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Gene: KCNH2 (potassium voltage-gated channel subfamily H member 2) Homo sapiens
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Symbol: KCNH2
Name: potassium voltage-gated channel subfamily H member 2
Description: Exhibits several functions, including C3HC4-type RING finger domain binding activity; protein homodimerization activity; and voltage-gated potassium channel activity. Involved in several processes, including potassium ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ion transmembrane transport. Localizes to the cell surface; inward rectifier potassium channel complex; and perinuclear region of cytoplasm. Implicated in long QT syndrome; long QT syndrome 2; and short QT syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: eag homolog; eag-related protein 1; ERG-1; ERG1; ether-a-go-go-related gene potassium channel 1; ether-a-go-go-related potassium channel protein; ether-a-go-go-related protein 1; H-ERG; HERG; hERG-1; HERG1; Kv11.1; LQT2; potassium channel, voltage gated eag related subfamily H, member 2; potassium voltage-gated channel, subfamily H (eag-related), member 2; SQT1; voltage-gated potassium channel subunit Kv11.1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,944,956 - 150,978,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377150,642,044 - 150,675,402 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,272,982 - 150,305,947 (-)NCBINCBI36hg18NCBI36
Build 347150,079,696 - 150,090,563NCBI
Celera7145,199,077 - 145,232,050 (-)NCBI
Cytogenetic Map7q36.1NCBI
HuRef7144,454,320 - 144,487,268 (-)NCBIHuRef
CHM1_17150,650,401 - 150,683,838 (-)NCBICHM1_1
CRA_TCAGchr7v27149,971,333 - 150,004,698 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model