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:11832 | visual epilepsy | |
DOID:12377 | spinal muscular atrophy | |
DOID:1289 | neurodegenerative disease | |
DOID:13174 | dissociated nystagmus | |
DOID:13709 | premature ejaculation | |
DOID:1432 | blindness | |
DOID:1520 | colon carcinoma | |
DOID:1826 | epilepsy | |
DOID:1875 | impotence | |
DOID:219 | colon cancer |
HPO ID | HPO Term |
---|---|
HP:0000975 | Hyperhidrosis |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001260 | Dysarthria |
HP:0001268 | Mental deterioration |
HP:0001272 | Cerebellar atrophy |
HP:0001278 | Orthostatic hypotension |
HP:0001288 | Gait disturbance |
Disease ID | Disease Name |
---|---|
ORPHA:309155 |
|
OMIM:268800 |
|
ORPHA:309162 |
|
ORPHA:309169 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180533 | WB:WBGene00020509 | ||
31808 | FB:FBgn0041629 | ||
38528 | FB:FBgn0041630 | ||
250735 | FB:FBgn0045063 | ||
100178428 | CIOIN07063 | ||
100187142 | CIOIN07062 | ||
103186366 | CALMI34542 | ||
102348190 | LATCH03984 | ||
323613 | ZFIN:ZDB-GENE-030131-2333 | DANRE36168 | |
103025028 | ASTMX12396 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024