UniProt | Protein Name |
---|---|
Q14693 |
|
GO Term | Evidence Code | PMID |
---|---|---|
animal organ regeneration | ||
triglyceride biosynthetic process | ||
positive regulation of transcription by RNA polymerase II | ||
fatty acid catabolic process | ||
positive regulation of cold-induced thermogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
|
|
mitochondrial outer membrane | ||
nuclear membrane | ||
nucleoplasm |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidate phosphatase activity | ||
transcription coactivator activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110151 | Charcot-Marie-Tooth disease type 1C | |
DOID:0110152 | Charcot-Marie-Tooth disease type 1B | |
DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
DOID:0050782 | Zollinger-Ellison syndrome | |
DOID:0060067 | Pearson syndrome | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies |
HPO ID | HPO Term |
---|---|
HP:0003558 | Viral infection-induced rhabdomyolysis |
HP:0003621 | Juvenile onset |
HP:0003652 | Recurrent myoglobinuria |
HP:0003738 | Exercise-induced myalgia |
HP:0005216 | Impaired mastication |
HP:0005521 | Disseminated intravascular coagulation |
HP:0007340 | Lower limb muscle weakness |
HP:0008305 | Exercise-induced myoglobinuria |
HP:0008942 | Acute rhabdomyolysis |
HP:0008997 | Proximal muscle weakness in upper limbs |
Disease ID | Disease Name |
---|---|
ORPHA:99845 |
|
OMIM:268200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
116441836 | CORMO18299 | ||
103255848 | CARSF19229 | ||
115609764 | STRHB17217 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024