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

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; 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

Location:: 15q14

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (34751032..34754998, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (32556224..32560189, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (35043233..35047199, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel.
Title: Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel.
Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors.
Title: Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors.
The Role of GJD2(Cx36) in Refractive Error Development.
Title: The Role of GJD2(Cx36) in Refractive Error Development.
Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
Title: Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CX36_4658 (e-PCR)
- UniSTS:462849

NoName (e-PCR)
- UniSTS:483341

NoName (e-PCR)
- UniSTS:480800

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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

34751032..34754998 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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