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HUMAN:KCNH2

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) KCNH2 (synonyms: ERG, ERG1, HERG)
Protein Name(s) 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

External Links
UniProt Q12809
EMBL U04270
AB009071
AB044806
AF363636
AJ512214
AJ609614
FJ938021
DQ784808
AC006343
AC011234
CH471173
AJ010538
AJ010539
AJ010540
AJ010541
AJ010542
AJ010543
AJ010544
AJ010545
AJ010546
AJ010547
AJ010548
AJ010549
AJ010550
AJ010551
CH471173
BC001914
BC004311
AF052728
CCDS CCDS5910.1
CCDS5911.1
PIR I38465
RefSeq NP_000229.1
NP_001191727.1
NP_742053.1
NP_742054.1
UniGene Hs.647099
PDB 1BYW
1UJL
2L0W
2L1M
2L4R
2LE7
4HP9
4HQA
PDBsum 1BYW
1UJL
2L0W
2L1M
2L4R
2LE7
4HP9
4HQA
ProteinModelPortal Q12809
SMR Q12809
BioGrid 109959
DIP DIP-48929N
IntAct Q12809
MINT MINT-1427435
STRING 9606.ENSP00000262186
BindingDB Q12809
ChEMBL CHEMBL2362996
DrugBank DB00346
DB01118
DB00276
DB00637
DB01136
DB00477
DB00604
DB00204
DB00590
DB01142
DB04855
DB01218
DB00308
DB00458
DB01110
DB01100
DB00457
DB01182
DB00908
DB06144
DB00489
DB01162
DB00679
DB00661
GuidetoPHARMACOLOGY 572
TCDB 1.A.1.20.1
PhosphoSite Q12809
DMDM 7531135
PaxDb Q12809
PRIDE Q12809
DNASU 3757
Ensembl ENST00000262186
ENST00000330883
GeneID 3757
KEGG hsa:3757
UCSC uc003wib.3
uc003wic.3
CTD 3757
GeneCards GC07M150642
GeneReviews KCNH2
HGNC HGNC:6251
HPA CAB006838
MIM 152427
609620
613688
neXtProt NX_Q12809
Orphanet 51083
101016
PharmGKB PA212
eggNOG COG2202
GeneTree ENSGT00760000118772
HOVERGEN HBG052232
InParanoid Q12809
KO K04905
OMA DEVPAMD
OrthoDB EOG75B879
PhylomeDB Q12809
TreeFam TF313130
Reactome REACT_75770
SignaLink Q12809
ChiTaRS KCNH2
EvolutionaryTrace Q12809
GeneWiki HERG
GenomeRNAi 3757
NextBio 14717
PRO PR:Q12809
Proteomes UP000005640
Bgee Q12809
CleanEx HS_ERG
HS_KCNH2
ExpressionAtlas Q12809
Genevestigator Q12809
GO GO:0009986
GO:0005737
GO:0005635
GO:0005886
GO:0008076
GO:0005251
GO:0042802
GO:0005242
GO:0000155
GO:0042803
GO:0031625
GO:0005249
GO:1902282
GO:0060048
GO:0035690
GO:0086010
GO:0086011
GO:0086013
GO:1902303
GO:1901380
GO:1901381
GO:0071435
GO:0055075
GO:0071805
GO:0086091
GO:0003064
GO:0042391
GO:0060306
GO:1901379
GO:0060307
GO:0007268
GO:0086005
Gene3D 2.60.120.10
InterPro IPR018490
IPR000595
IPR005821
IPR003938
IPR003967
IPR030172
IPR001610
IPR000014
IPR000700
IPR014710
PANTHER PTHR10217:SF468
Pfam PF00027
PF00520
PF13426
PRINTS PR01463
PR01470
SMART SM00100
SM00086
SM00091
SUPFAM SSF51206
SSF55785
TIGRFAMs TIGR00229
PROSITE PS50042
PS50113
PS50112

