PMID:16122393
PLXNB3	Human	protein binding	enables	IPI	UniProtKB:P08581\|UniProtKB:Q04912	150520179	PMID:15184888	IntAct	PMID:15184888
PLXNB3	Human	protein binding	enables	IPI	UniProtKB:Q16658	150520179	PMID:21706053	IntAct	PMID:21706053
PLXNB3	Human	protein domain specific binding	enables	IPI	UniProtKB:Q62217	150520179	PMID:15218527	UniProt	PMID:15218527
PLXNB3	Human	Rho GDP-dissociation inhibitor binding	enables	IEA	UniProtKB:Q9QY40\|ensembl:ENSMUSP00000002079	150520179		Ensembl	GO_REF:0000107
PLXNB3	Human	semaphorin receptor activity	enables	IDA		150520179	PMID:15218527	UniProt	PMID:15218527
PLXNB3	Human	semaphorin receptor activity	enables	IBA	MGI:107683\|MGI:107684\|MGI:107685\|MGI:2154238\|MGI:2154239\|MGI:2154244\|MGI:2179061\|PANTHER:PTN001098994\|UniProtKB:O43157\|UniProtKB:Q9ULL4\|WB:WBGene00004047\|WB:WBGene00004048	150520179		GO_Central	GO_REF:0000033
PLXNB3	Human	semaphorin receptor activity	enables	IEA	InterPro:IPR013548\|InterPro:IPR031148\|InterPro:IPR046800	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLXNB3	Human	Autism		IAGP	RGD:14351525	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106\|PMID:30208311
PLXNB3	Human	Decreased circulating antibody concentration		IAGP	RGD:152981171	8554872	ClinVar Annotator: match by term: Decreased antibody level in blood	ClinVar	PMID:25741868
PLXNB3	Human	Spastic paraplegia		IAGP	RGD:405877913	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:10480214\|PMID:11379875\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:18177777\|PMID:18627054\|PMID:19396829\|PMID:19846429\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:28492532\|PMID:35384376\|PMID:9384614
PLXNB3	Human	Spastic paraplegia		IAGP	RGD:156439260	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:10480214\|PMID:11748843\|PMID:11968085\|PMID:16427346\|PMID:16601897\|PMID:16684786\|PMID:19396829\|PMID:19846429\|PMID:20730588\|PMID:22281021\|PMID:22382802\|PMID:23409742\|PMID:23660394\|PMID:24365856\|PMID:24962355\|PMID:26471271\|PMID:28492532\|PMID:29334594\|PMID:9384614
PLXNB3	Human	Spastic paraplegia		IAGP	RGD:156441137	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:23184456\|PMID:28492532
PLXNB3	Human	Splenomegaly		IAGP	RGD:152981171	8554872	ClinVar Annotator: match by term: Splenomegaly	ClinVar	PMID:25741868

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates.	Tamagnone L, etal., Cell 1999 Oct 1;99(1):71-80.

PMID:8661155	PMID:10574462	PMID:12123608	PMID:12183458	PMID:12421765	PMID:15184888	PMID:15218527	PMID:15790807	PMID:16122393	PMID:17033634	PMID:19329067	PMID:19850054
PMID:20696765	PMID:21706053	PMID:21873635	PMID:29676528	PMID:34267322	PMID:35914814	PMID:35981243	PMID:36741230	PMID:36857181

PLXNB3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	153,764,249 - 153,779,341 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	153,764,196 - 153,779,346 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	153,029,704 - 153,044,796 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	152,682,905 - 152,697,989 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	152,550,557 - 152,565,642	NCBI
Celera	X	153,263,333 - 153,278,483 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	141,686,716 - 141,701,865 (+)	NCBI		HuRef
CHM1_1	X	152,904,061 - 152,919,212 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	152,037,914 - 152,053,006 (+)	NCBI		T2T-CHM13v2.0

Plxnb3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	72,800,564 - 72,816,116 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	72,800,696 - 72,816,120 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	73,756,556 - 73,772,510 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	73,757,090 - 73,772,514 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	71,002,442 - 71,017,849 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	70,009,810 - 70,025,230 (+)	NCBI		MGSCv36	mm8
Celera	X	65,009,376 - 65,024,783 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	37.4	NCBI

Plxnb3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	156,645,505 - 156,660,011 (+)	NCBI		GRCr8
mRatBN7.2	X	151,493,832 - 151,508,688 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	151,494,207 - 151,508,674 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	153,636,711 - 153,649,852 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	157,199,937 - 157,213,082 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	154,871,765 - 154,884,906 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	157,015,297 - 157,030,147 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	157,015,305 - 157,028,434 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	152,764,184 - 152,779,039 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	159,681,646 - 159,694,783 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	1	136,380,863 - 136,394,000 (-)	NCBI		Celera
Cytogenetic Map	X	q37	NCBI

Plxnb3
(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_004955580	484,805 - 495,445 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955580	482,602 - 495,628 (+)	NCBI	ChiLan1.0	ChiLan1.0

PLXNB3
(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	X	153,804,772 - 153,820,041 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	153,808,363 - 153,823,646 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	143,314,794 - 143,330,066 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	153,200,971 - 153,215,909 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	153,200,971 - 153,215,909 (+)	Ensembl	panpan1.1		panPan2

PLXNB3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	121,577,564 - 121,593,294 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	121,580,073 - 121,593,287 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	106,906,928 - 106,922,587 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	124,719,222 - 124,734,893 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	124,719,296 - 124,734,838 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	120,488,510 - 120,504,170 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	123,003,521 - 123,019,170 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	122,765,705 - 122,781,365 (+)	NCBI		UU_Cfam_GSD_1.0

Plxnb3
(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	X	118,905,069 - 118,921,958 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936809	644,049 - 659,859 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936809	645,569 - 659,850 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PLXNB3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	124,509,526 - 124,522,767 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	124,507,953 - 124,522,780 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	142,072,571 - 142,087,361 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PLXNB3
(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	X	128,191,297 - 128,207,456 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	128,191,332 - 128,206,194 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	66,058,633 - 66,073,613 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Plxnb3
(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_004624946	450,047 - 460,718 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624946	447,981 - 460,880 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PLXNB3
244 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	copy number gain	See cases [RCV000051857]	Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11	pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	copy number loss	Orofacial cleft 2 [RCV002481175]	Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13	association
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	copy number gain	See cases [RCV000051861]	Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	copy number gain	See cases [RCV000134979]	Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	copy number gain	See cases [RCV000142054]	Chr1:204764914..225408698 [GRCh38] Chr1:204734042..225596400 [GRCh37] Chr1:203000665..223663023 [NCBI36] Chr1:1q32.1-42.12	pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	copy number gain	See cases [RCV000143727]	Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44	pathogenic
GRCh38/hg38 1q41(chr1:221979950-223007060)x3	copy number gain	See cases [RCV000137718]	Chr1:221979950..223007060 [GRCh38] Chr1:222153292..223180402 [GRCh37] Chr1:220219915..221247025 [NCBI36] Chr1:1q41	uncertain significance
Single allele	deletion	Usher syndrome [RCV000505151]	Chr1:216066818..222607612 [GRCh38] Chr1:216240159..222780953 [GRCh37] Chr1:1q41	likely pathogenic
GRCh38/hg38 1q41(chr1:220673535-223683512)x1	copy number loss	See cases [RCV000135795]	Chr1:220673535..223683512 [GRCh38] Chr1:220846877..223871214 [GRCh37] Chr1:218913500..221937837 [NCBI36] Chr1:1q41	pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	copy number gain	See cases [RCV000050981]	Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	4084
Count of miRNA genes:	969
Interacting mature miRNAs:	1196
Transcripts:	ENST00000361971, ENST00000411613, ENST00000448847, ENST00000455214, ENST00000469190, ENST00000472415, ENST00000482654, ENST00000485980, ENST00000538282, ENST00000538543, ENST00000538776, ENST00000538966
Prediction methods:	Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597192140	GWAS1288214_H	pyruvate measurement QTL GWAS1288214 (human)		2e-16	pyruvate measurement	blood pyruvate level (CMO:0002422)	X	153764329	153764330	Human
596974712	GWAS1094231_H	pyruvate measurement QTL GWAS1094231 (human)		2e-16	pyruvate measurement		X	153764329	153764330	Human

