UniProt | Protein Name |
---|---|
O00468 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of filopodium assembly | ||
neuromuscular junction development | ||
signal transduction |
|
|
positive regulation of GTPase activity | ||
receptor clustering |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region |
|
|
Golgi lumen |
|
|
basement membrane | ||
synapse | ||
plasma membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
dystroglycan binding | ||
laminin binding |
|
|
chondroitin sulfate binding | ||
calcium ion binding | ||
heparan sulfate proteoglycan binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:10003 | sensorineural hearing loss | |
DOID:10293 | monocular esotropia | |
DOID:1059 | intellectual disability | |
DOID:10652 | Alzheimer's disease | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:11870 | Pick's disease | |
DOID:11963 | esophagitis | |
DOID:12506 | Bell's palsy | |
DOID:13174 | dissociated nystagmus |
HPO ID | HPO Term |
---|---|
HP:0003325 | Limb-girdle muscle weakness |
HP:0003388 | Easy fatigability |
HP:0003402 | Decreased miniature endplate potentials |
HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
HP:0003443 | Decreased size of nerve terminals |
HP:0003458 | EMG: myopathic abnormalities |
HP:0003473 | Fatigable weakness |
HP:0003484 | Upper limb muscle weakness |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0003693 | Distal amyotrophy |
Disease ID | Disease Name |
---|---|
ORPHA:98913 |
|
ORPHA:98914 |
|
OMIM:615120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
3565243 | WB:WBGene00018304 | ||
103187444 | CALMI36764 | ||
565373 | ZFIN:ZDB-GENE-030131-1033 | DANRE23955 | |
115166082 | SALTR86027 | ||
115168970 | SALTR75277 | ||
109196113 | ORENI38708 | ||
115584465 | SPAAU52529 | ||
108696525 | Xenbase:XB-GENE-6488235 | ||
108697619 | Xenbase:XB-GENE-17345505 | ||
100492176 | Xenbase:XB-GENE-953967 |
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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