Potassium Channel, Voltage-Gated, Subfamily H, Member 2

Alternative Names

  • KCNH2
  • Human Ether-A-Go-Go-Related Gene
  • HERG
  • Ether-A-Go-Go-Related Gene, Human
  • ERG1
  • KV11.1

Associated Diseases

Long QT Syndrome 2
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OMIM Number

152427

NCBI Gene ID

3757

Uniprot ID

Q12809

Length

33,366 bases

No. of Exons

19

No. of isoforms

7

Protein Name

Potassium voltage-gated channel subfamily H member 2

Molecular Mass

126655 Da

Amino Acid Count

1159

Genomic Location

chr7:150,944,956-150,978,321

Gene Map Locus
7q36.1

Description

The KCNH2 gene is located on chromosome 7q36.1, where it gives instructions for making the pore-forming (alpha) subunit of voltage-gated potassium channel (KV). This protein, made up of 1159 amino acids and weighing about 127 kDa, belongs to the 6-TM family of potassium channel. The KCNH2 subunits oligomerize to form a tetramer that inserts into the cell membrane to form the functional K+ channel, which is active in cardiac muscles. These subunits are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm.

Defects in the KCNH2 protein are the cause of long QT syndrome 2, and Short QT syndrome 1. Long QT syndrome is a disorder of the heart's electrical activity, characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000238.3:c.1837A>GLebanonchr7:150951556PathogenicPathogenicLong QT Syndrome 2NG_008916.1:g.31371A>G; NM_000238.3:c.1837A>G; NP_000229.1:p.Thr613Ala794728485200743
NM_000238.4:c.1609C>TSaudi Arabiachr7:150951784Pathogenic, Uncertain SignificancePathogenicLong QT Syndrome 2NG_008916.1:g.31143C>T; NM_000238.4:c.1609C>T; NP_000229.1:p.Arg537Trp19947291767222
NM_000238.4:c.2342dupSaudi Arabiachr7:150950224PathogenicLong QT Syndrome 2NG_008916.1:g.32703dup; NM_000238.4:c.2342dup; NP_000229.1:p.Ile782HisfsTer22
NM_000238.4:c.2362G>ASaudi Arabiachr7:150950204Likely Pathogenic, PathogenicPathogenicLong QT Syndrome 2NG_008916.1:g.32723G>A; NM_000238.4:c.2362G>A; NP_000229.1:p.Glu788Lys19947299767389
NM_000238.4:c.3208C>TSaudi Arabiachr7:150946999PathogenicLong QT Syndrome 2NG_008916.1:g.35928C>T; NM_000238.4:c.3208C>T; NP_000229.1:p.Gln1070Ter
NM_000238.4:c.967G>ALebanonNC_000007.14:g.150957452C>TUncertain SignificanceBenignLong QT Syndrome 1NG_008916.1:g.25475G>A; NM_000238.4:c.967G>A; NP_000229.1:p.Asp323Asn19947288767551
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