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    GJD2 gap junction protein delta 2 [ Homo sapiens (human) ]

    Gene ID: 57369, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GJD2provided by HGNC
    Official Full Name
    gap junction protein delta 2provided by HGNC
    Primary source
    HGNC:HGNC:19154
    See related
    Ensembl:ENSG00000159248 MIM:607058; AllianceGenome:HGNC:19154
    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
    CX36; GJA9
    Summary
    This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
    Expression
    Biased expression in adrenal (RPKM 3.4), brain (RPKM 0.8) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GJD2 in Genome Data Viewer
    Location:
    15q14
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (34751032..34754998, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (32556224..32560189, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (35043233..35047199, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2252 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:34974212-34975411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:35013869-35014370 Neighboring gene uncharacterized LOC124903463 Neighboring gene GJD2 divergent transcript Neighboring gene heart enhancer 26 Neighboring gene uncharacterized LOC107984776 Neighboring gene actin alpha cardiac muscle 1

    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 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. Molecular basis for potentiation of Cx36 gap junction channel conductance by n-alcohols and general anesthetics. Raškevičius V, et al. Biosci Rep, 2018 Feb 28. PMID 29298877, Free PMC Article
    2. Neurons and β-cells of the pancreas express connexin36, forming gap junction channels that exhibit strong cationic selectivity. Bukauskas FF. J Membr Biol, 2012 Jun. PMID 22752717, Free PMC Article
    3. [Cellular communication and regulation of insulin in the cell]. Meda P. Bull Mem Acad R Med Belg, 2010. PMID 22288100
    4. The neuronal connexin36 interacts with and is phosphorylated by CaMKII in a way similar to CaMKII interaction with glutamate receptors. Alev C, et al. Proc Natl Acad Sci U S A, 2008 Dec 30. PMID 19095792, Free PMC Article
    5. Characterization of connexin36 gap junctions in the human outer retina. Kántor O, et al. Brain Struct Funct, 2016 Jul. PMID 26173976

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM.
      Title: Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM.
    2. Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction.
      Title: Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction.
    3. Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel.
      Title: Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel.
    4. Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors.
      Title: Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors.
    5. The Role of GJD2(Cx36) in Refractive Error Development.
      Title: The Role of GJD2(Cx36) in Refractive Error Development.
    6. Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
      Title: Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
    7. a possible contribution of connexin 36 to amyotrophic lateral sclerosis pathogenesis
      Title: A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis.
    8. Our findings suggest that the stimulatory effect of hexanol and isoflurane on Cx36 gap junction conductance could be achieved by re-shuffling of the inter-subunit disulphide bond between C264 and C92 to the intra-subunit one between C264 and C87.
      Title: Molecular basis for potentiation of Cx36 gap junction channel conductance by n-alcohols and general anesthetics.
    9. Our studies have shown that the heritability of myopia makes 66.4% in Lithuania. We detected significant associations between the combinations of GJD2 CC and RASGRF1 GT and odds ratio of developing myopia.
      Title: Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania.
    10. Study shows that human outer retina displays a diverse cohort of connexin 36 gap junctions that follows the general mammalian scheme and display a great functional diversity.
      Title: Characterization of connexin36 gap junctions in the human outer retina.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
    EBI GWAS Catalog
    Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
    EBI GWAS Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog
    Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    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

    • MGC138315, MGC138319

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuronal action potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gap junction delta-2 protein
    Names
    connexin-36
    gap junction alpha-9 protein
    gap junction protein, delta 2, 36kDa

    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.

    mRNA and Protein(s)

    1. NM_020660.3 → NP_065711.1  gap junction delta-2 protein

      See identical proteins and their annotated locations for NP_065711.1

      Status: REVIEWED

      Source sequence(s)
      AC087457, BC112110
      Consensus CDS
      CCDS10040.1
      UniProtKB/Swiss-Prot
      Q2M241, Q9P2R0, Q9UKL4
      UniProtKB/TrEMBL
      B7ZLG3
      Related
      ENSP00000290374.4, ENST00000290374.5
      Conserved Domains (1) summary
      pfam00029
      Location:3 → 277
      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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      34751032..34754998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022438.2 → XP_016877927.1  gap junction delta-2 protein isoform X1

      UniProtKB/TrEMBL
      A0A654IE23, B7ZLG3
      Conserved Domains (1) summary
      pfam00029
      Location:1 → 226
      Connexin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      32556224..32560189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378514.1 → XP_054234489.1  gap junction delta-2 protein isoform X1

      UniProtKB/TrEMBL
      A0A654IE23
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKL4.1 GenPept UniProtKB/Swiss-Prot:Q9UKL4

    Gene LinkOut

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

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