Format

Send to:

Choose Destination

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

Gene ID: 57369, updated on 24-Nov-2020

Summary

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
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

Genomic context

See GJD2 in Genome Data Viewer
Location:
15q14
Exon count:
2
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (34751032..34754998, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (35044642..35046782, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12620 Neighboring gene long intergenic non-protein coding RNA 2252 Neighboring gene uncharacterized LOC101928174 Neighboring gene heart enhancer 26 Neighboring gene actin alpha cardiac muscle 1

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
GeneReviews: Not available
Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
GeneReviews: Not available
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
GeneReviews: Not available
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.
GeneReviews: Not available
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138315, MGC138319

Gene Ontology Provided by GOA

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

General protein information

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)

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_020660.3NP_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
    Q9UKL4
    Related
    ENSP00000290374.4, ENST00000290374.5
    Conserved Domains (1) summary
    pfam00029
    Location:3277
    Connexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam00029
    Location:1226
    Connexin
Support Center