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    GJB6 gap junction protein beta 6 [ Homo sapiens (human) ]

    Gene ID: 10804, updated on 23-Nov-2023

    Summary

    Official Symbol
    GJB6provided by HGNC
    Official Full Name
    gap junction protein beta 6provided by HGNC
    Primary source
    HGNC:HGNC:4288
    See related
    Ensembl:ENSG00000121742 MIM:604418; AllianceGenome:HGNC:4288
    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
    ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B
    Summary
    Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 49.4), bone marrow (RPKM 18.1) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJB6 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20221962..20232319, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19418446..19428785, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20796101..20806458, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7417 Neighboring gene gap junction protein beta 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32461 Neighboring gene uncharacterized LOC105370102 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:20924041-20924563 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20965718-20966226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20966227-20966734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20979975-20980494 Neighboring gene NANOG hESC enhancer GRCh37_chr13:20986998-20987499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20989417-20989998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20989999-20990580 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7421 Neighboring gene crystallin lambda 1 Neighboring gene microRNA 4499

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gap junction channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gap junction channel activity involved in cell communication by electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell communication by electrical coupling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gap junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in gap junction assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in gap junction-mediated intercellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gap junction-mediated intercellular transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inner ear development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sinoatrial node development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin filament IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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 gap junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in gap junction NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    gap junction beta-6 protein
    Names
    connexin 30
    ectodermal dysplasia 2, hidrotic (Clouston syndrome)
    gap junction protein, beta 6, 30kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008323.1 RefSeqGene

      Range
      5077..15434
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1395

    mRNA and Protein(s)

    1. NM_001110219.3NP_001103689.1  gap junction beta-6 protein

      See identical proteins and their annotated locations for NP_001103689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All variants encode the same protein.
      Source sequence(s)
      AK075247, BC038934, BP227986, CF453597, DN998505
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000493834.1, ENST00000647029.1
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin
    2. NM_001110220.3NP_001103690.1  gap junction beta-6 protein

      See identical proteins and their annotated locations for NP_001103690.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AY789475, BC038934, BP227986, DB577868, DN998505
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000495320.1, ENST00000644283.1
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin
    3. NM_001110221.3NP_001103691.1  gap junction beta-6 protein

      See identical proteins and their annotated locations for NP_001103691.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two 5' UTR segments, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      BC038934, BP227986, DB577868, DN998505
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000382938.3, ENST00000400065.7
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin
    4. NM_001370090.1NP_001357019.1  gap junction beta-6 protein

      Status: REVIEWED

      Source sequence(s)
      AL355984
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000495841.1, ENST00000643211.1
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin
    5. NM_001370091.1NP_001357020.1  gap junction beta-6 protein

      Status: REVIEWED

      Source sequence(s)
      AL355984, DC420777
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000382939.3, ENST00000400066.8
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin
    6. NM_001370092.1NP_001357021.1  gap junction beta-6 protein

      Status: REVIEWED

      Source sequence(s)
      AL355984
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000494733.1, ENST00000647243.1
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin
    7. NM_006783.5NP_006774.2  gap junction beta-6 protein

      See identical proteins and their annotated locations for NP_006774.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK289592, BC038934, BE181310
      Consensus CDS
      CCDS9291.1
      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000241124.6, ENST00000241124.11
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      20221962..20232319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430056.1XP_047286012.1  gap junction beta-6 protein isoform X1

      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
    2. XM_047430057.1XP_047286013.1  gap junction beta-6 protein isoform X1

      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
      Related
      ENSP00000493621.1, ENST00000644667.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      19418446..19428785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374035.1XP_054230010.1  gap junction beta-6 protein isoform X1

      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4
    2. XM_054374036.1XP_054230011.1  gap junction beta-6 protein isoform X1

      UniProtKB/Swiss-Prot
      B3KQN2, O95452, Q5Q1H9, Q5Q1I0, Q5Q1I1, Q5T5U0, Q8IUP0
      UniProtKB/TrEMBL
      A0A024RDS4