KCNJ2

potassium inwardly rectifying channel subfamily J member 2

5 disorders 3 causative 2 untyped 17q24.3 gene with protein product

HGNC:6263 Monarch NCBI Gene 3759 ENSG00000123700 UniProt P63252 OMIM 600681

Aliases: Kir2.1, IRK1, LQT7.

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
Andersen-Tawil Syndrome	causative	mechanism: KCNJ2 Loss-of-Function Variant
Cooks Syndrome	causative de novogermline	mechanism: Alternative Translocation Affecting KCNJ2 Regulation; Boundary-Crossing Duplication at 17q24.3; Ectopic KCNJ2 Expression in Developing Digits; Neo-TAD Formation and Ectopic KCNJ2 Enhancer Contact variant: POSTRE Table 1 Nr3 17q24.3 duplication
Familial Atrial Fibrillation	causative germline	mechanism: Atrial Ion-Channel or Coupling Variant; Shortened Atrial Action Potential and Refractoriness subtype: KCNJ2-related scoped to subtype: KCNJ2-related
Familial Long QT Syndrome	untyped Pathogenic Variants	subtype: Other rare-gene familial LQTS scoped to subtype: Other rare-gene familial LQTS
Short QT Syndrome	untyped Causative	mechanism: Ion-channel gain- and loss-of-function variants subtype: SQTS3 scoped to subtype: SQTS3

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
short QT syndrome MONDO:0000453	AD	Moderate 2020-10-27	Short QT Syndrome untyped
long QT syndrome MONDO:0002442	AD	Limited 2020-12-15	no dismech entry
congenital heart disease MONDO:0005453	UD	No Known Disease Relationship 2024-10-15	Congenital Heart Disease not named
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990	AD	Disputed 2021-01-20	RYR2 CPVT not named

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via Andersen-Tawil Syndrome, Familial Atrial Fibrillation, Short QT Syndrome

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