UniProt | Protein Name |
---|---|
Q9H5K3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sensory perception of pain | ||
brain development | ||
neuromuscular process | ||
protein O-linked glycosylation | ||
learning or memory |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
ATP binding | ||
phosphotransferase activity, alcohol group as acceptor | ||
protein binding | ||
carbohydrate kinase activity | ||
protein kinase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050453 | lissencephaly | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050700 | cardiomyopathy | |
DOID:0050777 | Joubert syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0060270 | pontocerebellar hypoplasia type 2D |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
HP:0000176 | Submucous cleft hard palate |
HP:0000193 | Bifid uvula |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000253 | Progressive microcephaly |
HP:0000256 | Macrocephaly |
Disease ID | Disease Name |
---|---|
OMIM:615249 |
|
ORPHA:899 |
|
OMIM:616094 |
|
ORPHA:370959 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103191503 | CALMI45668 | ||
492773 | ZFIN:ZDB-GENE-041114-119 | DANRE06129 | |
103039966 | ASTMX18497 | ||
108263618 | ICTPU27060 | ||
113585802 | ELEEL36161 | ||
100306734 | SALSA69058 | ||
115172928 | SALTR72439 | ||
115552277 | GADMO00629 | ||
100700536 | ORENI69922 | ||
115592631 | SPAAU33589 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024