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:5076 | mixed glioma | |
DOID:5082 | liver cirrhosis | |
DOID:526 | human immunodeficiency virus infectious disease | |
DOID:557 | kidney disease | |
DOID:5672 | large intestine cancer | |
DOID:5679 | retinal disease | |
DOID:635 | acquired immunodeficiency syndrome | |
DOID:655 | inherited metabolic disorder | |
DOID:713 | HCL-V | |
DOID:7148 | rheumatoid arthritis |
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 |
---|---|---|---|
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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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