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

    Gene ID: 2707, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See GJB3 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34781214..34786364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34643843..34648993)
    RS_2024_09 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. 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
    2. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. Chi J, et al. PLoS One, 2012. PMID 22393412, Free PMC Article
    3. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Di WL, et al. Hum Mol Genet, 2002 Aug 15. PMID 12165562
    4. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Diestel S, et al. Biochem Biophys Res Commun, 2002 Aug 23. PMID 12176042
    5. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. López-Bigas N, et al. Hum Mol Genet, 2001 Apr 15. PMID 11309368

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impairment of alpha-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
      Title: Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
    2. 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.
    3. 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.
    4. Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
      Title: Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
    5. 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.
    6. 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.
    7. 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.
    8. 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].
    9. 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?
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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