A008P20

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,041,066 - 153,041,401	UniSTS	GRCh37
Build 36	X	152,694,260 - 152,694,595	RGD	NCBI36
Celera	X	153,274,748 - 153,275,083	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,698,131 - 141,698,466	UniSTS
GeneMap99-GB4 RH Map	X	352.15	UniSTS

A004O03

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,044,678 - 153,044,777	UniSTS	GRCh37
Build 36	X	152,697,872 - 152,697,971	RGD	NCBI36
Celera	X	153,278,360 - 153,278,459	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,701,742 - 141,701,841	UniSTS
GeneMap99-GB4 RH Map	X	350.52	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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2430	2787	2237	4974	1710	2331	4	615	1759	456	2270	7091	6289	50	3734	1	835	1737	1606	175	1


RefSeq Transcripts	NG_013255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001163257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005393	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB033032	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF149019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK295894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296538	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304705	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK307894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY927551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459516	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U52111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000361971 ⟹ ENSP00000355378

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,764,249 - 153,779,341 (+)	Ensembl

Ensembl Acc Id:

ENST00000411613 ⟹ ENSP00000391650

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,774,759 - 153,776,956 (+)	Ensembl

Ensembl Acc Id:

ENST00000448847 ⟹ ENSP00000412454

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,777,517 - 153,778,301 (+)	Ensembl

Ensembl Acc Id:

ENST00000455214 ⟹ ENSP00000396048

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,775,976 - 153,777,032 (+)	Ensembl

Ensembl Acc Id:

ENST00000469190

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,778,191 - 153,779,340 (+)	Ensembl

Ensembl Acc Id:

ENST00000472415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,778,382 - 153,779,340 (+)	Ensembl

Ensembl Acc Id:

ENST00000482654

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,774,929 - 153,776,399 (+)	Ensembl

Ensembl Acc Id:

ENST00000485980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,777,242 - 153,778,326 (+)	Ensembl

Ensembl Acc Id:

ENST00000538966 ⟹ ENSP00000442736

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	153,764,196 - 153,779,346 (+)	Ensembl

RefSeq Acc Id:

NM_001163257 ⟹ NP_001156729

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,764,249 - 153,779,341 (+)	NCBI
GRCh37	X	153,029,651 - 153,044,801 (+)	RGD
GRCh37	X	153,029,651 - 153,044,801 (+)	NCBI
Celera	X	153,263,333 - 153,278,483 (+)	RGD
HuRef	X	141,686,716 - 141,701,865 (+)	ENTREZGENE
CHM1_1	X	152,904,061 - 152,919,212 (+)	NCBI
T2T-CHM13v2.0	X	152,037,914 - 152,053,006 (+)	NCBI

Sequence:

