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 |
---|---|---|
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:0110206 | Charcot-Marie-Tooth disease dominant intermediate F | |
DOID:0110207 | Charcot-Marie-Tooth disease X-linked dominant 6 | |
DOID:0110208 | Charcot-Marie-Tooth disease X-linked recessive 2 | |
DOID:0110209 | Charcot-Marie-Tooth disease X-linked dominant 1 | |
DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | |
DOID:0110211 | Charcot-Marie-Tooth disease X-linked recessive 3 | |
DOID:0110212 | Charcot-Marie-Tooth disease X-linked recessive 4 | |
DOID:0110387 | retinitis pigmentosa 9 | |
DOID:0111135 | congenital generalized lipodystrophy type 1 | |
DOID:0111136 | congenital generalized lipodystrophy type 2 |
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 |
---|---|---|---|
113901554 | BOBOX19203 | ||
100947333 | OTOGA13973 | ||
102008002 | CHILA19216 | ||
105707793 | AOTNA16120 | ||
101043637 | SAIBB12177 | ||
101974557 | ICTTR07205 | ||
101610849 | JACJA17458 | ||
102426579 | MYOLU17280 | ||
117032949 | RHIFE24287 | ||
100231657 | TAEGU21977 |
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Last updated: August 19, 2024