UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
response to alcohol | ||
connective tissue replacement | ||
basement membrane organization | ||
response to glucocorticoid | ||
phosphatidylinositol 3-kinase/protein kinase B signal transduction |
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:0060287 | cornea plana | |
DOID:0060305 | megalocornea | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060673 | Peters anomaly | |
DOID:0060674 | catecholaminergic polymorphic ventricular tachycardia | |
DOID:0060675 | catecholaminergic polymorphic ventricular tachycardia 1 | |
DOID:0060676 | catecholaminergic polymorphic ventricular tachycardia 2 | |
DOID:0060677 | catecholaminergic polymorphic ventricular tachycardia 3 | |
DOID:0060678 | catecholaminergic polymorphic ventricular tachycardia 4 | |
DOID:0060679 | catecholaminergic polymorphic ventricular tachycardia 5 |
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 |
---|---|---|---|
115384564 | SALFA47290 | ||
115400562 | SALFA47290 | ||
105817643 | PROCO06230 | ||
109103823 | CYPCA93070 | ||
109104273 | CYPCA113869 | ||
103724683 | NANGA21283 | ||
115603245 | STRHB06506 |
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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