show sequence

GAGACGTGCTCCTGGCACCGCCAGCTGCTACTTGGCCCTCGCCGGTGGCCCACCAGGACAATGCCCCCCCGCAGCCATCTCATGCCCATCGCCACTGCCCTGGGGCAGCTGAACTGAGCGTATGTGCC
ACGCCGCCCAGGAGACCCCTCTGCTGCACCACTTCATGCACCCCCGCTGCCTTGCCCCAGTGCTTCCTCGCCCTGGAGCTGGGCGCCAGCATGGAGCTCACCCCTGCCTCTTCGCTGACTTGCTCCTT
GCTCAGCCCGCGGCTGCCTGGCTCTTTCCCCCAGCTGCGGAGGGTTCCTCCTTGCAGCCGGCCCTGGCTGCCCAAGGCCCCCGTGATGGCTCGCTGGCCTCCCTTCGGCCTCTGCCTCCTCCTGCTGC
TGCTGTCCCCACCGCCACTGCCCTTGACAGGGGCCCATCGCTTCTCCGCACCTAATACCACTCTCAACCACTTGGCACTGGCACCTGGCCGAGGCACACTCTATGTCGGCGCAGTGAACCGCCTCTTC
CAGCTCAGCCCCGAGCTGCAGCTCGAGGCCGTGGCTGTCACTGGCCCTGTAATCGACAGCCCTGACTGCGTGCCCTTCCGTGACCCAGCCGAGTGCCCACAGGCCCAGCTCACTGACAATGCCAACCA
GCTGCTGCTGGTGAGCAGCCGCGCCCAGGAGCTGGTGGCCTGCGGGCAGGTGCGGCAGGGCGTGTGTGAGACACGGCGCCTTGGGGATGTGGCCGAGGTGCTGTACCAGGCTGAGGACCCTGGTGACG
GGCAGTTTGTGGCTGCCAATACCCCGGGAGTGGCAACGGTGGGGCTGGTGGTGCCCTTGCCCGGCCGGGACCTCCTGCTTGTGGCCAGAGGCCTGGCGGGCAAGCTGTCGGCAGGGGTGCCACCCCTG
GCCATCCGCCAGCTGGCCGGGTCTCAGCCCTTCTCCAGCGAGGGCCTGGGCCGCCTGGTGGTGGGCGACTTCTCCGACTACAACAACAGCTACGTCGGGGCCTTTGCCGACGCCCGCTCCGCCTACTT
CGTGTTCCGCCGCCGCGGGGCCCGGGCCCAGGCTGAGTACCGCTCCTACGTGGCCCGCGTCTGCCTGGGGGACACCAACCTGTACTCCTACGTGGAGGTCCCCCTCGCCTGCCAGGGCCAGGGCCTCA
TCCAGGCCGCCTTCCTTGCCCCGGGCACCTTGCTAGGGGTGTTTGCCGCGGGCCCAAGGGGCACCCAGGCGGCGCTCTGTGCCTTCCCCATGGTGGAGCTGGGTGCCAGCATGGAGCAGGCCCGGAGA
CTCTGCTACACGGCGGGCGGCCGGGGCCCCAGCGGCGCAGAGGAAGCCACCGTGGAGTACGGCGTCACGTCGCGCTGCGTCACCCTGCCCCTTGATTCCCCCGAGTCGTACCCCTGTGGCGACGAGCA
CACCCCCAGCCCCATTGCTGGCCGCCAGCCCCTGGAGGTCCAGCCTCTGCTGAAGCTCGGGCAGCCGGTCAGCGCCGTGGCAGCTCTCCAGGCAGATGGGCACATGATAGCCTTCCTGGGGGACACCC
AGGGCCAGCTGTACAAGGTCTTTCTCCACGGCTCCCAGGGCCAGGTTTACCACTCCCAGCAAGTGGGGCCTCCAGGCTCAGCCATCAGCCCAGACCTGCTGCTGGACAGCAGTGGCAGTCACCTCTAT
GTCCTGACTGCCCACCAGGTGGACCGGATACCTGTGGCAGCCTGCCCCCAGTTCCCTGACTGTGCCAGCTGCCTCCAGGCCCAGGACCCGCTGTGTGGCTGGTGTGTCCTCCAGGGCAGGTGTACCCG
GAAGGGCCAGTGCGGGCGGGCAGGCCAGCTGAACCAGTGGCTGTGGAGTTATGAGGAGGACAGCCACTGCCTGCACATCCAGAGCCTGCTGCCGGGCCACCACCCCCGCCAGGAGCAGGGCCAGGTCA
CTTTGTCTGTCCCCCGGCTGCCCATCCTGGATGCAGATGAATACTTCCATTGTGCGTTCGGGGACTATGACAGCTTGGCTCATGTGGAAGGGCCCCACGTGGCCTGTGTCACCCCTCCCCAAGACCAG
GTGCCACTTAACCCTCCAGGCACAGACCACGTCACTGTGCCCCTGGCCCTGATGTTCGAGGACGTGACTGTGGCTGCCACCAACTTCTCCTTTTATGACTGCAGTGCCGTCCAGGCCTTGGAGGCGGC
TGCCCCGTGTCGCGCTTGCGTGGGCAGCATCTGGCGGTGTCACTGGTGCCCGCAGAGTAGCCACTGCGTGTACGGAGAGCACTGCCCAGAGGGCGAGAGGACCATCTACAGCGCCCAGGAGGTGGACA
TCCAGGTGCGTGGCCCAGGGGCTTGCCCACAGGTCGAAGGCCTGGCAGGTCCCCACCTGGTGCCTGTGGGCTGGGAGAGCCATTTGGCCCTACGCGTGCGGAACCTTCAACATTTCCGAGGCCTGCCT
GCCTCCTTCCACTGCTGGCTGGAGCTGCCTGGAGAACTTCGGGGACTGCCGGCCACCCTGGAGGAGACAGCAGGGGATTCAGGCCTCATCCACTGCCAGGCCCACCAGTTTTATCCCTCCATGTCCCA
GCGGGAGCTCCCAGTGCCCATCTACGTCACCCAGGGTGAAGCCCAGAGGCTGGACAACACCCATGCTCTTTATGTGATCCTGTACGACTGCGCCATGGGCCACCCGGACTGCAGCCACTGCCAAGCGG
CCAACAGGAGCCTGGGCTGCCTGTGGTGTGCTGACGGCCAGCCTGCCTGTCGCTATGGGCCCTTGTGCCCGCCGGGGGCTGTGGAGCTGCTGTGTCCTGCGCCCAGCATTGATGCAGTCGAGCCCCTG
ACCGGTCCCCCTGAGGGAGGCTTGGCCCTCACCATCCTGGGCTCCAACCTGGGCCGGGCCTTCGCCGATGTGCAGTACGCCGTGAGCGTGGCCAGCCGGCCCTGCAACCCTGAGCCCTCTCTCTACCG
CACGTCGGCCCGGATTGTGTGTGTGACATCTCCTGCCCCCAATGGCACCACTGGGCCCGTCCGGGTGGCCATTAAGAGCCAGCCACCAGGCATCTCAAGCCAGCACTTCACCTACCAGGACCCTGTCC
TGCTGAGCCTGAGTCCTCGCTGGGGCCCCCAGGCAGGGGGCACCCAGCTCACCATCCGAGGTCAGCACCTCCAGACAGGTGGCAACACCAGTGCCTTCGTGGGTGGCCAACCCTGTCCCATCCTGGAG
