| GENE NAME | KCNH2 |
| CHROMOSOME | 7 |
| ENSEMBL ID | ENSG00000055118 |
| ENTREZ ID | 3757 |
| UNIPROT ACCESSION NUMBER | Q12809 |
| GO MOLECULAR FUNCTION | delayed rectifier potassium channel activity; protein homodimerization activity; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; scaffold protein binding; protein binding; transcription cis-regulatory region binding; identical protein binding; voltage-gated potassium channel activity; inward rectifier potassium channel activity; ubiquitin protein ligase binding; C3HC4-type RING finger domain binding; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1296071; R-HSA-1296072; R-HSA-112316; R-HSA-397014; R-HSA-5576891; R-HSA-5576890 |
| 17 combinations linked to KCNH2 | OLI551; OLI549; OLI1226; OLI459; OLI550; OLI096; OLI1222; OLI363; OLI362; OLI1223; OLI1225; OLI1221; OLI361; OLI1220; OLI985; OLI1224; OLI218 |
| 16 variants linked to KCNH2 | KCNH2:c.921_923del, p.307_308del; KCNH2:c.2592+1G>A, ; KCNH2:c.3092_3096dup, p.Arg1033ValfsTer26; KCNH2:c.2775dup, p.Pro926AlafsTer14; KCNH2:c.2842C>T, p.Arg948Cys; KCNH2:c.298C>G, p.Arg100Gly; KCNH2:p.Ala913Val; KCNH2:c.323G>A, p.Cys108Tyr; KCNH2:c.2690A>C, p.Lys897Thr; KCNH2:c.2764C>T, p.Arg922Trp; KCNH2:c.1682C>T, p.Ala561Val; KCNH2:c.2582A>C, p.Asn861Thr; KCNH2:c.132C>A, p.Cys44Ter; KCNH2:c.1933A>C, p.Met645Leu; KCNH2:c.1825G>A, p.Asp609Asn; KCNH2:c.934C>T, p.Arg312Cys |
| 1 disease linked to KCNH2 | Familial long QT syndrome |