UniProt | Protein Name |
---|---|
P07686 |
|
A0A024RAJ6 |
|
Q5URX0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
oogenesis | ||
male courtship behavior | ||
neuromuscular process controlling balance | ||
regulation of cell shape |
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:3211 | lysosomal storage disease | |
DOID:3320 | Tay-Sachs disease | |
DOID:3321 | GM2 gangliosidosis | |
DOID:3323 | Sandhoff disease | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:3612 | retinitis | |
DOID:3620 | central nervous system cancer | |
DOID:4752 | multiple system atrophy | |
DOID:4795 | GM2 gangliosidosis, AB variant | |
DOID:4873 | anterior horn cell disease |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000020 | Urinary incontinence |
HP:0000158 | Macroglossia |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000618 | Blindness |
HP:0000729 | Autistic behavior |
HP:0000739 | Anxiety |
HP:0000802 | Impotence |
HP:0000966 | Hypohidrosis |
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