UniProt | Protein Name |
---|---|
A0A7P0MRI8 |
|
Q15147 |
|
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled receptor signaling pathway |
|
|
release of sequestered calcium ion into cytosol | ||
phosphatidylinositol metabolic process | ||
phosphatidylinositol-mediated signaling | ||
lipid catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol |
|
|
plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
phospholipase C activity |
|
|
calcium ion binding | ||
protein binding | ||
phosphatidylinositol phospholipase C activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
DOID:0050742 | nicotine dependence | |
DOID:0050848 | obstructive sleep apnea | |
DOID:0050908 | myelodysplastic syndrome | |
DOID:0060260 | ptosis | |
DOID:6873 | skin tag | |
DOID:0060261 | congenital ptosis | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
DOID:0070309 | absence epilepsy |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000160 | Narrow mouth |
HP:0000162 | Glossoptosis |
HP:0000171 | Microglossia |
HP:0000175 | Cleft palate |
HP:0000183 | Difficulty in tongue movements |
HP:0000193 | Bifid uvula |
HP:0000256 | Macrocephaly |
HP:0000293 | Full cheeks |
Disease ID | Disease Name |
---|---|
OMIM:614669 |
|
ORPHA:137888 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115401553 | SALFA04742 | ||
113478160 | ATHCN05098 | ||
103381059 | CYNSE26702 | ||
105806182 | PROCO15940 | ||
855860 | SGD:S000006189 | ||
109084104 | CYPCA103431 | ||
116441610 | CORMO17422 | ||
103261218 | CARSF12594 | ||
115609999 | STRHB17594 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024