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:1990573

potassium ion import across plasma membrane

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:28280240[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:1902937

inward rectifier potassium channel complex

PMID:14525949[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005242

inward rectifier potassium channel activity

PMID:14525949[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0086009

membrane repolarization

PMID:14525949[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0098915

membrane repolarization during ventricular cardiac muscle cell action potential

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0048471

perinuclear region of cytoplasm

PMID:25281747[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:25281747[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0086008

voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization

PMID:25281747[5]

ECO:0000305

curator inference used in manual assertion

GO:0005251

F

Seeded From UniProt

complete

involved_in

GO:0097623

potassium ion export across plasma membrane

PMID:25281747[5]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q6ZRF8

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:25281747[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0055131

C3HC4-type RING finger domain binding

PMID:25281747[5]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q6ZRF8

F

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:25281747[5]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q6ZRF8

F

Seeded From UniProt

complete

enables

GO:0097110

scaffold protein binding

PMID:18923542[6]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q03135

F

Seeded From UniProt

complete

involved_in

GO:1903765

negative regulation of potassium ion export across plasma membrane

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1903765

negative regulation of potassium ion export across plasma membrane

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:1902282

voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:1901381

positive regulation of potassium ion transmembrane transport

PMID:7736582[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1901380

negative regulation of potassium ion transmembrane transport

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1901380

negative regulation of potassium ion transmembrane transport

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1901379

regulation of potassium ion transmembrane transport

PMID:11953308[9]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086091

regulation of heart rate by cardiac conduction

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086013

membrane repolarization during cardiac muscle cell action potential

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086011

membrane repolarization during action potential

PMID:7736582[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086011

membrane repolarization during action potential

PMID:21463633[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086011

membrane repolarization during action potential

PMID:11953308[9]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086010

membrane depolarization during action potential

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0086005

ventricular cardiac muscle cell action potential

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:21063088[11]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:7736582[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:11953308[9]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0097623

potassium ion export across plasma membrane

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060307

regulation of ventricular cardiac muscle cell membrane repolarization

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060306

regulation of membrane repolarization

PMID:7736582[8]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060306

regulation of membrane repolarization

PMID:21463633[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060048

cardiac muscle contraction

PMID:21536673[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0055075

potassium ion homeostasis

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0055075

potassium ion homeostasis

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:8995352[12]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q12809

F

Seeded From UniProt

complete

involved_in

GO:0042391

regulation of membrane potential

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0042391

regulation of membrane potential

PMID:21463633[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035690

cellular response to drug

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0031625

ubiquitin protein ligase binding

PMID:21463633[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q96PU5

F

Seeded From UniProt

complete

part_of

GO:0009986

cell surface

PMID:21536673[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:7736582[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0008076

voltage-gated potassium channel complex

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

PMID:21463633[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005251

delayed rectifier potassium channel activity

PMID:7736582[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:21063088[11]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:11953308[9]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005242

inward rectifier potassium channel activity

PMID:8587608[7]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005242

inward rectifier potassium channel activity

PMID:7604285[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1341721
MGI:MGI:1341722
PANTHER:PTN000025350
RGD:68398
UniProtKB:O18965
UniProtKB:O95259
UniProtKB:Q12809

P

Seeded From UniProt

complete

involved_in

GO:0042391

regulation of membrane potential

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1341722
PANTHER:PTN000025350
RGD:621414
UniProtKB:Q12809

P

Seeded From UniProt

complete

part_of

GO:0005887

integral component of plasma membrane

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1341721
PANTHER:PTN000025350
RGD:620304
RGD:621414
RGD:68398
UniProtKB:O18965
UniProtKB:O95259
ZFIN:ZDB-GENE-070912-23

C

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0000535
MGI:MGI:1341722
PANTHER:PTN000025350
RGD:2549
RGD:620304
RGD:621112
RGD:621414
UniProtKB:O18965
UniProtKB:Q12809
ZFIN:ZDB-GENE-040702-5
ZFIN:ZDB-GENE-061226-1
ZFIN:ZDB-GENE-070912-23
ZFIN:ZDB-GENE-121128-4

F

Seeded From UniProt

complete

involved_in

GO:0086091

regulation of heart rate by cardiac conduction

PMID:7889573[14]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:8995352[12]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q12809

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:24931372[15]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q12809

