AlphaFold predicted structure
KCNH2 · Q12809
Mean pLDDT
62.8/ 100
Low
1,159 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)23%
- Low(50–70)5%
- Very low(< 50)45%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KCNH2
Chr 7q36.1potassium voltage-gated channel subfamily H member 2
- Aliases:
- Kv11.1, HERG, erg1
- MANE:
- ENST00000262186.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedShort QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBrugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal hydrops
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Romano-Ward syndrome
0.86Familial short QT syndrome
0.78atrial fibrillation
0.73cardiac arrhythmia
0.73Prolonged QT interval
0.71familial long QT syndrome
0.68ventricular fibrillation
0.68ventricular tachycardia
0.62atrial flutter
0.60multiple sclerosis
0.59
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Voltage-gated inwardly rectifying potassium channel KCNH2
Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:26363003, PubMed:27916661, PubMed:9230439, PubMed:9351446, PubMed:9765245). Channel properties are modulated by cAMP and subunit assembly (PubMed:10837251). Characterized by unusual gating kinetics by producing relatively small outward currents during membrane depolarization and large inward currents during subsequent repolarization which reflect a rapid inactivation during depolarization and quick recovery from inactivation but slow deactivation (closing) during repolarization (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:26363003, PubMed:27916661, PubMed:9230439, PubMed:9351446, PubMed:9765245). Forms a stable complex with KCNE1 or KCNE2, and that this heteromultimerization regulates inward rectifier potassium channel activity (PubMed:10219239, PubMed:9230439)
Diseases associated with KCNH2
Curated MONDO disease pages that list KCNH2 among their top associated genes.