|
Gene id |
3757 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KCNH2 Gene UCSC Ensembl |
|
Aliases |
ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1 |
|
Gene name |
potassium voltage-gated channel subfamily H member 2 |
|
Alternate names |
potassium voltage-gated channel subfamily H member 2, eag homolog, eag-related protein 1, ether-a-go-go-related gene potassium channel 1, ether-a-go-go-related potassium channel protein, ether-a-go-go-related protein 1, human ether-a-go-go-related, long QT syndr, |
|
Gene location |
7q36.1 (38749816: 38733897) Exons: 13 NC_000017.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
152427 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Long QT syndrome | KEGG:H00720 |
| Short QT syndrome | KEGG:H00725 |
| Long QT syndrome | KEGG:H00720 |
| Short QT syndrome | KEGG:H00725 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Hypospermatogenesis | MIK: 28361989 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28361989 |
Hyposperma
togenesis
|
|
|
6 (3 controls,
3 Klienfelter s
yndrome
|
Male infertility |
Microarray
|
Show abstract |
|