AutismKB 2.0

Annotation Details for KCNH2


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Basic Information Top
Gene Symbol:KCNH2 ( ERG1,HERG,HERG1,Kv11.1,LQT2,SQT1 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 2
Band: 7q36.1
Quick LinksEntrez ID:3757; OMIM: 152427; Uniprot ID:KCNH2_HUMAN; ENSEMBL ID: ENSG00000055118; HGNC ID: 6251
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane21463633
GO:0005886IMP-plasma membrane25281747
GO:0005886TAS-plasma membrane-
GO:0008076IDA-voltage-gated potassium channel complex7604285
GO:0008076IMP-voltage-gated potassium channel complex25281747
GO:0009986IDA-cell surface21536673
GO:0048471IMP-perinuclear region of cytoplasm25281747
GO ID Evidence Qualifier GO_term References
GO:0000155IEA-phosphorelay sensor kinase activity-
GO:0005242IDA-inward rectifier potassium channel activity7604285
GO:0005249IDA-voltage-gated potassium channel activity11953308
GO:0005251IDA-delayed rectifier potassium channel activity7736582
GO:0005251IGI-delayed rectifier potassium channel activity25281747
GO:0005515IPI-protein binding11953308
GO:0031625IPI-ubiquitin protein ligase binding21463633
GO:0042802IPI-identical protein binding8995352
GO:0042803IPI-protein homodimerization activity8995352
GO:0055131IPI-C3HC4-type RING finger domain binding25281747
GO:0086008IC-voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization25281747
GO:0097110IPI-scaffold protein binding18923542
GO:1902282IMP-voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization21536673
GO ID Evidence Qualifier GO_term References
GO:0000160IEA-phosphorelay signal transduction system-
GO:0003064TAS-regulation of heart rate by hormone11953308
GO:0023014IEA-signal transduction by protein phosphorylation-
GO:0035690IDA-cellular response to drug7604285
GO:0042391IDA-regulation of membrane potential8587608
GO:0055075IDA-potassium ion homeostasis7604285
GO:0060048IMP-cardiac muscle contraction21536673
GO:0060306IDA-regulation of membrane repolarization7736582
GO:0060307IMP-regulation of ventricular cardiac muscle cell membrane repolarization21536673
GO:0061337TAS-cardiac conduction-
GO:0071435IDA-potassium ion export7604285
GO:0071805IDA-potassium ion transmembrane transport7604285
GO:0086005IMP-ventricular cardiac muscle cell action potential21536673
GO:0086010IDA-membrane depolarization during action potential7604285
GO:0086011IDA-membrane repolarization during action potential7736582
GO:0086013IMP-membrane repolarization during cardiac muscle cell action potential21536673
GO:0086091IMP-regulation of heart rate by cardiac conduction7889573
GO:0097623IGI-potassium ion export across plasma membrane25281747
GO:0098915IMP-membrane repolarization during ventricular cardiac muscle cell action potential21536673
GO:1901379IDA-regulation of potassium ion transmembrane transport11953308
GO:1901380IDA-negative regulation of potassium ion transmembrane transport7604285
GO:1901381IDA-positive regulation of potassium ion transmembrane transport7736582
GO:1902303IDA-negative regulation of potassium ion export7604285
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KCNH2KCNE11099559230439 Affinity Capture-Western
KCNH2KCNE11099599230439 Affinity Capture-Western
YWHAEKCNH211336311953308 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
YWHAEKCNH210995911953308 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ALG10BKCNH212684014525949 Affinity Capture-Western
ALG10BKCNH210995914525949 Affinity Capture-Western
NDUFS6KCNH211080516169070 Two-hybrid
NDUFS6KCNH210995916169070 Two-hybrid
CDC73KCNH212272416169070 Two-hybrid
CDC73KCNH210995916169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
KCNH2rs10236214, rs1036145, rs11763131, rs11771808, rs12668582, rs1805120, rs1805123, rs2373885, rs2968857, rs34657537, rs35760656, rs3778869, rs3778870, rs3778871, rs3778872, rs3778873, rs3778874, rs3800779, rs3807370, rs3807372, rs3807373, rs3807374, rs3807376, rs3823587, rs41308993, rs41313101, rs4496877, rs4725984, rs55642626, rs55686454, rs55851300, rs55980084, rs56062374, rs56282717, rs56340277, rs6947240, rs748693, rs885684, rs956642 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:1341722
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-070912-699'