KCNH2

potassium voltage-gated channel subfamily H member 2

4 disorders 2 no genetic record 1 causative 1 untyped 7q36.1 gene with protein product

HGNC:6251 Monarch NCBI Gene 3757 ENSG00000055118 UniProt Q12809 OMIM 152427

Previous symbols: LQT2. Aliases: Kv11.1, HERG, erg1.

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
Familial Long QT Syndrome	causative	mechanism: QT-Prolonging Drug Unmasking of Reduced Repolarization Reserve; Reduced Repolarizing Potassium Current subtype: Type 2 computational model: CiPA IKr-Dynamic ORd Proarrhythmia Model; O'Hara-Rudy (ORd) Human Ventricular Action Potential Model; ToR-ORd Human Ventricular Myocyte Model scoped to subtype: Type 2
Short QT Syndrome	untyped Causative	mechanism: Ion-channel gain- and loss-of-function variants subtype: SQTS1 scoped to subtype: SQTS1
Acute Tricyclic Antidepressant Poisoning	no genetic record	mechanism: hERG Potassium Channel Blockade
Cocaine Intoxication	no genetic record	mechanism: hERG Potassium Channel Blockade

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	Definitive 2020-08-03	Short QT Syndrome untyped
long QT syndrome MONDO:0002442	AD	Definitive 2018-09-25	no dismech entry
Brugada syndrome MONDO:0015263	AD	Disputed 2025-06-10	Brugada syndrome not named

Mechanism modules · computed from kb/

cardiac_ion_channel_repolarization via Familial Long QT Syndrome, Short QT Syndrome named in the module itself
xenobiotic_cardiac_channel_perturbation via Acute Tricyclic Antidepressant Poisoning, Cocaine Intoxication, Familial Long QT Syndrome

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