Search for a gene
KCNJ11 - potassium voltage-gated channel subfamily J member 11
- Synonym(s) : BIR, Kir6.2
- Previous symbols and names : potassium inwardly-rectifying channel, subfamily J, member 11
- Type : gene with protein product
- Chromosomal location : 11p15.1
- OMIM: 600937
- HGNC: 6257
- UniProtKB: Q14654
- Genatlas: KCNJ11
- Ensembl: ENSG00000187486
- IUPHAR-DB: 442
- Reactome: Q14654
- LOVD: KCNJ11
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Disease-causing germline mutation(s) in Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Disease-causing germline mutation(s) in Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
- Disease-causing germline mutation(s) in MODY
- Disease-causing germline mutation(s) in Permanent neonatal diabetes mellitus
- Disease-causing germline mutation(s) in Transient neonatal diabetes mellitus
- Disease-causing germline mutation(s) (gain of function) in DEND syndrome
- Disease-causing germline mutation(s) (gain of function) in Intermediate DEND syndrome
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.