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:0001558 | Decreased fetal movement |
HP:0001561 | Polyhydramnios |
HP:0001611 | Hypernasal speech |
HP:0001612 | Weak cry |
HP:0001618 | Dysphonia |
HP:0001761 | Pes cavus |
HP:0002015 | Dysphagia |
HP:0002020 | Gastroesophageal reflux |
HP:0002033 | Poor suck |
HP:0002091 | Restrictive ventilatory defect |
Disease ID | Disease Name |
---|---|
ORPHA:98913 |
|
ORPHA:98914 |
|
OMIM:615120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100609326 | PANTR41879 | ||
100460940 | PONAB19247 | ||
479574 | CANLF15710 | ||
112926137 | VULVU20377 | ||
100470903 | AILME01476 | ||
101686006 | MUSPF00945 | ||
101101121 | FELCA19900 | ||
117309267 | TURTR02141 | ||
118904417 | BALMU21938 | ||
100066334 | HORSE29112 |
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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