|
Gene id |
3762 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
KCNJ5 Gene UCSC Ensembl |
|
Aliases |
CIR, GIRK4, KATP1, KIR3.4, LQT13 |
|
Gene name |
potassium inwardly rectifying channel subfamily J member 5 |
|
Alternate names |
G protein-activated inward rectifier potassium channel 4, IRK-4, cardiac ATP-sensitive potassium channel, heart KATP channel, inward rectifier K+ channel KIR3.4, potassium channel, inwardly rectifying subfamily J, member 5, potassium voltage-gated channel subfa, |
|
Gene location |
11q24.3 (128891355: 128921162) Exons: 5 NC_000022.11
|
|
Gene summary(Entrez) |
This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric
|
|
OMIM |
600734 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Long QT syndrome | KEGG: H00720 |
| Primary aldosteronism | KEGG: H01603 |
| Male subfertility | MIK: 28566207 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Male subfertility | MIK: 28566207 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28566207 |
Male subfe
rtility
|
Methylation studies |
|
108 (21 proven
fertile "contro
ls", and 57 sub
fertile "cases"
)
|
Male infertility |
|
Show 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 |
|