Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603324 4285 ENSG00000188910
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 270
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Gap junction assembly
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant nonsyndromic hearing loss 2B Pathogenic rs28937583 RCV004584593
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 1A Pathogenic rs1557659237 RCV000770824
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, digenic, GJB2/GJB3 Pathogenic rs121908851 RCV000006865
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrokeratodermia variabilis et progressiva 1 Pathogenic rs74315315, rs74315316, rs74315317, rs74315321, rs28937583 RCV000006855
RCV000006856
RCV000006857
RCV000006862
RCV000006864
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 8 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease BEFREE 10767631
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 32322884 Associate
★☆☆☆☆
Found in Text Mining only
Congenital sensorineural hearing loss Congenital Sensorineural Hearing Loss BEFREE 15140211
★☆☆☆☆
Found in Text Mining only
Deaf Mutism Deafness CTD_human_DG 9843210
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 21917135, 22534022, 28151902, 28717060, 29926981, 30036422, 30235673, 30973918, 31250571, 31345197, 31992338, 38172182, 38172427, 39700758 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations