UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
activation of meiosis involved in egg activation | ||
G2/M transition of mitotic cell cycle | ||
positive regulation of insulin secretion | ||
regulation of fertilization | ||
interleukin-1-mediated signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme binding | ||
phospholipase C activity |
|
|
phosphatidylinositol-4,5-bisphosphate binding | ||
calcium ion binding | ||
lamin binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000505 | Visual impairment |
HP:0000707 | Abnormality of the nervous system |
HP:0000826 | Precocious puberty |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001276 | Hypertonia |
HP:0001336 | Myoclonus |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
105981715 | DIPOR03468 | ||
100751979 | CRIGR00465 | ||
18795 | MGI:97613 | MOUSE35321 | |
24654 | RGD:3344 | RATNO26941 | |
100730572 | CAVPO05242 | ||
101582317 | OCTDE12076 | ||
100031660 | MONDO08761 | ||
107097779 | CYPVA02350 | ||
114026690 | VOMUR07323 | ||
113903734 | BOBOX03688 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024