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GJB3 gap junction protein beta 3 [ Homo sapiens (human) ]

Gene ID: 2707, updated on 5-Mar-2024

Summary

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Official Symbol
GJB3provided by HGNC
Official Full Name
gap junction protein beta 3provided by HGNC
Primary source
HGNC:HGNC:4285
See related
Ensembl:ENSG00000188910 MIM:603324; AllianceGenome:HGNC:4285
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EKV; CX31; DFNA2; EKVP1; DFNA2B
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. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression
Biased expression in skin (RPKM 23.0), esophagus (RPKM 12.6) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
1p34.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34781214..34786364)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34643843..34648993)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35246815..35251965)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gap junction protein beta 5 Neighboring gene gap junction protein beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35252149-35252354 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35252567-35252767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35257658-35258158 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35259863-35260017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 716 Neighboring gene gap junction protein alpha 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35307996-35308683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35312807-35313492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35319252-35320122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 628 Neighboring gene small integral membrane protein 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. Okuda K, et al. J Dermatol, 2020 Jan. PMID 31599015
  2. Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. Deng Y, et al. Australas J Dermatol, 2019 Feb. PMID 29992552, Free PMC Article
  3. GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary? Chen K, et al. J Clin Lab Anal, 2018 Nov. PMID 29926981, Free PMC Article
  4. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. Easton JA, et al. Exp Dermatol, 2019 Oct. PMID 29570224
  5. The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population. Huang S, et al. Int J Pediatr Otorhinolaryngol, 2017 Nov. PMID 29106878

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
    Title: Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
  2. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
    Title: The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
  3. Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
    Title: Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
  4. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
    Title: A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
  5. Four patients were identified to carry the GJB3 mutation in a heterozygous state, including three with c.538C > T and one with c.547G > A
    Title: Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
  6. Here, we reported a novel compound heterozygous mutations of GJB3 gene in a Chinese EKPV family with autosomal recessive inheritance pattern.
    Title: Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva.
  7. GJB3 gene mutation was not involved with hearing loss in Shanghai area.
    Title: [Analysis of mutations of 4 common genes among 216 patients with non-syndromic hearing impairment].
  8. The results of this study showed that GJB3 mutants appear to account for a small proportion in double heterozygous state with autosomal recessive GJB2 mutation .
    Title: GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
  9. Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G.
    Title: Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China.
  10. The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China
    Title: Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22486, MGC102938

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gap junction channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in placenta development IEA
Inferred from Electronic Annotation
more info
  
involved_in skin development IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
  
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in gap junction NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
gap junction beta-3 protein
Names
connexin 31
gap junction protein, beta 3, 31kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008309.1 RefSeqGene

    Range
    5026..10176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005752.2 → NP_001005752.1  gap junction beta-3 protein

    See identical proteins and their annotated locations for NP_001005752.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL121988, BC012918, BM763034
    Consensus CDS
    CCDS384.1
    UniProtKB/Swiss-Prot
    B2R790, O75712, Q2TAZ8
    UniProtKB/TrEMBL
    A0A654ICK0, A1YRJ5
    Related
    ENSP00000362460.3, ENST00000373362.3
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 211
    Connexin

  2. NM_024009.3 → NP_076872.1  gap junction beta-3 protein

    See identical proteins and their annotated locations for NP_076872.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK026139, AL547036, BE673240, BM846348
    Consensus CDS
    CCDS384.1
    UniProtKB/Swiss-Prot
    B2R790, O75712, Q2TAZ8
    UniProtKB/TrEMBL
    A0A654ICK0, A1YRJ5
    Related
    ENSP00000362464.2, ENST00000373366.3
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 211
    Connexin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    34781214..34786364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    34643843..34648993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75712.1 GenPept UniProtKB/Swiss-Prot:O75712

Gene LinkOut

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