The KCNH2 gene homepage
| General information |
| Gene symbol |
KCNH2 |
| Gene name |
potassium voltage-gated channel, subfamily H (eag-related), member 2 |
| Chromosome |
7 |
| Chromosomal band |
q36.1 |
| Imprinted |
- |
| Genomic reference |
NG_008916.1 |
| Transcript reference |
NM_000238.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
996 |
| Unique public DNA variants reported |
696 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: ERG1; HERG; LQT2; SQT1; HERG1; Kv11.1 |
| Date created |
October 20, 2009 |
Active transcripts
| Copyright & disclaimer |
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