UniProt | Protein Name |
---|---|
O00468 |
|
GO Term | Evidence Code | PMID |
---|---|---|
G protein-coupled acetylcholine receptor signaling pathway |
|
|
cytoskeleton organization | ||
positive regulation of transcription by RNA polymerase II | ||
positive regulation of synaptic assembly at neuromuscular junction | ||
synapse organization |
|
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:1324 | lung cancer | |
DOID:1389 | polyneuropathy | |
DOID:13934 | facial paralysis | |
DOID:13976 | peptic esophagitis | |
DOID:14402 | critical illness polyneuropathy | |
DOID:1443 | cerebral degeneration | |
DOID:14525 | Reye syndrome | |
DOID:162 | cancer | |
DOID:1756 | facial nerve disease | |
DOID:1826 | epilepsy |
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 |
---|---|---|---|
106845249 | EQUAS30765 | ||
116824593 | CHEAB03029 | ||
105309829 | PTEVA06596 | ||
115045945 | ECHNA02331 | ||
115408572 | SALFA40670 | ||
113487803 | ATHCN19216 | ||
105820950 | PROCO29207 | ||
109045062 | CYPCA127769 | ||
109045073 | CYPCA118530 | ||
116454589 | CORMO10912 |
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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