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GJA5 gap junction protein alpha 5 [ Homo sapiens (human) ]

Gene ID: 2702, updated on 3-Jun-2018
Official Symbol
GJA5provided by HGNC
Official Full Name
gap junction protein alpha 5provided by HGNC
Primary source
HGNC:HGNC:4279
See related
Ensembl:ENSG00000265107 MIM:121013; Vega:OTTHUMG00000014020
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
CX40; ATFB11
Summary
This gene is 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 may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in placenta (RPKM 23.7), lung (RPKM 11.2) and 11 other tissues See more
Orthologs
See GJA5 in Genome Data Viewer
Location:
1q21.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (147756199..147781127, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147228332..147253165, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723321 Neighboring gene uncharacterized LOC105371230 Neighboring gene VISTA enhancer hs2126 Neighboring gene PRAME family member 17 pseudogene Neighboring gene uncharacterized LOC105371229 Neighboring gene gap junction protein alpha 8

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
1q21.1 recurrent microdeletion
MedGen: C2675897 OMIM: 612474 GeneReviews: 1q21.1 Recurrent Microdeletion
Compare labs
Atrial fibrillation, familial, 11
MedGen: C3279693 OMIM: 614049 GeneReviews: Not available
Compare labs
Atrial standstill 1
MedGen: C1838539 OMIM: 108770 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-23)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2012-02-23)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
NHGRI GWA Catalog
  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystem (from WikiPathways)
    NOTCH1 regulation of human endothelial cell calcification, organism-specific biosystemModel of NOTCH1 regulation of human endothelial cell calcification.
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC11185

Gene Ontology Provided by GOA

Process Evidence Code Pubs
AV node cell to bundle of His cell communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
SA node cell action potential IEA
Inferred from Electronic Annotation
more info
 
SA node cell to atrial cardiac muscle cell communication by electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrial cardiac muscle cell to AV node cell communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial cardiac muscle cell to AV node cell communication by electrical coupling NAS
Non-traceable Author Statement
more info
PubMed 
atrial septum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
atrial septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
atrial ventricular junction remodeling IEA
Inferred from Electronic Annotation
more info
 
bundle of His cell to Purkinje myocyte communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac conduction system development IEA
Inferred from Electronic Annotation
more info
 
cell communication by chemical coupling IEA
Inferred from Electronic Annotation
more info
 
cell communication by electrical coupling involved in cardiac conduction IDA
Inferred from Direct Assay
more info
PubMed 
embryonic heart tube development IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endothelium development IEA
Inferred from Electronic Annotation
more info
 
foramen ovale closure IEA
Inferred from Electronic Annotation
more info
 
gap junction assembly IDA
Inferred from Direct Assay
more info
PubMed 
gap junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitral valve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
negative regulation of glomerular filtration IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of blood vessel diameter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell communication by chemical coupling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
protein complex oligomerization IEA
Inferred from Electronic Annotation
more info
 
pulmonary valve formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Purkinje myocyte action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of atrial cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of bundle of His cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of heart rate by cardiac conduction IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane depolarization during cardiac muscle cell action potential IEA
Inferred from Electronic Annotation
more info
 
regulation of renin secretion into blood stream IEA
Inferred from Electronic Annotation
more info
 
regulation of ventricular cardiac muscle cell membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
regulation of ventricular cardiac muscle cell membrane repolarization IEA
Inferred from Electronic Annotation
more info
 
septum primum development IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
vasomotion IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle cell action potential IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
connexin complex IDA
Inferred from Direct Assay
more info
PubMed 
connexin complex ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
gap junction IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
gap junction alpha-5 protein
Names
connexin 40
gap junction protein alpha 5 40kDa

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.

Genomic

  1. NG_009369.2 RefSeqGene

    Range
    5013..22176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005266.6NP_005257.2  gap junction alpha-5 protein

    See identical proteins and their annotated locations for NP_005257.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longer transcript. Variants A and B encode the same protein.
    Source sequence(s)
    AF074995, BC013313, BM970701, BQ924948, DR003194
    Consensus CDS
    CCDS929.1
    UniProtKB/Swiss-Prot
    P36382
    UniProtKB/TrEMBL
    X5D2H9
    Related
    ENSP00000484552.1, ENST00000621517.1
    Conserved Domains (2) summary
    pfam00029
    Location:3211
    Connexin; Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain
  2. NM_181703.3NP_859054.1  gap junction alpha-5 protein

    See identical proteins and their annotated locations for NP_859054.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 5' UTR compared to variant A. Variants A and B encode the same protein.
    Source sequence(s)
    AF074995, BC013313, BM970701, BX377692
    Consensus CDS
    CCDS929.1
    UniProtKB/Swiss-Prot
    P36382
    UniProtKB/TrEMBL
    X5D2H9
    Related
    ENSP00000463851.1, OTTHUMP00000276933, ENST00000579774.2, OTTHUMT00000039422
    Conserved Domains (2) summary
    pfam00029
    Location:3211
    Connexin; Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    147756199..147781127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272951.4XP_005273008.1  gap junction alpha-5 protein isoform X1

    See identical proteins and their annotated locations for XP_005273008.1

    UniProtKB/Swiss-Prot
    P36382
    UniProtKB/TrEMBL
    X5D2H9
    Conserved Domains (2) summary
    pfam00029
    Location:3211
    Connexin; Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain
  2. XM_017001044.1XP_016856533.1  gap junction alpha-5 protein isoform X1

    UniProtKB/Swiss-Prot
    P36382
    UniProtKB/TrEMBL
    X5D2H9
    Conserved Domains (2) summary
    pfam00029
    Location:3211
    Connexin; Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain
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