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:0050453 | lissencephaly | |
DOID:0050463 | campomelic dysplasia | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0080033 | craniometaphyseal dysplasia | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0080102 | congenital myopathy 4A |
HPO ID | HPO Term |
---|---|
HP:0002169 | Clonus |
HP:0002187 | Intellectual disability, profound |
HP:0002194 | Delayed gross motor development |
HP:0002198 | Dilated fourth ventricle |
HP:0002269 | Abnormality of neuronal migration |
HP:0002282 | Gray matter heterotopia |
HP:0002334 | Abnormal cerebellar vermis morphology |
HP:0002335 | Agenesis of cerebellar vermis |
HP:0002350 | Cerebellar cyst |
HP:0002353 | EEG abnormality |
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 |
---|---|---|---|
108698503 | Xenbase:XB-GENE-17338998 | ||
100145309 | Xenbase:XB-GENE-964270 | ||
101939213 | CHRPI21632 | ||
113446054 | PSETE18986 | ||
100083058 | ORNAN22483 | ||
100385568 | CALJA23866 | ||
105595190 | CERAT28400 | ||
716804 | MACMU17987 | ||
105478591 | MACNE39647 | ||
101014394 | PAPAN23094 |
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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