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

Gene ID: 57369, updated on 2-Nov-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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