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:0110195 | Charcot-Marie-Tooth disease type 4E | |
DOID:0110196 | Charcot-Marie-Tooth disease type 4G | |
DOID:0110197 | Charcot-Marie-Tooth disease dominant intermediate B | |
DOID:0110198 | Charcot-Marie-Tooth disease recessive intermediate C | |
DOID:0110199 | Charcot-Marie-Tooth disease dominant intermediate C | |
DOID:0110200 | Charcot-Marie-Tooth disease dominant intermediate D | |
DOID:0110202 | Charcot-Marie-Tooth disease dominant intermediate A | |
DOID:0110203 | Charcot-Marie-Tooth disease recessive intermediate D | |
DOID:0110204 | Charcot-Marie-Tooth disease recessive intermediate B | |
DOID:0110205 | Charcot-Marie-Tooth disease dominant intermediate E |
HPO ID | HPO Term |
---|---|
HP:0002167 | Abnormality of speech or vocalization |
HP:0002355 | Difficulty walking |
HP:0002901 | Hypocalcemia |
HP:0002905 | Hyperphosphatemia |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0002913 | Myoglobinuria |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003326 | Myalgia |
HP:0003394 | Muscle spasm |
HP:0003554 | Type 2 muscle fiber atrophy |
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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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