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:0080108 | myoglobinuria | |
DOID:0080155 | very long chain acyl-CoA dehydrogenase deficiency | |
DOID:0080199 | colorectal carcinoma | |
DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
DOID:0110148 | Charcot-Marie-Tooth disease type 1A | |
DOID:0110149 | Charcot-Marie-Tooth disease type 1F | |
DOID:0110150 | Charcot-Marie-Tooth disease type 1D | |
DOID:0110153 | Charcot-Marie-Tooth disease type 1E | |
DOID:0110154 | Charcot-Marie-Tooth disease type 2A1 | |
DOID:0110155 | Charcot-Marie-Tooth disease type 2A2A |
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 |
---|---|---|---|
101818585 | FICAL09450 | ||
103220794 | CHLSB04534 | ||
108516505 | RHIBE04342 | ||
104678388 | RHIRO23664 | ||
100586976 | NOMLE15967 | ||
114593807 | PODMU17283 | ||
106835604 | EQUAS08709 | ||
105814030 | PROCO24859 | ||
855201 | SGD:S000004775 | ||
103747602 | NANGA00334 |
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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