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:0110156 | Charcot-Marie-Tooth disease type 2B1 | |
DOID:0110157 | Charcot-Marie-Tooth disease type 2J | |
DOID:0110158 | Charcot-Marie-Tooth disease type 2I | |
DOID:0110159 | Charcot-Marie-Tooth disease type 2B | |
DOID:0110160 | Charcot-Marie-Tooth disease axonal type 2T | |
DOID:0110161 | Charcot-Marie-Tooth disease type 2R | |
DOID:0110163 | Charcot-Marie-Tooth disease axonal type 2F | |
DOID:0110164 | Charcot-Marie-Tooth disease type 2D | |
DOID:0110165 | Charcot-Marie-Tooth disease type 2E | |
DOID:0110166 | Charcot-Marie-Tooth disease axonal type 2H |
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 |
---|---|---|---|
109311642 | CROPO09692 | ||
103820625 | SERCA02853 | ||
100073354 | ORNAN12815 | ||
100400101 | CALJA10379 | ||
105578618 | CERAT08345 | ||
101926633 | MACFA07981 | ||
697682 | MACMU08292 | ||
105486474 | MACNE28562 | ||
101006008 | PAPAN09390 | ||
105528510 | MANLE06078 |
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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