GJA5
Identifiers
Aliases	GJA5, ATFB11, CX40, gap junction protein alpha 5
External IDs	OMIM: 121013 MGI: 95716 HomoloGene: 3856 GeneCards: GJA5
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.2 Start 147,756,199 bp[1] End 147,773,362 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.1|3 42.04 cM Start 96,812,009 bp[2] End 96,984,732 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in placenta right coronary artery left coronary artery lower lobe of lung popliteal artery upper lobe of lung upper lobe of left lung ascending aorta visceral pleura right lung Top expressed in yolk sac vascular endothelium footplate atrium abdominal aorta vein vena cava entorhinal cortex cardiac septum interventricular septum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function gap junction channel activity involved in cardiac conduction electrical coupling gap junction channel activity gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling gap junction hemi-channel activity gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling disordered domain specific binding connexin binding Cellular component integral component of membrane cell projection membrane intercalated disc plasma membrane integral component of plasma membrane cell junction gap junction connexin complex Biological process bundle of His cell to Purkinje myocyte communication by electrical coupling skeletal system development regulation of ventricular cardiac muscle cell membrane depolarization cardiac conduction system development ventricular septum development negative regulation of blood pressure ventricular septum morphogenesis SA node cell action potential AV node cell to bundle of His cell communication regulation of atrial cardiac muscle cell membrane depolarization ventricular cardiac muscle cell action potential cell communication by electrical coupling involved in cardiac conduction outflow tract morphogenesis atrial ventricular junction remodeling cell communication by electrical coupling mitral valve development pulmonary valve formation embryonic heart tube development regulation of Purkinje myocyte action potential atrial septum morphogenesis cell communication potassium ion transport regulation of bundle of His cell action potential heart development regulation of renin secretion into blood stream blood vessel development cardiac conduction embryonic limb morphogenesis protein complex oligomerization AV node cell to bundle of His cell communication by electrical coupling positive regulation of vasoconstriction angiogenesis artery morphogenesis transmembrane transport endothelium development renal system process involved in regulation of systemic arterial blood pressure regulation of systemic arterial blood pressure gap junction assembly positive regulation of cell communication by chemical coupling cell communication involved in cardiac conduction regulation of cardiac muscle contraction septum primum development regulation of heart rate by cardiac conduction regulation of AV node cell action potential negative regulation of glomerular filtration atrial septum development vasomotion foramen ovale closure cell communication by chemical coupling regulation of atrial cardiac muscle cell action potential regulation of ventricular cardiac muscle cell membrane repolarization regulation of membrane depolarization during cardiac muscle cell action potential SA node cell to atrial cardiac muscle cell communication by electrical coupling atrial cardiac muscle cell to AV node cell communication by electrical coupling Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling blood vessel diameter maintenance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2702 14613 Ensembl ENSG00000265107 ENSMUSG00000057123 UniProt P36382 Q01231 RefSeq (mRNA) NM_005266 NM_181703 NM_001271628 NM_008121 RefSeq (protein) NP_005257 NP_859054 NP_001258557 NP_032147 Location (UCSC) Chr 1: 147.76 – 147.77 Mb Chr 3: 96.81 – 96.98 Mb PubMed search [3] [4]
Wikidata
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Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

Function

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.^[5]

GJA5 has been identified as the gene that is responsible for the phenotypes observed with congenital heart diseases on the 1q21.1 location. In case of a duplication of GJA5 tetralogy of Fallot is more common. In case of a deletion other congenital heart diseases than tetralogy of Fallot are more common.^[6]

Related gene problems

• 1q21.1 deletion syndrome
• 1q21.1 duplication syndrome