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: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 |
---|---|---|---|
101326204 | TURTR16116 | ||
118906091 | BALMU05529 | ||
100660001 | LOXAF12715 | ||
100072273 | HORSE10125 | ||
100170845 | PIGXX22538 | ||
102180603 | CAPHI02250 | ||
101120647 | SHEEP13534 | ||
100346262 | RABIT08810 | ||
127490351 | RABIT08810 | ||
105983717 | DIPOR03243 |
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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