Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2707
Gene name	Gap junction protein beta 3
Gene symbol	GJB3
Synonyms (NCBI Gene)	CX31DFNA2DFNA2BEKVEKVP1
Chromosome	1
Chromosome location	1p34.3
Summary	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Muta

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023520	hsa-miR-1-3p	Microarray	18668037
MIRT1019779	hsa-miR-1298	CLIP-seq
MIRT1019780	hsa-miR-4690-3p	CLIP-seq
MIRT1019781	hsa-miR-554	CLIP-seq
MIRT1019779	hsa-miR-1298	CLIP-seq
MIRT1019780	hsa-miR-4690-3p	CLIP-seq
MIRT1019781	hsa-miR-554	CLIP-seq
MIRT1019779	hsa-miR-1298	CLIP-seq
MIRT2235017	hsa-miR-4268	CLIP-seq
MIRT2235018	hsa-miR-4419a	CLIP-seq
MIRT2235019	hsa-miR-4486	CLIP-seq
MIRT2235020	hsa-miR-4510	CLIP-seq
MIRT1019780	hsa-miR-4690-3p	CLIP-seq
MIRT2235021	hsa-miR-516b	CLIP-seq
MIRT1019781	hsa-miR-554	CLIP-seq
MIRT1019779	hsa-miR-1298	CLIP-seq
MIRT1019780	hsa-miR-4690-3p	CLIP-seq
MIRT1019781	hsa-miR-554	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001890	Process	Placenta development	IEA
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	NAS	9704026
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	NAS	9704026
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
603324	4285	ENSG00000188910

O75712

Protein name

Gap junction beta-3 protein (Connexin-31) (Cx31)

Protein function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	2 → 211	Connexin	Family

Sequence

MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGC
TNVCYDNYFPISNIRLWALQLIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNA
GKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPRLVQCANVAPCPNIVDCYIAR
PTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPRGGCSPSSSASRASTCR
CHHKLVEAGEVDPDPGNNKLQASAPNLTPI

Sequence length

270

Interactions

View interactions

	Reactome
			Gap junction assembly

145

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 2B	Pathogenic	rs28937583	RCV004584593
Autosomal recessive nonsyndromic hearing loss 1A	Pathogenic	rs1557659237	RCV000770824
Deafness, digenic, GJB2/GJB3	Pathogenic	rs121908851	RCV000006865
Erythrokeratodermia variabilis et progressiva 1	Pathogenic	rs74315315, rs74315316, rs74315317, rs74315321, rs28937583	RCV000006855 RCV000006856 RCV000006857 RCV000006862 RCV000006864

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive nonsyndromic hearing loss 8	Uncertain significance	rs2521975478	RCV004585204
Deafness, autosomal dominant, with peripheral neuropathy	Conflicting classifications of pathogenicity	rs786200895	RCV000006863
Erythrokeratodermia variabilis	Uncertain significance	rs748575478	RCV005359728
GJB3-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs373815705, rs200055020, rs200902087, rs150245955, rs771511736, rs74315318, rs74315319, rs148388884, rs1173387127, rs367983532, rs370476720, rs201469743, rs142544385, rs201567729, rs546531284, rs61732295 View all (1 more)	RCV004752087 RCV003937450 RCV003945185 RCV003945186 RCV003973758 RCV004751206 RCV005867728 RCV003967570 RCV003396986 RCV003392877 RCV003949993 RCV003920208 RCV004750909 RCV003911837 RCV003943896 RCV003970442
Hearing impairment	Conflicting classifications of pathogenicity	rs786200895	RCV002243625
Hearing loss, autosomal recessive	Uncertain significance	rs770247378, rs74315320	RCV000006860 RCV000006861
Nonsyndromic Deafness	Conflicting classifications of pathogenicity	rs144964568	RCV001844224
Nonsyndromic Hearing Loss, Dominant	Uncertain significance	rs1057515478, rs935438706, rs1057515479	RCV000287194 RCV000382209 RCV000348455

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35403268, 37938151
Colitis Ulcerative	Associate	32322884
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15140211
Deafness	Associate	21917135, 22534022, 28151902, 28717060, 29926981, 30036422, 30235673, 30973918, 31250571, 31345197, 31992338, 38172182, 38172427, 39700758
Epidermal Cyst	Associate	11676838, 14681040
Erythema	Associate	12926797
Erythrokeratoderma Reticular	Associate	10594760, 11676838, 16297190, 19755382
Erythrokeratodermia Variabilis	Associate	11017804, 12648223, 14594578, 16077902, 22393412, 25964267, 30924322
Hearing Loss	Associate	14681040, 16077902, 19755382, 22617145, 29707576, 29926981, 30036422, 37801830
Hearing Loss Sensorineural	Associate	15140211, 21254920, 30036422, 35580552
Keratitis Ichthyosis Deafness Syndrome	Associate	15140211
Necrosis	Associate	22393412
Neoplasms	Inhibit	29747774
Neoplastic Syndromes Hereditary	Associate	20668687, 28429364, 31846914, 33907123
Nervous System Diseases	Associate	19755382
Nonsyndromic Deafness	Associate	22617145, 23256547, 23990876, 24612839, 30235673
Nonsyndromic sensorineural hearing loss	Associate	28505178, 29926981, 31846914
Peripheral Nervous System Diseases	Associate	16077902, 19755382
Skin Diseases	Associate	14681040, 16297190, 19755382
Skin Diseases Genetic	Associate	10594760
Thyroid Cancer Papillary	Associate	29747774
Thyroid Neoplasms	Inhibit	29747774
Usher Syndromes	Associate	35580552

GJB3 (gap junction protein beta 3)