Protein Details: Potassium voltage-gated channel subfamily H member 2

Protein ID

ICDB_Pro_0816

Protein Name

Potassium voltage-gated channel subfamily H member 2

Gene Name

KCNH2; ERG; ERG1; HERG

Organism

Homo sapiens (Human)

Length

1159 amino acids

AlphaFoldDB

AF-Q12809-F1-model_v4.pdb

Function

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Sequence

MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQVLSLGADVLPEYKLQAPRIHRWTILHYSPFKAVWDWLILLLVIYTAVFTPYSAAFLLKETEEGPPATECGYACQPLAVVDLIVDIMFIVDILINFRTTYVNANEEVVSHPGRIAVHYFKGWFLIDMVAAIPFDLLIFGSGSEELIGLLKTARLLRLVRVARKLDRYSEYGAAVLFLLMCTFALIAHWLACIWYAIGNMEQPHMDSRIGWLHNLGDQIGKPYNSSGLGGPSIKDKYVTALYFTFSSLTSVGFGNVSPNTNSEKIFSICVMLIGSLMYASIFGNVSAIIQRLYSGTARYHTQMLRVREFIRFHQIPNPLRQRLEEYFQHAWSYTNGIDMNAVLKGFPECLQADICLHLNRSLLQHCKPFRGATKGCLRALAMKFKTTHAPPGDTLVHAGDLLTALYFISRGSIEILRGDVVVAILGKNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRKLSFRRRTDKDTEQPGEVSALGPGRAGAGPSSRGRPGGPWGESPSSGPSSPESSEDEGPGRSSSPLRLVPFSSPRPPGEPPGGEPLMEDCEKSSDTCNPLSGAFSGVSNIFSFWGDSRGRQYQELPRCPAPTPSLLNIPLSSPGRRPRGDVESRLDALQRQLNRLETRLSADMATVLQLLQRQMTLVPPAYSAVTTPGPGPTSTSPLLPVSPLPTLTLDSLSQVSQFMACEELPPGAPELPQEGPTRRLSLPGQLGALTSQPLHRHGSDPGS

PDB Structures

1BYW 1UJL 2L0W 2L1M 2L4R 2LE7 2N7G 4HP9 4HQA 5VA1 5VA2 5VA3 6SYG

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

742..842

Disease

Long Qt Syndrome 2 and Short Qt Syndrome 1

Location

Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells.

DOI ID

10.1073/pnas.91.8.3438; 10.1007/s004390050717; 10.1006/geno.2001.6527; 10.1074/jbc.m210789200; 10.1128/mcb.00304-08; 10.1038/nm.1962; 10.1038/nature01782; 10.1161/01.res.81.5.870; 10.1161/01.res.81.5.719; 10.1002/(sici)1098-1004(200005)15:5<483::aid-humu18>3.0.co;2-t; 10.1101/gr.2596504; 10.1074/jbc.273.42.27231; 10.1152/ajpheart.00008.2002; 10.1016/s0960-9822(00)00516-9; 10.1038/40882; 10.1016/s0092-8674(00)80728-x; 10.1074/jbc.m511765200; 10.1126/scisignal.2000007; 10.1021/pr300630k; 10.1074/jbc.m114.592295; 10.1042/bj20141282; 10.1016/j.molcel.2016.10.027; 10.1016/s0092-8674(00)81635-9; 10.1016/0092-8674(95)90358-5; 10.1002/(sici)1096-8628(19961002)65:1<27::aid-ajmg4>3.0.co;2-v; 10.1161/01.cir.93.10.1791; 10.1006/jmcc.1996.0151; 10.1161/01.cir.95.3.565; 10.1006/geno.1998.5361; 10.1007/s004390050690; 10.1002/humu.1380110159; 10.1161/01.cir.99.11.1464; 10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v; 10.1074/jbc.274.15.10113; 10.1111/j.1540-8167.1999.tb00304.x; 10.1034/j.1399-0004.2000.570206.x; 10.1161/01.cir.102.10.1178; 10.1002/1098-1004(200006)15:6<580::aid-humu16>3.0.co;2-0; 10.1074/jbc.275.15.11241; 10.1002/1096-8628(20010201)98:4<348::aid-ajmg1109>3.0.co;2-a; 10.1016/s0008-6363(02)00240-7; 10.1161/01.cir.0000014448.19052.4c; 10.1002/humu.9085; 10.1074/jbc.m206569200; 10.1203/01.pdr.0000059750.17002.b6; 10.1161/01.cir.0000109482.92774.3a; 10.1161/01.cir.0000125524.34234.13; 10.1016/j.hrthm.2005.01.020; 10.1001/jama.294.23.2975; 10.1046/j.1540-8167.2005.40621.x; 10.1111/j.1399-0004.2006.00671.x; 10.1016/j.hrthm.2009.05.021; 10.1016/j.bbrc.2012.01.118

RefSeq

NP_000229.1 [Q12809-1]; NP_001191727.1 [Q12809-6]; NP_742053.1 [Q12809-5]; NP_742054.1 [Q12809-2]