CCAGTGTGTCCGGAGGCCATCGTGTGCCGTACCAGGCCCCAGGCTGCCCCAGGAGAAGCAGCGGTCCTTGTGGTCTTTGGCCATGCCCAGCGCACACTGCTCGCCAGCCCCTTCCGCTACACCGCCAA
CCCCCAGCTTGTAGCGGCGGAGCCCAGTGCCAGCTTCCGGGGGGGTGGGCGACTGATCCGTGTCAGGGGCACCGGCCTAGACGTGGTGCAGCGGCCCCTACTGTCTGTGTGGCTGGAGGCTGACGCAG
AGGTGCAGGCTTCCAGGGCCCAGCCCCAGGACCCACAGCCAAGGAGGAGCTGTGGAGCCCCTGCTGCGGACCCCCAGGCTTGTATCCAGCTCGGTGGGGGGCTGCTGCAGTGCTCCACCGTCTGCTCC
GTCAACTCGTCCAGCCTCCTCCTGTGCCGGAGCCCTGCTGTACCAGACAGAGCCCACCCGCAGCGGGTCTTCTTCACCCTAGACAACGTGCAAGTGGACTTCGCCAGTGCCAGTGGGGGCCAGGGCTT
CCTGTACCAGCCCAACCCCCGCCTGGCACCCCTCAGCCGCGAGGGGCCTGCCCGCCCCTACCGCCTCAAGCCAGGCCATGTCCTGGATGTGGAGGGCGAGGGCCTCAACCTGGGCATCAGCAAGGAGG
AGGTGCGCGTGCACATCGGCCGCGGCGAGTGCCTGGTGAAGACGCTCACGCGCACCCACCTGTACTGCGAGCCGCCTGCGCACGCCCCGCAGCCTGCCAATGGCTCCGGCCTGCCACAGTTCGTGGTG
CAGATGGGCAATGTGCAGCTGGCCCTGGGCCCTGTGCAGTACGAGGCTGAACCCCCGCTGTCTGCCTTTCCCGTGGAGGCCCAGGCAGGCGTGGGCATGGGTGCTGCAGTGCTGATTGCCGCCGTGCT
CCTCCTCACCCTCATGTACAGGCACAAGAGCAAGCAGGCCCTGCGGGACTACCAGAAGGTGCTAGTGCAGCTGGAGAGCCTGGAGACCGGCGTGGGAGACCAGTGCCGCAAGGAGTTCACAGACCTCA
TGACGGAGATGACCGACCTCAGCAGCGACCTGGAGGGCAGCGGGATCCCCTTCCTGGACTACCGCACCTACGCCGAGCGCGCCTTCTTCCCTGGCCATGGCGGTTGCCCGCTGCAGCCCAAGCCTGAG
GGGCCAGGGGAGGACGGCCACTGTGCCACTGTGCGCCAGGGCCTCACGCAGCTCTCCAACCTGCTCAACAGCAAGCTCTTCCTCCTCACGCTCATCCACACCCTGGAGGAGCAGCCCAGCTTTTCCCA
GAGGGATCGCTGCCATGTGGCTTCGCTGCTGTCGCTAGCGCTACACGGCAAGCTGGAGTACCTGACGGACATCATGAGGACCCTGCTGGGTGACCTGGCGGCCCATTACGTGCACAGGAACCCCAAGC
TCATGCTACGCAGGACAGAGACCATGGTGGAGAAACTGCTCACCAACTGGCTGTCCATCTGCCTGTACGCCTTCCTGAGGGAGGTGGCTGGTGAACCACTGTACATGCTCTTCCGGGCCATCCAGTAC
CAGGTGGACAAAGGCCCCGTGGACGCCGTGACAGGCAAGGCCAAACGGACCCTGAATGATAGCCGCTTGCTGCGGGAGGACGTGGAGTTCCAGCCCCTGACGCTGATGGTGCTGGTGGGGCCCGGGGC
TGGCGGGGCCGCAGGCAGCAGCGAGATGCAGCGCGTGCCAGCCCGGGTGCTCGACACGGACACCATCACCCAGGTCAAGGAGAAGGTGTTGGACCAAGTCTACAAGGGCACCCCCTTCTCCCAGAGGC
CCTCAGTGCATGCCCTAGACCTTGAGTGGCGCTCAGGCCTGGCTGGTCACCTGACCCTATCGGACGAAGACTTGACCTCCGTGACCCAAAACCACTGGAAGAGACTCAACACCTTGCAACACTACAAG
GTCCCAGATGGAGCAACAGTGGGGCTCGTCCCTCAGCTGCACCGTGGCAGCACCATCTCCCAGAGCCTGGCCCAGAGGTGCCCCTTGGGAGAGAACATACCCACGCTGGAGGATGGCGAGGAGGGGGG
GGTGTGCCTCTGGCACCTGGTGAAAGCCACCGAGGAGCCAGAAGGGGCCAAGGTGCGGTGCAGCAGCCTGCGGGAGCGCGAGCCAGCAAGGGCCAAGGCCATTCCGGAAATCTACCTCACCCGTCTGC
TGTCCATGAAGGGCACGCTGCAGAAGTTTGTGGACGACACCTTCCAGGCCATTCTCAGCGTGAACCGGCCCATCCCCATCGCCGTCAAGTACCTGTTTGACCTTCTGGATGAGCTAGCAGAGAAGCAC
GGCATCGAGGACCCAGGGACCCTGCACATCTGGAAGACCAACAGTCTGCTGCTGCGGTTCTGGGTGAATGCCTTGAAGAACCCACAGCTCATCTTTGATGTACGGGTGTCGGACAATGTGGACGCCAT
CCTTGCTGTCATCGCCCAGACCTTCATTGACTCCTGTACCACCTCGGAGCATAAAGTGGGCCGGGATTCCCCAGTGAACAAACTGCTCTACGCCCGGGAGATCCCACGCTACAAGCAGATGGTGGAGA
GGTACTATGCGGACATTCGCCAGAGCTCTCCGGCGAGCTACCAGGAGATGAACTCTGCTTTGGCTGAGCTCTCCGGGAACTACACTTCTGCTCCCCACTGTCTGGAGGCTCTGCAAGAACTCTACAAC
CACATCCACAGGTACTATGATCAGATTATCAGTGCCCTGGAGGAGGACCCTGTGGGCCAGAAGCTGCAGCTGGCCTGCCGCCTGCAGCAGGTCGCCGCCCTGGTGGAAAACAAAGTGACTGACCTGTG
AGCTCTGGCTCAGACAGCAGCAAGCCGGATCCACCAACACCGCAGCGCCTTATGACCCCGGAACCGAGCCAGCCACTGAGGGGAGCTGGCAGAGCCTGGGGGCACAGGGTGCAAAGCCAGGCACTGTG
CCCAGCAGTGGGCTCCCTGCCTGCCACCTCCCCTGCCAGCCCACCCACCTTCCCCCCACCTGAGATTGTTTCTAATTTATAAGGATCCCCCTCCTTCCCCCTCTCCCCATTGTATTTATTTGCCTGCT
GGAAAATCACATCCGGAAATAAAATAGAAATATGTCTTTTTATTTTA