F

Seeded From UniProt

complete

enables

GO:0005216

ion channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

F

Seeded From UniProt

complete

enables

GO:0005249

voltage-gated potassium channel activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003938
InterPro:IPR003967

F

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

involved_in

GO:0006813

potassium ion transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003938
InterPro:IPR003967

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003938
InterPro:IPR003967
InterPro:IPR005821

C

Seeded From UniProt

complete

involved_in

GO:0055085

transmembrane transport

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR005821

P

Seeded From UniProt

complete

involved_in

GO:0003064

regulation of heart rate by hormone

PMID:11953308[9]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0061337

cardiac conduction

Reactome:R-HSA-5576890

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

Reactome:R-HSA-5577237
Reactome:R-HSA-1296127

ECO:0000304

author statement supported by traceable reference used in manual assertion


C

Seeded From UniProt

complete

involved_in

GO:0006813

potassium ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0633

P

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

involved_in

GO:0034765

regulation of ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

P

Seeded From UniProt

complete

involved_in

GO:0006811

ion transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0406

P

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

enables

GO:0005244

voltage-gated ion channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0851

F

Seeded From UniProt

complete

part_of

GO:0005886

plasma membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-1003
UniProtKB-SubCell:SL-0039

C

Seeded From UniProt

complete

involved_in

GO:0071805

potassium ion transmembrane transport

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0631

P

Seeded From UniProt

complete

enables

GO:0005267

potassium channel activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0631

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Trudeau, MC et al. (1995) HERG, a human inward rectifier in the voltage-gated potassium channel family. Science 269 92-5 PubMed GONUTS page
  2. Phan, K et al. (2017) The S1 helix critically regulates the finely tuned gating of Kv11.1 channels. J. Biol. Chem. 292 7688-7705 PubMed GONUTS page
  3. 3.0 3.1 3.2 Kupershmidt, S et al. (2003) The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. FASEB J. 17 2263-5 PubMed GONUTS page
  4. 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 Gianulis, EC & Trudeau, MC (2011) Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels. J. Biol. Chem. 286 22160-9 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 5.4 5.5 5.6 Roder, K et al. (2014) RING finger protein RNF207, a novel regulator of cardiac excitation. J. Biol. Chem. 289 33730-40 PubMed GONUTS page
  6. Lin, J et al. (2008) The regulation of the cardiac potassium channel (HERG) by caveolin-1. Biochem. Cell Biol. 86 405-15 PubMed GONUTS page
  7. 7.0 7.1 7.2 7.3 7.4 7.5 7.6 Smith, PL et al. (1996) The inward rectification mechanism of the HERG cardiac potassium channel. Nature 379 833-6 PubMed GONUTS page
  8. 8.0 8.1 8.2 8.3 8.4 8.5 Sanguinetti, MC et al. (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81 299-307 PubMed GONUTS page
  9. 9.0 9.1 9.2 9.3 9.4 Kagan, A et al. (2002) 14-3-3 amplifies and prolongs adrenergic stimulation of HERG K+ channel activity. EMBO J. 21 1889-98 PubMed GONUTS page
  10. 10.0 10.1 10.2 10.3 10.4 Albesa, M et al. (2011) Nedd4-2-dependent ubiquitylation and regulation of the cardiac potassium channel hERG1. J. Mol. Cell. Cardiol. 51 90-8 PubMed GONUTS page
  11. 11.0 11.1 Eckey, K et al. (2010) Modulation of human ether a gogo related channels by CASQ2 contributes to etiology of catecholaminergic polymorphic ventricular tachycardia (CPVT). Cell. Physiol. Biochem. 26 503-12 PubMed GONUTS page
  12. 12.0 12.1 Li, X et al. (1997) The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression. J. Biol. Chem. 272 705-8 PubMed GONUTS page
  13. 13.0 13.1 13.2 13.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  14. Curran, ME et al. (1995) A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80 795-803 PubMed GONUTS page
  15. Li, Q et al. (2014) Insight into the molecular interaction between the cyclic nucleotide-binding homology domain and the eag domain of the hERG channel. FEBS Lett. 588 2782-8 PubMed GONUTS page