UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
maintenance of protein localization in endoplasmic reticulum | ||
pentose metabolic process | ||
protein O-linked mannosylation | ||
protein import | ||
camera-type eye development |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
extracellular space | ||
sarcolemma | ||
Golgi apparatus | ||
skeletal muscle myofibril |
GO Term | Evidence Code | PMID |
---|---|---|
dystroglycan binding | ||
laminin binding | ||
metal ion binding | ||
protein binding | ||
phosphotransferase activity, for other substituted phosphate groups |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | NP_001020849 | NM_001025678 |
Drosophila melanogaster | NP_611531 | NM_137687 |
Mus musculus | NP_775606 | NM_173430 |
DO ID | Disease Name | Source |
---|---|---|
DOID:12930 | dilated cardiomyopathy | |
DOID:12932 | endomyocardial fibrosis | |
DOID:13934 | facial paralysis | |
DOID:14159 | obstructive hydrocephalus | |
DOID:1432 | blindness | |
DOID:14524 | senile degeneration of brain | |
DOID:14686 | Axenfeld-Rieger syndrome | |
DOID:14717 | centronuclear myopathy | |
DOID:14766 | renal agenesis | |
DOID:1573 | communicating hydrocephalus |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000050 | Hypoplastic male external genitalia |
HP:0000054 | Micropenis |
HP:0000110 | Renal dysplasia |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
HP:0000176 | Submucous cleft hard palate |
HP:0000193 | Bifid uvula |
HP:0000204 | Cleft upper lip |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:34515 |
|
OMIM:606612 |
|
ORPHA:899 |
|
ORPHA:370968 |
|
OMIM:236670 |
|
ORPHA:370959 |
|
OMIM:607155 |
|
OMIM:613153 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100659032 | LOXAF18020 | ||
102148152 | HORSE02583 | ||
100516858 | PIGXX28123 | ||
539701 | BOVIN11379 | ||
102170263 | CAPHI09282 | ||
100356414 | RABIT16891 | ||
243853 | MGI:2447586 | MOUSE52420 | |
308390 | RGD:1305852 | RATNO19055 | |
100717803 | CAVPO20445 | ||
101576998 | OCTDE23097 |
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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