hide sequence

RefSeq Acc Id:

NM_005393 ⟹ NP_005384

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,764,249 - 153,779,341 (+)	NCBI
GRCh37	X	153,029,651 - 153,044,801 (+)	RGD
GRCh37	X	153,029,651 - 153,044,801 (+)	NCBI
Build 36	X	152,682,905 - 152,697,989 (+)	NCBI Archive
Celera	X	153,263,333 - 153,278,483 (+)	RGD
HuRef	X	141,686,716 - 141,701,865 (+)	ENTREZGENE
CHM1_1	X	152,904,061 - 152,919,212 (+)	NCBI
T2T-CHM13v2.0	X	152,037,914 - 152,053,006 (+)	NCBI

Sequence:

show sequence

GAGACGTGCTCCTGGCACCGCCAGCTGCTACTTGGCCCTCGCCGGTGGCCCACCAGGACAATGC
CCCCCCGCAGCCATCTCATGCCCATCGCCACTGCCCTGGGGCAGCTGAACTGAGCGTATGTGCCACGCCGCCCAGGAGACCCCTCTGCTGCACCACTTCATGGCCCCCGTGATGGCTCGCTGGCCTCC
CTTCGGCCTCTGCCTCCTCCTGCTGCTGCTGTCCCCACCGCCACTGCCCTTGACAGGGGCCCATCGCTTCTCCGCACCTAATACCACTCTCAACCACTTGGCACTGGCACCTGGCCGAGGCACACTCT
ATGTCGGCGCAGTGAACCGCCTCTTCCAGCTCAGCCCCGAGCTGCAGCTCGAGGCCGTGGCTGTCACTGGCCCTGTAATCGACAGCCCTGACTGCGTGCCCTTCCGTGACCCAGCCGAGTGCCCACAG
GCCCAGCTCACTGACAATGCCAACCAGCTGCTGCTGGTGAGCAGCCGCGCCCAGGAGCTGGTGGCCTGCGGGCAGGTGCGGCAGGGCGTGTGTGAGACACGGCGCCTTGGGGATGTGGCCGAGGTGCT
GTACCAGGCTGAGGACCCTGGTGACGGGCAGTTTGTGGCTGCCAATACCCCGGGAGTGGCAACGGTGGGGCTGGTGGTGCCCTTGCCCGGCCGGGACCTCCTGCTTGTGGCCAGAGGCCTGGCGGGCA
AGCTGTCGGCAGGGGTGCCACCCCTGGCCATCCGCCAGCTGGCCGGGTCTCAGCCCTTCTCCAGCGAGGGCCTGGGCCGCCTGGTGGTGGGCGACTTCTCCGACTACAACAACAGCTACGTCGGGGCC
TTTGCCGACGCCCGCTCCGCCTACTTCGTGTTCCGCCGCCGCGGGGCCCGGGCCCAGGCTGAGTACCGCTCCTACGTGGCCCGCGTCTGCCTGGGGGACACCAACCTGTACTCCTACGTGGAGGTCCC
CCTCGCCTGCCAGGGCCAGGGCCTCATCCAGGCCGCCTTCCTTGCCCCGGGCACCTTGCTAGGGGTGTTTGCCGCGGGCCCAAGGGGCACCCAGGCGGCGCTCTGTGCCTTCCCCATGGTGGAGCTGG
GTGCCAGCATGGAGCAGGCCCGGAGACTCTGCTACACGGCGGGCGGCCGGGGCCCCAGCGGCGCAGAGGAAGCCACCGTGGAGTACGGCGTCACGTCGCGCTGCGTCACCCTGCCCCTTGATTCCCCC
GAGTCGTACCCCTGTGGCGACGAGCACACCCCCAGCCCCATTGCTGGCCGCCAGCCCCTGGAGGTCCAGCCTCTGCTGAAGCTCGGGCAGCCGGTCAGCGCCGTGGCAGCTCTCCAGGCAGATGGGCA
CATGATAGCCTTCCTGGGGGACACCCAGGGCCAGCTGTACAAGGTCTTTCTCCACGGCTCCCAGGGCCAGGTTTACCACTCCCAGCAAGTGGGGCCTCCAGGCTCAGCCATCAGCCCAGACCTGCTGC
TGGACAGCAGTGGCAGTCACCTCTATGTCCTGACTGCCCACCAGGTGGACCGGATACCTGTGGCAGCCTGCCCCCAGTTCCCTGACTGTGCCAGCTGCCTCCAGGCCCAGGACCCGCTGTGTGGCTGG
TGTGTCCTCCAGGGCAGGTGTACCCGGAAGGGCCAGTGCGGGCGGGCAGGCCAGCTGAACCAGTGGCTGTGGAGTTATGAGGAGGACAGCCACTGCCTGCACATCCAGAGCCTGCTGCCGGGCCACCA
CCCCCGCCAGGAGCAGGGCCAGGTCACTTTGTCTGTCCCCCGGCTGCCCATCCTGGATGCAGATGAATACTTCCATTGTGCGTTCGGGGACTATGACAGCTTGGCTCATGTGGAAGGGCCCCACGTGG
CCTGTGTCACCCCTCCCCAAGACCAGGTGCCACTTAACCCTCCAGGCACAGACCACGTCACTGTGCCCCTGGCCCTGATGTTCGAGGACGTGACTGTGGCTGCCACCAACTTCTCCTTTTATGACTGC
AGTGCCGTCCAGGCCTTGGAGGCGGCTGCCCCGTGTCGCGCTTGCGTGGGCAGCATCTGGCGGTGTCACTGGTGCCCGCAGAGTAGCCACTGCGTGTACGGAGAGCACTGCCCAGAGGGCGAGAGGAC
CATCTACAGCGCCCAGGAGGTGGACATCCAGGTGCGTGGCCCAGGGGCTTGCCCACAGGTCGAAGGCCTGGCAGGTCCCCACCTGGTGCCTGTGGGCTGGGAGAGCCATTTGGCCCTACGCGTGCGGA
ACCTTCAACATTTCCGAGGCCTGCCTGCCTCCTTCCACTGCTGGCTGGAGCTGCCTGGAGAACTTCGGGGACTGCCGGCCACCCTGGAGGAGACAGCAGGGGATTCAGGCCTCATCCACTGCCAGGCC
CACCAGTTTTATCCCTCCATGTCCCAGCGGGAGCTCCCAGTGCCCATCTACGTCACCCAGGGTGAAGCCCAGAGGCTGGACAACACCCATGCTCTTTATGTGATCCTGTACGACTGCGCCATGGGCCA
CCCGGACTGCAGCCACTGCCAAGCGGCCAACAGGAGCCTGGGCTGCCTGTGGTGTGCTGACGGCCAGCCTGCCTGTCGCTATGGGCCCTTGTGCCCGCCGGGGGCTGTGGAGCTGCTGTGTCCTGCGC
CCAGCATTGATGCAGTCGAGCCCCTGACCGGTCCCCCTGAGGGAGGCTTGGCCCTCACCATCCTGGGCTCCAACCTGGGCCGGGCCTTCGCCGATGTGCAGTACGCCGTGAGCGTGGCCAGCCGGCCC
TGCAACCCTGAGCCCTCTCTCTACCGCACGTCGGCCCGGATTGTGTGTGTGACATCTCCTGCCCCCAATGGCACCACTGGGCCCGTCCGGGTGGCCATTAAGAGCCAGCCACCAGGCATCTCAAGCCA
