KCNH2
entrez
3757
canonical
uniprot
Q12809
canonical
ensembl
ENSG00000055118
resolver
ensp
ENSP00000262186
resolver
ensp
ENSP00000328531
resolver
ensp
ENSP00000519004
resolver
enst
ENST00000713701
resolver
genesymbol
KCNH2
resolver
genesymbol_syn
ERG
resolver
genesymbol_syn
ERG1
resolver
genesymbol_syn
HERG
resolver
hgnc
HGNC:6251
resolver
uniprot
A0AAQ5BGQ9
resolver
uniprot
A5H1P7
resolver
uniprot
C4PFH9
resolver
uniprot
D3DX04
resolver
uniprot
O75418
resolver
uniprot
O75680
resolver
uniprot
Q15BH2
resolver
uniprot
Q708S9
resolver
uniprot
Q9BT72
resolver
uniprot
Q9BUT7
resolver
uniprot
Q9H3P0
resolver
uniprot_entry
A0AAQ5BGQ9_HUMAN
resolver
uniprot_entry
KCNH2_HUMAN
resolver
uniprot_entry
Q15BH2_HUMAN
resolver
uniprot_sec
A5H1P7
resolver
uniprot_sec
C4PFH9
resolver
uniprot_sec
D3DX04
resolver
uniprot_sec
O75418
resolver
uniprot_sec
O75680
resolver
uniprot_sec
Q708S9
resolver
uniprot_sec
Q9BT72
resolver
uniprot_sec
Q9BUT7
resolver
uniprot_sec
Q9H3P0
resolver
amino_acid_sequence
MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEPLMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVESRLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEELPPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS
uniprot
proteins
disease_involvement
DISEASE: Long QT syndrome 2 (LQT2) [MIM:613688]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. {ECO:0000269|PubMed:10086971, ECO:0000269|PubMed:10187793, ECO:0000269|PubMed:10220144, ECO:0000269|PubMed:10517660, ECO:0000269|PubMed:10735633, ECO:0000269|PubMed:10744792, ECO:0000269|PubMed:10753933, ECO:0000269|PubMed:10862094, ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:11170080, ECO:0000269|PubMed:12062363, ECO:0000269|PubMed:12354768, ECO:0000269|PubMed:12442276, ECO:0000269|PubMed:12621127, ECO:0000269|PubMed:15051636, ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16361248, ECO:0000269|PubMed:16414944, ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:22314138, ECO:0000269|PubMed:27916661, ECO:0000269|PubMed:7889573, ECO:0000269|PubMed:8635257, ECO:0000269|PubMed:8877771, ECO:0000269|PubMed:8914737, ECO:0000269|PubMed:9024139, ECO:0000269|PubMed:9452080, ECO:0000269|PubMed:9544837, ECO:0000269|PubMed:9600240, ECO:0000269|PubMed:9693036, ECO:0000269|PubMed:9927399}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Short QT syndrome 1 (SQT1) [MIM:609620]: A form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. {ECO:0000269|PubMed:14676148, ECO:0000269|PubMed:15828882}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:10219239, ECO:0000269|PubMed:10753933, ECO:0000269|PubMed:10790218, ECO:0000269|PubMed:10837251, ECO:0000269|PubMed:11997281, ECO:0000269|PubMed:12063277, ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:22314138, ECO:0000269|PubMed:22359612, ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27916661, ECO:0000269|PubMed:9230439, ECO:0000269|PubMed:9351446, ECO:0000269|PubMed:9765245}.; FUNCTION: [Isoform A-USO]: Has no inward rectifier potassium channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:9765245}.; FUNCTION: [Isoform B-USO]: Has no inward rectifier potassium channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269|PubMed:18559421}.
