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    GJC2 gap junction protein gamma 2 [ Homo sapiens (human) ]

    Gene ID: 57165, updated on 5-Mar-2024

    Summary

    Official Symbol
    GJC2provided by HGNC
    Official Full Name
    gap junction protein gamma 2provided by HGNC
    Primary source
    HGNC:HGNC:17494
    See related
    Ensembl:ENSG00000198835 MIM:608803; AllianceGenome:HGNC:17494
    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
    Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR
    Summary
    This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 4.2), endometrium (RPKM 1.5) and 19 other tissues See more
    Orthologs
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    Genomic context

    See GJC2 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228149930..228159826)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227338927..227348822)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228337631..228347527)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228331588-228332114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228332115-228332639 Neighboring gene guanylate kinase 1 Neighboring gene uncharacterized LOC124904534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228353090-228353992 Neighboring gene IBA57 divergent transcript Neighboring gene iron-sulfur cluster assembly factor IBA57 Neighboring gene Sharpr-MPRA regulatory region 12629

    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

    Clone Names

    • MGC105119

    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 involved in cell communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    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 myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    located_in paranode region of axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in proximal neuron projection IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    gap junction gamma-2 protein
    Names
    connexin-46.6
    connexin-47
    gap junction alpha-12 protein
    gap junction protein, gamma 2, 47kDa

    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_011838.1 RefSeqGene

      Range
      5079..14975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020435.4NP_065168.2  gap junction gamma-2 protein

      See identical proteins and their annotated locations for NP_065168.2

      Status: REVIEWED

      Source sequence(s)
      AL359510, BC089439
      Consensus CDS
      CCDS1569.1
      UniProtKB/Swiss-Prot
      O43440, Q5T442, Q7Z7J2, Q8IWJ9
      UniProtKB/TrEMBL
      A0A654IBV7
      Related
      ENSP00000355675.2, ENST00000366714.3
      Conserved Domains (1) summary
      pfam00029
      Location:5291
      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
      228149930..228159826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      227338927..227348822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)