GCACTTCACCTACCAGGACCCTGTCCTGCTGAGCCTGAGTCCTCGCTGGGGCCCCCAGGCAGGGGGCACCCAGCTCACCATCCGAGGTCAGCACCTCCAGACAGGTGGCAACACCAGTGCCTTCGTGG
GTGGCCAACCCTGTCCCATCCTGGAGCCAGTGTGTCCGGAGGCCATCGTGTGCCGTACCAGGCCCCAGGCTGCCCCAGGAGAAGCAGCGGTCCTTGTGGTCTTTGGCCATGCCCAGCGCACACTGCTC
GCCAGCCCCTTCCGCTACACCGCCAACCCCCAGCTTGTAGCGGCGGAGCCCAGTGCCAGCTTCCGGGGGGGTGGGCGACTGATCCGTGTCAGGGGCACCGGCCTAGACGTGGTGCAGCGGCCCCTACT
GTCTGTGTGGCTGGAGGCTGACGCAGAGGTGCAGGCTTCCAGGGCCCAGCCCCAGGACCCACAGCCAAGGAGGAGCTGTGGAGCCCCTGCTGCGGACCCCCAGGCTTGTATCCAGCTCGGTGGGGGGC
TGCTGCAGTGCTCCACCGTCTGCTCCGTCAACTCGTCCAGCCTCCTCCTGTGCCGGAGCCCTGCTGTACCAGACAGAGCCCACCCGCAGCGGGTCTTCTTCACCCTAGACAACGTGCAAGTGGACTTC
GCCAGTGCCAGTGGGGGCCAGGGCTTCCTGTACCAGCCCAACCCCCGCCTGGCACCCCTCAGCCGCGAGGGGCCTGCCCGCCCCTACCGCCTCAAGCCAGGCCATGTCCTGGATGTGGAGGGCGAGGG
CCTCAACCTGGGCATCAGCAAGGAGGAGGTGCGCGTGCACATCGGCCGCGGCGAGTGCCTGGTGAAGACGCTCACGCGCACCCACCTGTACTGCGAGCCGCCTGCGCACGCCCCGCAGCCTGCCAATG
GCTCCGGCCTGCCACAGTTCGTGGTGCAGATGGGCAATGTGCAGCTGGCCCTGGGCCCTGTGCAGTACGAGGCTGAACCCCCGCTGTCTGCCTTTCCCGTGGAGGCCCAGGCAGGCGTGGGCATGGGT
GCTGCAGTGCTGATTGCCGCCGTGCTCCTCCTCACCCTCATGTACAGGCACAAGAGCAAGCAGGCCCTGCGGGACTACCAGAAGGTGCTAGTGCAGCTGGAGAGCCTGGAGACCGGCGTGGGAGACCA
GTGCCGCAAGGAGTTCACAGACCTCATGACGGAGATGACCGACCTCAGCAGCGACCTGGAGGGCAGCGGGATCCCCTTCCTGGACTACCGCACCTACGCCGAGCGCGCCTTCTTCCCTGGCCATGGCG
GTTGCCCGCTGCAGCCCAAGCCTGAGGGGCCAGGGGAGGACGGCCACTGTGCCACTGTGCGCCAGGGCCTCACGCAGCTCTCCAACCTGCTCAACAGCAAGCTCTTCCTCCTCACGCTCATCCACACC
CTGGAGGAGCAGCCCAGCTTTTCCCAGAGGGATCGCTGCCATGTGGCTTCGCTGCTGTCGCTAGCGCTACACGGCAAGCTGGAGTACCTGACGGACATCATGAGGACCCTGCTGGGTGACCTGGCGGC
CCATTACGTGCACAGGAACCCCAAGCTCATGCTACGCAGGACAGAGACCATGGTGGAGAAACTGCTCACCAACTGGCTGTCCATCTGCCTGTACGCCTTCCTGAGGGAGGTGGCTGGTGAACCACTGT
ACATGCTCTTCCGGGCCATCCAGTACCAGGTGGACAAAGGCCCCGTGGACGCCGTGACAGGCAAGGCCAAACGGACCCTGAATGATAGCCGCTTGCTGCGGGAGGACGTGGAGTTCCAGCCCCTGACG
CTGATGGTGCTGGTGGGGCCCGGGGCTGGCGGGGCCGCAGGCAGCAGCGAGATGCAGCGCGTGCCAGCCCGGGTGCTCGACACGGACACCATCACCCAGGTCAAGGAGAAGGTGTTGGACCAAGTCTA
CAAGGGCACCCCCTTCTCCCAGAGGCCCTCAGTGCATGCCCTAGACCTTGAGTGGCGCTCAGGCCTGGCTGGTCACCTGACCCTATCGGACGAAGACTTGACCTCCGTGACCCAAAACCACTGGAAGA
GACTCAACACCTTGCAACACTACAAGGTCCCAGATGGAGCAACAGTGGGGCTCGTCCCTCAGCTGCACCGTGGCAGCACCATCTCCCAGAGCCTGGCCCAGAGGTGCCCCTTGGGAGAGAACATACCC
ACGCTGGAGGATGGCGAGGAGGGGGGGGTGTGCCTCTGGCACCTGGTGAAAGCCACCGAGGAGCCAGAAGGGGCCAAGGTGCGGTGCAGCAGCCTGCGGGAGCGCGAGCCAGCAAGGGCCAAGGCCAT
TCCGGAAATCTACCTCACCCGTCTGCTGTCCATGAAGGGCACGCTGCAGAAGTTTGTGGACGACACCTTCCAGGCCATTCTCAGCGTGAACCGGCCCATCCCCATCGCCGTCAAGTACCTGTTTGACC
TTCTGGATGAGCTAGCAGAGAAGCACGGCATCGAGGACCCAGGGACCCTGCACATCTGGAAGACCAACAGTCTGCTGCTGCGGTTCTGGGTGAATGCCTTGAAGAACCCACAGCTCATCTTTGATGTA
CGGGTGTCGGACAATGTGGACGCCATCCTTGCTGTCATCGCCCAGACCTTCATTGACTCCTGTACCACCTCGGAGCATAAAGTGGGCCGGGATTCCCCAGTGAACAAACTGCTCTACGCCCGGGAGAT
CCCACGCTACAAGCAGATGGTGGAGAGGTACTATGCGGACATTCGCCAGAGCTCTCCGGCGAGCTACCAGGAGATGAACTCTGCTTTGGCTGAGCTCTCCGGGAACTACACTTCTGCTCCCCACTGTC
TGGAGGCTCTGCAAGAACTCTACAACCACATCCACAGGTACTATGATCAGATTATCAGTGCCCTGGAGGAGGACCCTGTGGGCCAGAAGCTGCAGCTGGCCTGCCGCCTGCAGCAGGTCGCCGCCCTG
GTGGAAAACAAAGTGACTGACCTGTGAGCTCTGGCTCAGACAGCAGCAAGCCGGATCCACCAACACCGCAGCGCCTTATGACCCCGGAACCGAGCCAGCCACTGAGGGGAGCTGGCAGAGCCTGGGGG
CACAGGGTGCAAAGCCAGGCACTGTGCCCAGCAGTGGGCTCCCTGCCTGCCACCTCCCCTGCCAGCCCACCCACCTTCCCCCCACCTGAGATTGTTTCTAATTTATAAGGATCCCCCTCCTTCCCCCT
CTCCCCATTGTATTTATTTGCCTGCTGGAAAATCACATCCGGAAATAAAATAGAAATATGTCTTTTTATTTTA

