UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
skeletal system development | ||
sensory perception of sound | ||
phospholipid biosynthetic process | ||
positive regulation of transcription by RNA polymerase II | ||
maintenance of location in cell |
GO Term | Evidence Code | PMID |
---|---|---|
cortical granule | ||
extracellular region | ||
azurophil granule | ||
membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
beta-N-acetylhexosaminidase activity | ||
N-acetyl-beta-D-galactosaminidase activity | ||
acetylglucosaminyltransferase activity | ||
protein binding | ||
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
DOID:0060196 | amyotrophic lateral sclerosis type 4 | |
DOID:0060490 | Schimke immuno-osseous dysplasia | |
DOID:0111064 | autosomal recessive distal hereditary motor neuronopathy 1 | |
DOID:0111154 | postural orthostatic tachycardia syndrome | |
DOID:11120 | psychologic dyspareunia | |
DOID:11155 | hypohidrosis | |
DOID:11156 | anhidrosis | |
DOID:11771 | spontaneous ocular nystagmus |
HPO ID | HPO Term |
---|---|
HP:0002120 | Cerebral cortical atrophy |
HP:0002240 | Hepatomegaly |
HP:0002267 | Exaggerated startle response |
HP:0002311 | Incoordination |
HP:0002376 | Developmental regression |
HP:0002380 | Fasciculations |
HP:0002460 | Distal muscle weakness |
HP:0002493 | Upper motor neuron dysfunction |
HP:0002574 | Episodic abdominal pain |
HP:0003121 | Limb joint contracture |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
106824017 | EQUAS18829 | ||
116815319 | CHEAB20550 | ||
115051948 | ECHNA51674 | ||
115382909 | SALFA12829 | ||
105826593 | PROCO02145 | ||
109065441 | CYPCA15226 | ||
109067062 | CYPCA20529 | ||
103731349 | NANGA23038 | ||
116438283 | CORMO27410 | ||
103263244 | CARSF30711 |
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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