|
Gene id |
54101 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RIPK4 Gene UCSC Ensembl |
|
Aliases |
ANKK2, ANKRD3, CHANDS, DIK, NKRD3, PKK, PPS2, RIP4 |
|
Gene name |
receptor interacting serine/threonine kinase 4 |
|
Alternate names |
receptor-interacting serine/threonine-protein kinase 4, PKC-delta-interacting protein kinase, ankyrin repeat domain-containing protein 3, protein kinase C-associated kinase, serine/threonine-protein kinase ANKRD3, |
|
Gene location |
21q22.3 (41767051: 41739372) Exons: 15 NC_000021.9
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [
|
|
OMIM |
605706 |
|
| Associated diseases |
References |
| Lethal-type popliteal pterygium syndrome | KEGG:H01931 |
| Lethal-type popliteal pterygium syndrome | KEGG:H01931 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|