hide sequence


Protein RefSeqs	NP_001156729	(Get FASTA)	NCBI Sequence Viewer
	NP_005384	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG01376	(Get FASTA)	NCBI Sequence Viewer
	BAA86520	(Get FASTA)	NCBI Sequence Viewer
	BAF85224	(Get FASTA)	NCBI Sequence Viewer
	BAH12182	(Get FASTA)	NCBI Sequence Viewer
	BAH12202	(Get FASTA)	NCBI Sequence Viewer
	BAH12215	(Get FASTA)	NCBI Sequence Viewer
	BAH12382	(Get FASTA)	NCBI Sequence Viewer
	BAH14241	(Get FASTA)	NCBI Sequence Viewer
	EAW72815	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000355378
	ENSP00000355378.5
	ENSP00000442736
	ENSP00000442736.1
GenBank Protein	Q9ULL4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005384 ⟸ NM_005393
- Peptide Label:	isoform 1 precursor
- UniProtKB:	F5H773 (UniProtKB/Swiss-Prot), B7Z3E6 (UniProtKB/Swiss-Prot), Q9HDA4 (UniProtKB/Swiss-Prot), Q9ULL4 (UniProtKB/Swiss-Prot), A8K920 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCHAAQETPLLHHFMAPVMARWPPFGLCLLLLLLSPPPLPLTGAHRFSAPNTTLNHLALAPGRGTLYVGAVNRLFQLSPELQLEAVAVTGPVIDSPDCVPFRDPAECPQAQLTDNANQLLLVSSRAQE LVACGQVRQGVCETRRLGDVAEVLYQAEDPGDGQFVAANTPGVATVGLVVPLPGRDLLLVARGLAGKLSAGVPPLAIRQLAGSQPFSSEGLGRLVVGDFSDYNNSYVGAFADARSAYFVFRRRGARAQ AEYRSYVARVCLGDTNLYSYVEVPLACQGQGLIQAAFLAPGTLLGVFAAGPRGTQAALCAFPMVELGASMEQARRLCYTAGGRGPSGAEEATVEYGVTSRCVTLPLDSPESYPCGDEHTPSPIAGRQP LEVQPLLKLGQPVSAVAALQADGHMIAFLGDTQGQLYKVFLHGSQGQVYHSQQVGPPGSAISPDLLLDSSGSHLYVLTAHQVDRIPVAACPQFPDCASCLQAQDPLCGWCVLQGRCTRKGQCGRAGQL NQWLWSYEEDSHCLHIQSLLPGHHPRQEQGQVTLSVPRLPILDADEYFHCAFGDYDSLAHVEGPHVACVTPPQDQVPLNPPGTDHVTVPLALMFEDVTVAATNFSFYDCSAVQALEAAAPCRACVGSI WRCHWCPQSSHCVYGEHCPEGERTIYSAQEVDIQVRGPGACPQVEGLAGPHLVPVGWESHLALRVRNLQHFRGLPASFHCWLELPGELRGLPATLEETAGDSGLIHCQAHQFYPSMSQRELPVPIYVT QGEAQRLDNTHALYVILYDCAMGHPDCSHCQAANRSLGCLWCADGQPACRYGPLCPPGAVELLCPAPSIDAVEPLTGPPEGGLALTILGSNLGRAFADVQYAVSVASRPCNPEPSLYRTSARIVCVTS PAPNGTTGPVRVAIKSQPPGISSQHFTYQDPVLLSLSPRWGPQAGGTQLTIRGQHLQTGGNTSAFVGGQPCPILEPVCPEAIVCRTRPQAAPGEAAVLVVFGHAQRTLLASPFRYTANPQLVAAEPSA SFRGGGRLIRVRGTGLDVVQRPLLSVWLEADAEVQASRAQPQDPQPRRSCGAPAADPQACIQLGGGLLQCSTVCSVNSSSLLLCRSPAVPDRAHPQRVFFTLDNVQVDFASASGGQGFLYQPNPRLAP LSREGPARPYRLKPGHVLDVEGEGLNLGISKEEVRVHIGRGECLVKTLTRTHLYCEPPAHAPQPANGSGLPQFVVQMGNVQLALGPVQYEAEPPLSAFPVEAQAGVGMGAAVLIAAVLLLTLMYRHKS KQALRDYQKVLVQLESLETGVGDQCRKEFTDLMTEMTDLSSDLEGSGIPFLDYRTYAERAFFPGHGGCPLQPKPEGPGEDGHCATVRQGLTQLSNLLNSKLFLLTLIHTLEEQPSFSQRDRCHVASLL SLALHGKLEYLTDIMRTLLGDLAAHYVHRNPKLMLRRTETMVEKLLTNWLSICLYAFLREVAGEPLYMLFRAIQYQVDKGPVDAVTGKAKRTLNDSRLLREDVEFQPLTLMVLVGPGAGGAAGSSEMQ RVPARVLDTDTITQVKEKVLDQVYKGTPFSQRPSVHALDLEWRSGLAGHLTLSDEDLTSVTQNHWKRLNTLQHYKVPDGATVGLVPQLHRGSTISQSLAQRCPLGENIPTLEDGEEGGVCLWHLVKAT EEPEGAKVRCSSLREREPARAKAIPEIYLTRLLSMKGTLQKFVDDTFQAILSVNRPIPIAVKYLFDLLDELAEKHGIEDPGTLHIWKTNSLLLRFWVNALKNPQLIFDVRVSDNVDAILAVIAQTFID SCTTSEHKVGRDSPVNKLLYAREIPRYKQMVERYYADIRQSSPASYQEMNSALAELSGNYTSAPHCLEALQELYNHIHRYYDQIISALEEDPVGQKLQLACRLQQVAALVENKVTDL hide sequence

RefSeq Acc Id:	NP_001156729 ⟸ NM_001163257
- Peptide Label:	isoform 2
- UniProtKB:	A8K920 (UniProtKB/TrEMBL)
- Sequence:	show sequence MELTPASSLTCSLLSPRLPGSFPQLRRVPPCSRPWLPKAPVMARWPPFGLCLLLLLLSPPPLPLTGAHRFSAPNTTLNHLALAPGRGTLYVGAVNRLFQLSPELQLEAVAVTGPVIDSPDCVPFRDPA ECPQAQLTDNANQLLLVSSRAQELVACGQVRQGVCETRRLGDVAEVLYQAEDPGDGQFVAANTPGVATVGLVVPLPGRDLLLVARGLAGKLSAGVPPLAIRQLAGSQPFSSEGLGRLVVGDFSDYNNS YVGAFADARSAYFVFRRRGARAQAEYRSYVARVCLGDTNLYSYVEVPLACQGQGLIQAAFLAPGTLLGVFAAGPRGTQAALCAFPMVELGASMEQARRLCYTAGGRGPSGAEEATVEYGVTSRCVTLP LDSPESYPCGDEHTPSPIAGRQPLEVQPLLKLGQPVSAVAALQADGHMIAFLGDTQGQLYKVFLHGSQGQVYHSQQVGPPGSAISPDLLLDSSGSHLYVLTAHQVDRIPVAACPQFPDCASCLQAQDP LCGWCVLQGRCTRKGQCGRAGQLNQWLWSYEEDSHCLHIQSLLPGHHPRQEQGQVTLSVPRLPILDADEYFHCAFGDYDSLAHVEGPHVACVTPPQDQVPLNPPGTDHVTVPLALMFEDVTVAATNFS FYDCSAVQALEAAAPCRACVGSIWRCHWCPQSSHCVYGEHCPEGERTIYSAQEVDIQVRGPGACPQVEGLAGPHLVPVGWESHLALRVRNLQHFRGLPASFHCWLELPGELRGLPATLEETAGDSGLI HCQAHQFYPSMSQRELPVPIYVTQGEAQRLDNTHALYVILYDCAMGHPDCSHCQAANRSLGCLWCADGQPACRYGPLCPPGAVELLCPAPSIDAVEPLTGPPEGGLALTILGSNLGRAFADVQYAVSV ASRPCNPEPSLYRTSARIVCVTSPAPNGTTGPVRVAIKSQPPGISSQHFTYQDPVLLSLSPRWGPQAGGTQLTIRGQHLQTGGNTSAFVGGQPCPILEPVCPEAIVCRTRPQAAPGEAAVLVVFGHAQ RTLLASPFRYTANPQLVAAEPSASFRGGGRLIRVRGTGLDVVQRPLLSVWLEADAEVQASRAQPQDPQPRRSCGAPAADPQACIQLGGGLLQCSTVCSVNSSSLLLCRSPAVPDRAHPQRVFFTLDNV QVDFASASGGQGFLYQPNPRLAPLSREGPARPYRLKPGHVLDVEGEGLNLGISKEEVRVHIGRGECLVKTLTRTHLYCEPPAHAPQPANGSGLPQFVVQMGNVQLALGPVQYEAEPPLSAFPVEAQAG VGMGAAVLIAAVLLLTLMYRHKSKQALRDYQKVLVQLESLETGVGDQCRKEFTDLMTEMTDLSSDLEGSGIPFLDYRTYAERAFFPGHGGCPLQPKPEGPGEDGHCATVRQGLTQLSNLLNSKLFLLT LIHTLEEQPSFSQRDRCHVASLLSLALHGKLEYLTDIMRTLLGDLAAHYVHRNPKLMLRRTETMVEKLLTNWLSICLYAFLREVAGEPLYMLFRAIQYQVDKGPVDAVTGKAKRTLNDSRLLREDVEF QPLTLMVLVGPGAGGAAGSSEMQRVPARVLDTDTITQVKEKVLDQVYKGTPFSQRPSVHALDLEWRSGLAGHLTLSDEDLTSVTQNHWKRLNTLQHYKVPDGATVGLVPQLHRGSTISQSLAQRCPLG ENIPTLEDGEEGGVCLWHLVKATEEPEGAKVRCSSLREREPARAKAIPEIYLTRLLSMKGTLQKFVDDTFQAILSVNRPIPIAVKYLFDLLDELAEKHGIEDPGTLHIWKTNSLLLRFWVNALKNPQL IFDVRVSDNVDAILAVIAQTFIDSCTTSEHKVGRDSPVNKLLYAREIPRYKQMVERYYADIRQSSPASYQEMNSALAELSGNYTSAPHCLEALQELYNHIHRYYDQIISALEEDPVGQKLQLACRLQQ VAALVENKVTDL hide sequence

