| Tag | Content |
|---|---|
| UniProt Accession | KCNH2_HUMAN; Q12809; |
| Entrez ID | 3757 |
| GenBank Protein ID | NM_000238.3; NM_001204798.1; NM_172056.2; NM_172057.2; |
| GenBank Nucleotide ID | NP_000229.1; NP_001191727.1; NP_742053.1; NP_742054.1; |
| Protein Name | Potassium voltage-gated channel subfamily H member 2 (Eag homolog) (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (H-ERG) (hERG-1) (hERG1) (Voltage-gated potassium channel subunit Kv11.1) |
| Gene Name | KCNH2; ERG; ERG1; HERG |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | 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) (PubMed:18559421, PubMed:26363003, PubMed:27916661).;Isoform A-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.;Isoform B-USO: Has no channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. |
| Sequence (Fasta) | MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 60 QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 120 AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 180 RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 240 PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 300 RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 360 PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 420 TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 480 EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 540 RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 600 GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 660 AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 720 PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 780 FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE 840 VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE 900 QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS 960 PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP 1020 SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA 1080 VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG 1140 QLGALTSQPL HRHGSDPGS |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 9) (view all) | MESH:D001145
; Arrhythmias, Cardiac MESH:D002471 ; Cell Transformation, Neoplastic MESH:D003110 ; Colonic Neoplasms MESH:D008133 ; Long QT Syndrome MESH:C563614 ; Long Qt Syndrome 2 MESH:D009133 ; Muscular Atrophy |
| DisGeNet (Curated) (count: 19) (view all) | C0003811; Cardiac Arrhythmia
C0007621; Neoplastic Cell Transformation C0009375; Colonic Neoplasms C0018790; Cardiac Arrest C0023976; Long QT Syndrome C0026846; Muscular Atrophy |
| GWASdb (count: 8) (view all) | rs36210421; Drug response to Dofetilide; Null
rs12720441; Drug response to Amiodarone; Null rs3807375; Electrocardiographic traits; heart conduction disease rs3807375; Tourette syndrome; Gilles de la Tourette syndrome|obsessive-compulsive disorder|attention deficit hyperactivity disorder rs4725984; LDL cholesterol; atherosclerosis|coronary artery disease rs3778873; QT interval; heart conduction disease|long QT syndrome |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 25) (view all) | 1009 GDSRGRQYQELPRCP dbPAF
1029 LLNIPLSSPGRRPRG dbPAF 1137 EGPTRRLSLPGQLGA dbPAF 239 RALVGPGSPPRSAPG dbPAF 250 SAPGQLPSPRAHSLN dbPAF 283 CASVRRASSADDIEA dbPAF |
| Ubiquitination (count: 6) | 166 RAKTFRLKLPALLAL PLMD
344 TLNFVDLKGDPFLAS PLMD 389 ADVLPEYKLQAPRIH PLMD 741 RSLLQHCKPFRGATK PLMD 757 CLRALAMKFKTTHAP PLMD 897 SFRRRTDKDTEQPGE PLMD |