|
Gene id |
27347 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
STK39 Gene UCSC Ensembl |
|
Aliases |
DCHT, PASK, SPAK |
|
Gene name |
serine/threonine kinase 39 |
|
Alternate names |
STE20/SPS1-related proline-alanine-rich protein kinase, STE20/SPS1 homolog, Ste20-like protein kinase, proline-alanine-rich STE20-related kinase, serine threonine kinase 39 (STE20/SPS1 homolog, yeast), serine/threonine-protein kinase 39, small intestine SPAK-li, |
|
Gene location |
2q24.3 (168247594: 167954019) Exons: 23 NC_000019.10
|
|
Gene summary(Entrez) |
This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The cat
|
|
OMIM |
607648 |
|
| Associated diseases |
References |
| Parkinson disease | GAD: 21292315 |
| Autism | GAD: 18348195 |
| Spermatogenesis defects | MIK: 27853306 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Important for Spermatogenesis | MIK: 27853306 |
| Male infertility | MIK: 27853306 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27853306 |
Important
for Sperma
togenesis,
Male infe
rtility
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 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 |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|