Ensembl Acc Id:

ENSP00000391650 ⟸ ENST00000411613

Ensembl Acc Id:

ENSP00000355378 ⟸ ENST00000361971

Ensembl Acc Id:

ENSP00000396048 ⟸ ENST00000455214

Protein Domains

IPT/TIG Plexin cytoplasmic RasGAP Plexin cytoplasmic RhoGTPase-binding PSI Sema

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9ULL4-F1-model_v2	AlphaFold	Q9ULL4	1-1909	view protein structure

RGD ID:

6809151

Promoter ID:

HG_KWN:68556

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid

Transcripts:

NM_001163257, UC004FII.1, UC010NUK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,682,241 - 152,683,042 (+)	MPROMDB

RGD ID:

6809150

Promoter ID:

HG_KWN:68558

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000061067, OTTHUMT00000061070, UC004FIJ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,692,091 - 152,693,342 (+)	MPROMDB

RGD ID:

6809288

Promoter ID:

HG_KWN:68559

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Jurkat

Transcripts:

OTTHUMT00000061065, UC004FIK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,694,559 - 152,695,059 (+)	MPROMDB

RGD ID:

6809137

Promoter ID:

HG_KWN:68560

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000061064, OTTHUMT00000061066

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,695,541 - 152,696,192 (+)	MPROMDB

RGD ID:

6809136

Promoter ID:

HG_KWN:68561

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000061068, OTTHUMT00000061069

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,696,391 - 152,697,237 (+)	MPROMDB

RGD ID:

13628516

Promoter ID:

EPDNEW_H29496

Type:

initiation region

Name:

PLXNB3_1

Description:

plexin B3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29501 EPDNEW_H29502

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,764,249 - 153,764,309	EPDNEW

RGD ID:

13628518

Promoter ID:

EPDNEW_H29497

Type:

initiation region

Name:

PLXNB3_2

Description:

plexin B3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29496 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29501 EPDNEW_H29502

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,765,508 - 153,765,568	EPDNEW

RGD ID:

13628522

Promoter ID:

EPDNEW_H29499

Type:

initiation region

Name:

PLXNB3_4

Description:

plexin B3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29500 EPDNEW_H29501 EPDNEW_H29502

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,776,876 - 153,776,936	EPDNEW

RGD ID:

13628524

Promoter ID:

EPDNEW_H29500

Type:

initiation region

Name:

PLXNB3_3

Description:

plexin B3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29501 EPDNEW_H29502

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,777,237 - 153,777,297	EPDNEW

RGD ID:

13628526

Promoter ID:

EPDNEW_H29501

Type:

initiation region

Name:

PLXNB3_6

Description:

plexin B3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29502

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,778,520 - 153,778,580	EPDNEW

RGD ID:

13628528

Promoter ID:

EPDNEW_H29502

Type:

initiation region

Name:

PLXNB3_5

Description:

plexin B3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29496 EPDNEW_H29497 EPDNEW_H29499 EPDNEW_H29500 EPDNEW_H29501

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,779,026 - 153,779,086	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PLXNB3	COSMIC
Ensembl Genes	ENSG00000198753	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000361971	ENTREZGENE
	ENST00000361971.10	UniProtKB/Swiss-Prot
	ENST00000538966	ENTREZGENE
	ENST00000538966.5	UniProtKB/Swiss-Prot
Gene3D-CATH	2.130.10.10	UniProtKB/Swiss-Prot
	2.60.40.10	UniProtKB/Swiss-Prot
	GTPase Activation - p120gap, domain 1	UniProtKB/Swiss-Prot
	Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1	UniProtKB/Swiss-Prot
GTEx	ENSG00000198753	GTEx
HGNC ID	HGNC:9105	ENTREZGENE
Human Proteome Map	PLXNB3	Human Proteome Map
InterPro	Ig-like_fold	UniProtKB/Swiss-Prot
	Ig_E-set	UniProtKB/Swiss-Prot
	IPT_dom	UniProtKB/Swiss-Prot
	Plexin	UniProtKB/Swiss-Prot
	Plexin_cytoplasmic_RasGAP_dom	UniProtKB/Swiss-Prot
	Plexin_RBD	UniProtKB/Swiss-Prot
	Plexin_repeat	UniProtKB/Swiss-Prot
	PSI	UniProtKB/Swiss-Prot
	Rho_GTPase_activation_prot	UniProtKB/Swiss-Prot
	Semap_dom	UniProtKB/Swiss-Prot
	Semap_dom_sf	UniProtKB/Swiss-Prot
	TIG1_plexin	UniProtKB/Swiss-Prot
	TIG2_plexin	UniProtKB/Swiss-Prot
	WD40/YVTN_repeat-like_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:5365	UniProtKB/Swiss-Prot
NCBI Gene	5365	ENTREZGENE
OMIM	300214	OMIM
PANTHER	PLEXIN-B3	UniProtKB/Swiss-Prot
	PTHR22625	UniProtKB/Swiss-Prot
Pfam	Plexin_cytopl	UniProtKB/Swiss-Prot
	Plexin_RBD	UniProtKB/Swiss-Prot
	PSI	UniProtKB/Swiss-Prot
	Sema	UniProtKB/Swiss-Prot
	TIG	UniProtKB/Swiss-Prot
	TIG_2	UniProtKB/Swiss-Prot
	TIG_plexin	UniProtKB/Swiss-Prot
PharmGKB	PA33431	PharmGKB
PROSITE	SEMA	UniProtKB/Swiss-Prot
SMART	IPT	UniProtKB/Swiss-Prot
	PSI	UniProtKB/Swiss-Prot
	Sema	UniProtKB/Swiss-Prot
Superfamily-SCOP	Plexin repeat	UniProtKB/Swiss-Prot
	SSF101912	UniProtKB/Swiss-Prot
	SSF48350	UniProtKB/Swiss-Prot
	SSF81296	UniProtKB/Swiss-Prot
UniProt	A8K920	ENTREZGENE, UniProtKB/TrEMBL
	B7Z3E6	ENTREZGENE
	F5H773	ENTREZGENE
	H7BZV5_HUMAN	UniProtKB/TrEMBL
	H7C0P4_HUMAN	UniProtKB/TrEMBL
	H7C3L0_HUMAN	UniProtKB/TrEMBL
	PLXB3_HUMAN	UniProtKB/Swiss-Prot
	Q9HDA4	ENTREZGENE
	Q9ULL4	ENTREZGENE
UniProt Secondary	B7Z3E6	UniProtKB/Swiss-Prot
	F5H773	UniProtKB/Swiss-Prot
	Q9HDA4	UniProtKB/Swiss-Prot

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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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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