GJA4 gap junction protein alpha 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJA4provided by HGNC
Official Full Name: gap junction protein alpha 4provided by HGNC
Primary source: HGNC:HGNC:4278
See related: Ensembl:ENSG00000187513 MIM:121012; AllianceGenome:HGNC:4278
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: CX37
Summary: This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 24.9), fat (RPKM 18.0) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (34792999..34795747)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (34655628..34658374)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (35258600..35261348)

Chromosome 1 - NC_000001.11 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?

Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.
Title: Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.
Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.
Title: Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Title: Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.
Title: A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.
Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.
Title: Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.
Title: The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.
The role of connexin 37 polymorphism in spontaneous abortion.
Title: The role of connexin 37 polymorphism in spontaneous abortion.
Our data demonstrate that Cx37 expression is differentially regulated by shear stress and SMAD1/5 signaling, and that reduced Cx37 expression is permissive for capillary enlargement into shunts.
Title: Impaired SMAD1/5 Mechanotransduction and Cx37 (Connexin37) Expression Enable Pathological Vessel Enlargement and Shunting.
interaction with PDE4D gene polymorphisms and susceptibility to ischemic stroke in Chinese population
Title: Interaction between CONNEXIN37 and PDE4D gene polymorphisms with susceptibility to ischemic stroke in Chinese population.
Cx37 SNP rs1764391 may contribute to the risk for acute myocardial infarction (AMI), especially in women. This genetic variant may prove to be a potential biomarker for AMI risk stratification and may prove to be a useful target for therapeutic intervention to further improve prognosis in high-risk patients.
Title: Relationship between SNP rs1764391 and Susceptibility, Risk Factors, Gene-environment Interactions of Acute Myocardial Infarction in Guangxi Han Chinese Population.

Submit: New GeneRIF Correction See all GeneRIFs (61)

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
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. 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

GJA4_1678 (e-PCR)
- UniSTS:277282

GJA4 (e-PCR)
- UniSTS:266347

D1S3523 (e-PCR)
- UniSTS:55166

SHGC-74583 (e-PCR)
- UniSTS:15007

PMC197251P2 (e-PCR)
- UniSTS:271851

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in cell-cell junction assembly	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endothelium development	IEA Inferred from Electronic Annotation more info
involved_in response to pain	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	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 gap junction	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gap junction alpha-4 protein

Names: connexin-37; gap junction protein, alpha 4, 37kDa

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.