Version 5.4
Homo sapiens Gene: KCNH2
Summary
InnateDB Gene IDBG-48331.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNH2
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 2
Synonyms ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1
Species Homo sapiens
Ensembl Gene ENSG00000055118
Encoded Proteins
IDBP-48333
potassium voltage-gated channel, subfamily H (eag-related), member 2
IDBP-48335
potassium voltage-gated channel, subfamily H (eag-related), member 2
IDBP-387334
potassium voltage-gated channel, subfamily H (eag-related), member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:150944961-150978315
Strand Reverse strand
Band q36.1
Transcripts
ENST00000262186 ENSP00000262186
ENST00000330883 ENSP00000328531
ENST00000430723 ENSP00000387657
ENST00000473610
ENST00000461280
ENST00000532957
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
Experimentally validated
Total 26 [view]
Protein-Protein 26 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000155 phosphorelay sensor kinase activity
GO:0004871 signal transducer activity
GO:0005216 ion channel activity
GO:0005242 inward rectifier potassium channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005515 protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Biological Process
GO:0000160 phosphorelay signal transduction system
GO:0003064 regulation of heart rate by hormone
GO:0006355 regulation of transcription, DNA-templated
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0023014 signal transduction by phosphorylation
GO:0035690 cellular response to drug
GO:0042391 regulation of membrane potential
GO:0055075 potassium ion homeostasis
GO:0055085 transmembrane transport
GO:0060048 cardiac muscle contraction
GO:0060306 regulation of membrane repolarization
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0071435 potassium ion export
GO:0071805 potassium ion transmembrane transport
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086010 membrane depolarization during action potential
GO:0086011 membrane repolarization during action potential
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901379 regulation of potassium ion transmembrane transport
GO:1901380 negative regulation of potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1902303 negative regulation of potassium ion export
Cellular Component
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038319
View Gene Order
ENSBTAG00000004078
Not yet available
Pathways
NETPATH
REACTOME
REACT_75770
Voltage gated Potassium channels pathway
REACT_13685
Neuronal System pathway
REACT_75908
Potassium Channels pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q12809
TrEMBL Q6U279 Q6U283 Q6U287 Q75MK8 Q86U57
UniProt Splice Variant
Entrez Gene 3757
UniGene Hs.647099
RefSeq NM_172056 NM_000238 NM_172057
HUGO HGNC:6251
OMIM 152427
CCDS CCDS5910 CCDS5911
HPRD 01069
IMGT
EMBL AB009071 AB044806 AC006343 AC011234 AF052728 AF363636 AJ010538 AJ010539 AJ010540 AJ010541 AJ010542 AJ010543 AJ010544 AJ010545 AJ010546 AJ010547 AJ010548 AJ010549 AJ010550 AJ010551 AJ512214 AJ609614 AY380044 AY380045 AY380046 AY380047 AY380048 AY380049 AY380050 AY380051 AY380052 AY380053 AY380054 AY380055 AY380056 BC001914 BC004311 BT007336 CH471173 DQ784808 FJ938021 U04270
GenPept AAA62473 AAC69709 AAH01914 AAH04311 AAL37559 AAP36000 AAQ91589 AAQ91590 AAQ91591 AAQ91592 AAQ91593 AAQ91594 AAQ91595 AAQ91596 AAQ91597 AAQ91598 AAQ91599 AAQ91600 AAQ91601 AAS07567 ABQ01243 ACR24650 BAA37096 BAB19682 CAA09232 CAD54447 CAE82156 EAW54072 EAW54075
RNA Seq Atlas 3757

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca