GJA5

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]

Full Name

Gap Junction Protein Alpha 5

Function

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Biological Process

Angiogenesis Source: UniProtKB
Artery morphogenesis Source: BHF-UCL
Atrial cardiac muscle cell to AV node cell communication by electrical coupling Source: BHF-UCL
Atrial septum development Source: BHF-UCL
AV node cell to bundle of His cell communication by electrical coupling Source: BHF-UCL
Bundle of His cell to Purkinje myocyte communication by electrical coupling Source: BHF-UCL
Cardiac conduction system development Source: BHF-UCL
Cell-cell signaling Source: GO_Central
Cell communication by chemical coupling Source: Ensembl
Cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
Endothelium development Source: Ensembl
Gap junction assembly Source: BHF-UCL
Mitral valve development Source: BHF-UCL
Negative regulation of blood pressure Source: Ensembl
Negative regulation of glomerular filtration Source: Ensembl
Outflow tract morphogenesis Source: BHF-UCL
Positive regulation of cell communication by chemical coupling Source: Ensembl
Positive regulation of vasoconstriction Source: Ensembl
Potassium ion transport Source: Ensembl
Pulmonary valve formation Source: BHF-UCL
Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling Source: BHF-UCL
Regulation of atrial cardiac muscle cell action potential Source: BHF-UCL
Regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
Regulation of AV node cell action potential Source: BHF-UCL
Regulation of bundle of His cell action potential Source: BHF-UCL
Regulation of cardiac muscle contraction Source: BHF-UCL
Regulation of cell communication by electrical coupling Source: Ensembl
Regulation of Purkinje myocyte action potential Source: BHF-UCL
Regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
Regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
SA node cell to atrial cardiac muscle cell communication by electrical coupling Source: BHF-UCL
Vasodilation Source: Ensembl
Vasomotion Source: Ensembl
Ventricular septum development Source: BHF-UCL

Cellular Location

Cell membrane; Gap junction

Involvement in disease

Atrial standstill 1 (ATRST1):
The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill. A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.
Atrial fibrillation, familial, 11 (ATFB11):
A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Topology

Cytoplasmic: 1-19
Helical: 20-40
Extracellular: 41-76
Helical: 77-97
Cytoplasmic: 98-164
Helical: 165-185
Extracellular: 186-205
Helical: 206-226
Cytoplasmic: 227-358