|
Gene id |
8493 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PPM1D Gene UCSC Ensembl |
|
Aliases |
IDDGIP, JDVS, PP2C-DELTA, WIP1 |
|
Gene name |
protein phosphatase, Mg2+/Mn2+ dependent 1D |
|
Alternate names |
protein phosphatase 1D, protein phosphatase 1D magnesium-dependent, delta isoform, protein phosphatase 2C delta isoform, protein phosphatase Wip1, wild-type p53-induced phosphatase 1, |
|
Gene location |
17q23.2 (60600182: 60666279) Exons: 7 NC_000068.7
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in
|
|
OMIM |
605100 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa00260 | Glycine, serine and threonine metabolism | | hsa04115 | p53 signaling pathway | | hsa04115 | p53 signaling pathway | |
|
| Associated diseases |
References |
| Sperm maturation arrest | MIK: 30629479 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Male fertility | MIK: 30629479 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 30629479 |
Sperm matu
ration, ma
le fertili
ty
|
|
|
|
Male infertility |
PRM2
PIWIL1
PRM2
ODF1
PIWIL1
|
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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
| 30361445 |
Male subfe
rtility
|
|
|
|
Male infertility |
|
Show abstract |
|