UniProt | Protein Name |
---|---|
Q9P212 |
|
B7ZM61 |
|
A0A8I5KXT2 |
|
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled receptor signaling pathway | ||
diacylglycerol biosynthetic process | ||
release of sequestered calcium ion into cytosol | ||
positive regulation of lamellipodium assembly | ||
phospholipase C-activating G protein-coupled receptor signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
plasma membrane | ||
lamellipodium | ||
Golgi membrane |
GO Term | Evidence Code | PMID |
---|---|---|
small GTPase binding | ||
guanyl-nucleotide exchange factor activity |
|
|
enzyme binding | ||
phospholipase C activity | ||
metal ion binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110166 | Charcot-Marie-Tooth disease axonal type 2H | |
DOID:0110167 | Charcot-Marie-Tooth disease axonal type 2K | |
DOID:0110168 | Charcot-Marie-Tooth disease type 2Y | |
DOID:0110169 | Charcot-Marie-Tooth disease axonal type 2P | |
DOID:0110170 | Charcot-Marie-Tooth disease axonal type 2Q | |
DOID:0110173 | Charcot-Marie-Tooth disease axonal type 2U | |
DOID:0110174 | Charcot-Marie-Tooth disease axonal type 2L | |
DOID:0110175 | Charcot-Marie-Tooth disease axonal type 2O | |
DOID:0110177 | Charcot-Marie-Tooth disease axonal type 2N | |
DOID:0110179 | Charcot-Marie-Tooth disease type 2B2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000093 | Proteinuria |
HP:0000097 | Focal segmental glomerulosclerosis |
HP:0000100 | Nephrotic syndrome |
HP:0000707 | Abnormality of the nervous system |
HP:0000737 | Irritability |
HP:0000969 | Edema |
HP:0001945 | Fever |
HP:0001967 | Diffuse mesangial sclerosis |
HP:0002027 | Abdominal pain |
Disease ID | Disease Name |
---|---|
ORPHA:656 |
|
OMIM:610725 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100157745 | PIGXX08175 | ||
519037 | BOVIN21216 | ||
102178972 | CAPHI17946 | ||
101105703 | SHEEP11458 | ||
100344504 | RABIT06852 | ||
100754217 | CRIGR07780 | ||
74055 | MGI:1921305 | MOUSE25598 | |
114633 | RGD:69424 | RATNO18849 | |
100721203 | CAVPO23433 | ||
101588282 | OCTDE02808 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024