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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GJA5
gap junction protein alpha 5
Chromosome 1 Β· 1q21.2
NCBI Gene: 2702Ensembl: ENSG00000265107.4HGNC: HGNC:4279UniProt: P36382
102PubMed Papers
22Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of atrial cardiac muscle cell membrane depolarizationcell communication by electrical coupling involved in cardiac conductionbundle of His cell to Purkinje myocyte communication by electrical couplingAV node cell to bundle of His cell communication by electrical couplingfamilial atrial fibrillationatrial fibrillationAtrial stand stillatrial flutter
✦AI Summary

GJA5 (gap junction protein alpha 5, connexin 40) encodes a transmembrane protein that forms gap junction channels enabling low-resistance intercellular communication essential for coordinated cardiac electrical activity 1. The protein assembles into connexon pairs that allow rapid propagation of action potentials through the myocardium, supporting normal conduction velocity in atria and ventricles 2. GJA5 expression is regulated by pulsatile hemodynamic shear stress and is specifically restricted to arterial endothelium, where it promotes flow-driven arteriogenesis and vascular remodeling 1. During cardiac pressure overload, GJA5 expression is downregulated alongside other rapid conduction genes, contributing to atrial electrical remodeling and arrhythmia susceptibility 3. Clinically, GJA5 mutations cause atrial fibrillation through impaired gap junction trafficking, reduced channel function, or pathological hemichannel gain-of-function 2. Polymorphisms in GJA5 are associated with sudden cardiac death risk in women 4 and essential hypertension 5. The gene also participates in vascular wall remodeling during atherosclerosis, with connexin-based therapeutic strategies under investigation 6. Additionally, GJA5 expression is regulated by NOTCH1 signaling in valve endothelium, linking gap junction function to vascular calcification prevention 7.

Sources cited
1
GJA5 expression is confined to arteries, regulated by pulsatile shear flow, and plays a functional role in flow-driven arteriogenesis
PMID: 20530546
2
GJA5 mutations cause atrial fibrillation through impaired gap junction trafficking, channel formation, or hemichannel dysfunction
PMID: 24656738
3
GJA5 expression is downregulated in left atrium during cardiac pressure overload, contributing to electrical and structural remodeling
PMID: 33225722
4
GJA5 polymorphism rs35594137 is significantly associated with sudden cardiac death risk, particularly in women
PMID: 28577096
5
Novel GJA5 promoter variant -26A>G confers increased risk for essential hypertension through reduced promoter activity
PMID: 36915790
6
Connexin expression patterns are altered during atherosclerotic plaque formation and restenosis, with connexin-based therapeutic strategies under investigation
PMID: 16646596
7
GJA5/connexin 40 expression is regulated by NOTCH1 signaling in aortic valve endothelium
PMID: 25871831
Disease Associationsβ“˜22
familial atrial fibrillationOpen Targets
0.72Strong
atrial fibrillationOpen Targets
0.60Moderate
Atrial stand stillOpen Targets
0.55Moderate
atrial flutterOpen Targets
0.35Weak
cardioembolic strokeOpen Targets
0.29Weak
cardiac arrhythmiaOpen Targets
0.26Weak
chronic obstructive pulmonary diseaseOpen Targets
0.25Weak
diabetic ketoacidosisOpen Targets
0.19Weak
genetic disorderOpen Targets
0.19Weak
liver diseaseOpen Targets
0.19Weak
ovarian dysfunctionOpen Targets
0.19Weak
Loss of consciousnessOpen Targets
0.19Weak
adolescent idiopathic scoliosisOpen Targets
0.18Weak
1q21.1 microdeletion syndromeOpen Targets
0.15Weak
chromosome 1q21.1 deletion syndromeOpen Targets
0.15Weak
hypertrophic cardiomyopathyOpen Targets
0.14Weak
Wolff-Parkinson-White SyndromeOpen Targets
0.13Weak
Familial progressive cardiac conduction defectOpen Targets
0.11Weak
Romano-Ward syndromeOpen Targets
0.11Weak
Brugada syndromeOpen Targets
0.10Weak
Atrial fibrillation, familial, 11UniProt
Atrial standstill 1UniProt
Pathogenic Variants7
NM_181703.4(GJA5):c.23del (p.Gly8fs)Pathogenic
Atrial fibrillation, familial, 11;Atrial standstill 1
β˜…β˜†β˜†β˜†2025β†’ Residue 8
NM_181703.4(GJA5):c.3G>A (p.Met1Ile)Pathogenic
Atrial standstill 1;Atrial fibrillation, familial, 11
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_181703.4(GJA5):c.685C>A (p.Leu229Met)Pathogenic
Atrial fibrillation, familial, 11
β˜†β˜†β˜†β˜†2013β†’ Residue 229
NM_181703.4(GJA5):c.661C>A (p.Leu221Ile)Pathogenic
Atrial fibrillation, familial, 11
β˜†β˜†β˜†β˜†2010β†’ Residue 221
NM_181703.4(GJA5):c.145C>T (p.Gln49Ter)Pathogenic
Atrial fibrillation, familial, 11
β˜†β˜†β˜†β˜†2010β†’ Residue 49
NM_181703.4(GJA5):c.253G>A (p.Val85Ile)Pathogenic
Atrial fibrillation, familial, 11
β˜†β˜†β˜†β˜†2010β†’ Residue 85
NM_181703.4(GJA5):c.262C>T (p.Pro88Ser)Pathogenic
Atrial fibrillation, somatic
β˜†β˜†β˜†β˜†2006β†’ Residue 88
View on ClinVar β†—
Related Genes
GJA4Protein interaction100%GJA8Protein interaction100%CLDN5Protein interaction83%GJB4Protein interaction74%GJA3Protein interaction74%TBX3Protein interaction73%
Tissue Expression6 tissues
Heart
100%
Lung
51%
Ovary
8%
Brain
5%
Liver
4%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GJA5GJA4GJA8CLDN5GJB4GJA3TBX3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P36382
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.50Intermediate
Observed/Expected LoF0.36 [0.19–0.77]
RankingsWhere GJA5 stands among ~20K protein-coding genes
  • #4,677of 20,598
    Most Researched102 Β· top quartile
  • #3,185of 5,498
    Most Pathogenic Variants7
  • #6,163of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedGJA5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
1.00
2
Association of Polymorphism in SCN5A, GJA5, and KCNN3 Gene with Sudden Cardiac Death.
PMID: 28577096
Bull Exp Biol Med Β· 2017
0.90
3
Connexins in atherosclerosis.
PMID: 16646596
Adv Cardiol Β· 2006
0.80
4
Pulsatile shear and Gja5 modulate arterial identity and remodeling events during flow-driven arteriogenesis.
PMID: 20530546
Development Β· 2010
0.70
5
Cardiac Pressure Overload Decreases ETV1 Expression in the Left Atrium, Contributing to Atrial Electrical and Structural Remodeling.
PMID: 33225722
Circulation Β· 2021
0.60