GJA5

gap junction protein alpha 5

2 disorders 1 modifier 1 causative 1q21.2 gene with protein product

HGNC:4279 Monarch NCBI Gene 2702 ENSG00000265107 UniProt P36382 OMIM 121013

Aliases: CX40.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Atrial Standstill	modifier germline	mechanism: Connexin 40 Modifier of Atrial Conduction Reserve
Familial Atrial Fibrillation	causative germline and somatic	mechanism: Atrial Gap-Junction Coupling Defect; Atrial Ion-Channel or Coupling Variant subtype: GJA5-related scoped to subtype: GJA5-related

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
congenital heart disease MONDO:0005453	AD	Disputed 2024-04-02	Congenital Heart Disease not named

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via Familial Atrial Fibrillation

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.