uniprot
proteins
mass_dalton
126655
uniprot
proteins
mutagenesis
MUTAGEN 29; /note="F->A: Slows down deactivation."; /evidence="ECO:0000269|PubMed:9845367"; MUTAGEN 43; /note="Y->A: Slows down deactivation."; /evidence="ECO:0000269|PubMed:9845367"; MUTAGEN 283; /note="S->A: Abolishes phosphorylation; when associated with A-890; A-895 and A-1137."; /evidence="ECO:0000269|PubMed:10837251"; MUTAGEN 540; /note="D->A: Does not affect steady-state activation. Significantly slow the activation rate at the most depolarised potentials. Accelerates the activation rate at less positive voltages."; /evidence="ECO:0000269|PubMed:22359612"; MUTAGEN 543; /note="S->A: Increases the activation rate more rapidly at high voltages."; /evidence="ECO:0000269|PubMed:22359612"; MUTAGEN 546; /note="G->A: Slows the activation rate."; /evidence="ECO:0000269|PubMed:22359612"; MUTAGEN 548; /note="A->V: Perturbs steady-state activation. Accelerates the activation rate at the most depolarised potentials. Affects modestly the activation rate at less positive voltages."; /evidence="ECO:0000269|PubMed:22359612"; MUTAGEN 550; /note="L->A: Slows the activation rate at low voltage gradients. Increases the activation rate more rapidly at high voltages."; /evidence="ECO:0000269|PubMed:22359612"; MUTAGEN 598; /note="N->Q: No effect on cell surface expression, but changes inactivation kinetics; when associated with A-631."; /evidence="ECO:0000269|PubMed:12063277"; MUTAGEN 629; /note="N->Q: Abolishes cell surface expression; has no effect on N-glycosylation."; /evidence="ECO:0000269|PubMed:12063277"; MUTAGEN 631; /note="S->A: No effect on cell surface expression, but changes inactivation kinetics; when associated with Q-598."; /evidence="ECO:0000269|PubMed:12063277"; MUTAGEN 890; /note="S->A: Abolishes phosphorylation; when associated with A-283; A-895 and A-1137."; /evidence="ECO:0000269|PubMed:10837251"; MUTAGEN 895; /note="T->A: Abolishes phosphorylation; when associated with A-283; A-890 and A-1137."; /evidence="ECO:0000269|PubMed:10837251"; MUTAGEN 1137; /note="S->A: Abolishes phosphorylation; when associated with A-283; A-890 and A-895."; /evidence="ECO:0000269|PubMed:10837251
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine and threonine residues. Phosphorylation by PKA inhibits ion conduction. {ECO:0000269|PubMed:10837251}.
uniprot
proteins
protein_family
H (Eag) (TC 1.A.1.20) subfamily
uniprot
proteins
protein_family
Kv11.1/KCNH2 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
10086971
uniprot
proteins
pubmed
10187793
uniprot
proteins
pubmed
10219239
uniprot
proteins
pubmed
10220144
uniprot
proteins
pubmed
10517660
uniprot
proteins
pubmed
10735633
uniprot
proteins
pubmed
10744792
uniprot
proteins
pubmed
10753933
uniprot
proteins
pubmed
10790218
uniprot
proteins
pubmed
10837251
uniprot
proteins
pubmed
10862094
uniprot
proteins
pubmed
10973849
uniprot
proteins
pubmed
11170080
uniprot
proteins
pubmed
11374908
uniprot
proteins
pubmed
11997281
uniprot
proteins
pubmed
12062363
uniprot
proteins
pubmed
12063277
uniprot
proteins
pubmed
12354768
uniprot
proteins
pubmed
12431979
uniprot
proteins
pubmed
12442276
uniprot
proteins
pubmed
12621127
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14676148
uniprot
proteins
pubmed
15051636
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15828882
uniprot
proteins
pubmed
15840476
uniprot
proteins
pubmed
16361248
uniprot
proteins
pubmed
16414944
uniprot
proteins
pubmed
16922724
uniprot
proteins
pubmed
18559421
uniprot
proteins
pubmed
19412172
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19716085
uniprot
proteins
pubmed
22314138
uniprot
proteins
pubmed
22359612
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25281747
uniprot
proteins
pubmed
26363003
uniprot
proteins
pubmed
27916661
uniprot
proteins
pubmed
7889573
uniprot
proteins
pubmed
8159766
uniprot
proteins
pubmed
8635257
uniprot
proteins
pubmed
8877771
uniprot
proteins
pubmed
8914737
uniprot
proteins
pubmed
9024139
uniprot
proteins
pubmed
9230439
uniprot
proteins
pubmed
9351446
uniprot
proteins
pubmed
9351462
uniprot
proteins
pubmed
9452080
uniprot
proteins
pubmed
9544837
uniprot
proteins
pubmed
9600240
uniprot
proteins
pubmed
9693036
uniprot
proteins
pubmed
9765245
uniprot
proteins
pubmed
9845367
uniprot
proteins
pubmed
9927399
uniprot
proteins
sequence_length
1159
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10753933, ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:19412172, ECO:0000269|PubMed:26363003}; Multi-pass membrane protein {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:19412172}.
uniprot
proteins
transmembrane_region
TRANSMEM 404..424; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 451..471; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 496..516; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 521..541; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 548..568; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 639..659; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins