InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNH2

Summary

InnateDB Protein

IDBP-48335.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCNH2

Protein 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 Protein

ENSP00000328531

InnateDB Gene

IDBG-48331 (KCNH2)

Protein Structure

UniProt Annotation

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). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation. {ECO:0000269PubMed:18559421}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:18559421, ECO:0000269PubMed:19412172}; Multi-pass membrane protein {ECO:0000269PubMed:18559421, ECO:0000269PubMed:19412172}.

Disease Associations

Long QT syndrome 2 (LQT2) [MIM:613688]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. {ECO:0000269PubMed:10086971, ECO:0000269PubMed:10187793, ECO:0000269PubMed:10220144, ECO:0000269PubMed:10517660, ECO:0000269PubMed:10735633, ECO:0000269PubMed:10862094, ECO:0000269PubMed:10973849, ECO:0000269PubMed:12062363, ECO:0000269PubMed:12354768, ECO:0000269PubMed:12621127, ECO:0000269PubMed:15051636, ECO:0000269PubMed:15840476, ECO:0000269PubMed:16922724, ECO:0000269PubMed:22314138, ECO:0000269PubMed:7889573, ECO:0000269PubMed:8635257, ECO:0000269PubMed:8877771, ECO:0000269PubMed:8914737, ECO:0000269PubMed:9024139, ECO:0000269PubMed:9452080, ECO:0000269PubMed:9544837, ECO:0000269PubMed:9600240, ECO:0000269PubMed:9693036}. Note=The disease is caused by mutations affecting the gene represented in this entry.Short QT syndrome 1 (SQT1) [MIM:609620]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269PubMed:14676148, ECO:0000269PubMed:15828882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells. {ECO:0000269PubMed:18559421}.

Comments

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: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:0006811	ion transport
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:0005886	plasma membrane
GO:0008076	voltage-gated potassium channel complex
GO:0009986	cell surface
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000595 Cyclic nucleotide-binding domain
IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG
IPR003967 Potassium channel, voltage-dependent, ERG
IPR005821 Ion transport domain
IPR013099 Two pore domain potassium channel domain
IPR018490 Cyclic nucleotide-binding-like

PFAM

PF00027
PF00520
PF07885

PRINTS

PR01463
PR01470

PIRSF

SMART

SM00100

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt