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GJA5 gap junction protein, alpha 5, 40kDa [ Homo sapiens (human) ]

Gene ID: 2702, updated on 19-Jul-2014
Official Symbol
GJA5provided by HGNC
Official Full Name
gap junction protein, alpha 5, 40kDaprovided by HGNC
Primary source
HGNC:4279
See related
Ensembl:ENSG00000143140; HPRD:08699; MIM:121013
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]
See GJA5 in Epigenomics, MapViewer
Location:
1q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (147756199..147781054, 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 B-cell CLL/lymphoma 9 Neighboring gene acid phosphatase 6, lysophosphatidic Neighboring gene uncharacterized LOC102723321 Neighboring gene PRAME family member 17 pseudogene Neighboring gene gap junction protein, alpha 8, 50kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Atrial fibrillation, familial, 11
MedGen: C3279693 OMIM: 614049 GeneReviews: Not available
Compare labs
Atrial standstill
MedGen: C1838539 OMIM: 108770 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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...
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
 
SA node cell action potential IEA
Inferred from Electronic Annotation
more info
 
angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
 
atrial septum development IMP
Inferred from Mutant Phenotype
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
 
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
 
gap junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitral valve development IMP
Inferred from Mutant Phenotype
more info
 
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
 
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
 
positive regulation of vasodilation IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
protein oligomerization IEA
Inferred from Electronic Annotation
more info
 
pulmonary valve formation IMP
Inferred from Mutant Phenotype
more info
 
regulation of atrial cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
 
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 IDA
Inferred from Direct Assay
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
 
ventricular septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
connexon complex IDA
Inferred from Direct Assay
more info
 
gap junction IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc TAS
Traceable Author Statement
more info
 
Preferred Names
gap junction alpha-5 protein
Names
gap junction alpha-5 protein
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 

    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 proteins identical to 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
    ENSP00000271348, ENST00000271348
    Conserved Domains (2) summary
    pfam00029
    Location:3109
    Blast Score: 581
    Connexin; Connexin
    pfam10582
    Location:163211
    Blast Score: 238
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
  2. NM_181703.3NP_859054.1  gap junction alpha-5 protein

    See proteins identical to 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
    Conserved Domains (2) summary
    pfam00029
    Location:3109
    Blast Score: 581
    Connexin; Connexin
    pfam10582
    Location:163211
    Blast Score: 238
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    147756199..147781054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272951.2XP_005273008.1  

    See proteins identical to XP_005273008.1

    UniProtKB/Swiss-Prot
    P36382
    UniProtKB/TrEMBL
    X5D2H9
    Conserved Domains (2) summary
    pfam00029
    Location:3109
    Blast Score: 581
    Connexin; Connexin
    pfam10582
    Location:163211
    Blast Score: 238
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    120641850..120658997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    149124325..149141488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)