UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
G2/M transition of mitotic cell cycle | ||
signal transduction | ||
G protein-coupled receptor signaling pathway | ||
G protein-coupled receptor signaling pathway | ||
phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol phospholipase C activity | ||
phosphatidylinositol phospholipase C activity | ||
phosphatidylinositol phospholipase C activity | ||
phosphatidylinositol phospholipase C activity | ||
phospholipase C activity |
Gene Ontology |
---|
hydrolase activity |
lipid metabolic process |
phosphatidylinositol phospholipase C activity |
phosphatidylinositol-mediated signaling |
release of sequestered calcium ion into cytosol |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050908 | myelodysplastic syndrome | |
DOID:0080459 | developmental and epileptic encephalopathy 12 |
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:3451 |
|
OMIM:613722 |
|
ORPHA:293181 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
5330 | SGD:S000006189 | ||
5331 | SGD:S000006189 | ||
5332 | SGD:S000006189 | ||
5333 | SGD:S000006189 | ||
5334 | SGD:S000006189 | ||
5335 | SGD:S000006189 | ||
5336 | SGD:S000006189 | ||
9651 | SGD:S000006189 | ||
18795 | MOUSE35321 | ||
18797 | SGD:S000006189 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025