UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
interleukin-12-mediated signaling pathway | ||
negative regulation of DNA-templated transcription | ||
inositol trisphosphate metabolic process | ||
ion channel modulating, G protein-coupled receptor signaling pathway | ||
cellular response to vasopressin |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
phosphatidylinositol phospholipase C activity | ||
GTPase activator activity | ||
calmodulin binding | ||
identical protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:162 | cancer | |
DOID:1826 | epilepsy | |
DOID:1837 | diabetic ketoacidosis | |
DOID:219 | colon cancer | |
DOID:2224 | essential thrombocythemia | |
DOID:2234 | focal epilepsy | |
DOID:234 | colon adenocarcinoma | |
DOID:235 | colonic benign neoplasm | |
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2848 | obsolete melancholia |
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 |
---|---|---|---|
33204 | FB:FBgn0004611 | ||
102682351 | LEPOC00682 | ||
103033987 | ASTMX01408 | ||
108270307 | ICTPU35692 | ||
113572657 | ELEEL13338 | ||
105017520 | ESOLU53410 | ||
115174482 | SALTR53071 | ||
100698389 | ORENI20706 | ||
102301989 | HAPBU04671 | ||
113006666 | ASTCA10109 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024