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 |
---|---|---|
endoplasmic reticulum membrane |
|
|
mitochondrial outer membrane | ||
nuclear membrane | ||
nucleoplasm |
|
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:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000467 | Neck muscle weakness |
HP:0001265 | Hyporeflexia |
HP:0001284 | Areflexia |
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001919 | Acute kidney injury |
HP:0001945 | Fever |
HP:0002153 | Hyperkalemia |
Disease ID | Disease Name |
---|---|
ORPHA:99845 |
|
OMIM:268200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101137414 | GORGO25303 | ||
100971417 | PANPA24296 | ||
459036 | PANTR27071 | ||
100458857 | PONAB23232 | ||
475670 | CANLF04886 | ||
123778545 | URSAM03740 | ||
100465923 | AILME09234 | ||
101690413 | MUSPF16295 | ||
101085623 | FELCA05952 | ||
122216612 | PANLE01951 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024