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Gene

KCNH2

potassium voltage-gated channel subfamily H member 2

Summary

Cytogenetic location
7q36.1
Coordinates
Chromosome 7: 150,944,961–150,978,321 (GRCh38)
Exons
15 exons across 33.4 kb
Protein
1,159 amino acids
Inheritance
Autosomal dominant
Also known as
Kv11.1, HERG, erg1
Previous symbols
LQT2
MANE Select transcript
ENST00000262186.10NM_000238.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Long QT Syndrome

    • A disorder of cardiac repolarisation marked by a prolonged QT interval and a risk of dangerous ventricular arrhythmias such as torsades de pointes.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Beta-blockers, ICD placement, activity restriction, genetic counseling

  • Short Qt Syndrome

    • Autosomal dominant

      A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How KCNH2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 7, with a bracket where KCNH2 sits. KCNH2 and 32 genes near it on chromosome 7, from 150,461,641 to 151,461,640.Chromosome 77q36.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3150.6 Mb150.8 Mb151 Mb151.2 Mb151.4 MbGIMAP8: 150,450,624–150,479,395, forward strandGIMAP8GIMAP7: 150,514,852–150,521,073, forward strandGIMAP7GIMAP4: 150,567,242–150,574,512, forward strandGIMAP4GIMAP6: 150,625,375–150,632,651, reverse strandGIMAP6GIMAP2: 150,685,647–150,694,763, forward strandGIMAP2GIMAP1: 150,716,606–150,724,284, forward strandGIMAP1GIMAP1-GIMAP5: 150,716,668–150,743,646, forward strandGIMAP1-GIMAP5GIMAP5: 150,722,253–150,750,033, forward strandGIMAP5TMEM176B: 150,789,455–150,823,877, reverse strandTMEM176BTMEM176A: 150,799,598–150,805,122, forward strandTMEM176AAOC1: 150,824,627–150,872,465, forward strandAOC1KCNH2: 150,944,961–150,978,321, reverse strandKCNH2NOS3: 150,991,017–151,015,653, forward strandNOS3ATG9B: 151,012,209–151,024,499, reverse strandATG9BABCB8: 151,028,422–151,047,782, forward strandABCB8ASIC3: 151,048,292–151,052,756, forward strandASIC3CDK5: 151,051,517–151,057,952, reverse strandCDK5SLC4A2: 151,057,210–151,076,527, forward strand: 151,061,928–151,061,978, forward strandFASTK: 151,076,585–151,080,881, reverse strandTMUB1: 151,081,082–151,083,533, reverse strandAGAP3: 151,085,831–151,144,450, forward strandAGAP3GBX1: 151,147,669–151,174,745, reverse strandGBX1ASB10: 151,175,684–151,187,832, reverse strandASB10DRC11L: 151,190,873–151,205,496, reverse strandDRC11LH2BK1: 151,207,416–151,210,488, reverse strandH2BK1ABCF2-H2BK1: 151,207,837–151,227,166, reverse strandABCF2: 151,211,484–151,227,264, reverse strandCHPF2: 151,232,483–151,240,979, forward strandSMARCD3: 151,238,764–151,277,896, reverse strandNUB1: 151,341,704–151,381,097, forward strandNUB1WDR86: 151,375,909–151,410,727, reverse strandWDR86CRYGN: 151,428,293–151,440,813, reverse strandCRYGNDiagram of KCNH2: 15 exons on the reverse strand of chromosome 7Exon 15: 4 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 13: 33 known disease-causing sitesExon 12: 43 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 10: 23 known disease-causing sitesExon 9: 23 known disease-causing sitesExon 8: 33 known disease-causing sitesExon 7: 96 known disease-causing sitesExon 6: 42 known disease-causing sitesExon 5: 15 known disease-causing sitesExon 4: 46 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 2: 52 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 15: 150,944,961–150,945,514, 554 basesExon 14: 150,946,877–150,947,054, 178 basesExon 13: 150,947,328–150,947,514, 187 bases. 6 variants with a page in exon 13. List themExon 12: 150,947,606–150,947,878, 273 bases. 5 variants with a page in exon 12. List themExon 11: 150,948,444–150,948,543, 100 basesExon 10: 150,948,856–150,949,049, 194 bases. 5 variants with a page in exon 10. List themExon 9: 150,950,168–150,950,420, 253 bases. 4 variants with a page in exon 9. List themExon 8: 150,950,921–150,951,120, 200 bases. 3 variants with a page in exon 8. List themExon 7: 150,951,448–150,951,835, 388 bases. 13 variants with a page in exon 7. List themExon 6: 150,952,425–150,952,853, 429 bases. 7 variants with a page in exon 6. List themExon 5: 150,957,291–150,957,502, 212 bases. 2 variants with a page in exon 5. List themExon 4: 150,958,059–150,958,502, 444 bases. 1 variant with a page in exon 4. List themExon 3: 150,959,572–150,959,736, 165 basesExon 2: 150,974,711–150,974,941, 231 bases. 4 variants with a page in exon 2. List themExon 1: 150,977,838–150,978,321, 484 bases. 1 variant with a page in exon 1. List them15141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.3 kb of the gene's 33.4 kb; 3,480 of those bases code for the protein.

How a genome test reads KCNH2

499

positions in KCNH2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 33.4 kb of KCNH2, introns included, not only the 4.3 kb of exons.

Variants with a page (54)

The KCNH2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A490Tc.1468G>AExon 6150,952,514Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A614Vc.1841C>TExon 7150,951,552Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A715Gfs*7c.2144_2145delIntron 8150,950,920Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1128G>AExon 5150,957,291Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2398+5G>TIntron 9150,950,163Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2966-2A>GIntron 12150,947,516Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
D509Nc.1525G>AExon 6150,952,457Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
D837Gc.2510A>GExon 10150,948,938Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E23Xc.66dupExon 1150,977,847Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E58Kc.172G>AExon 2150,974,846Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 54 KCNH2 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). KCNH2 gene: potassium voltage-gated channel subfamily H member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnh2

Vancouver

Dante Labs. KCNH2 gene: potassium voltage-gated channel subfamily H member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnh2

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