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:0009005 | Weakness of the intrinsic hand muscles |
HP:0009046 | Difficulty running |
HP:0009053 | Distal lower limb muscle weakness |
HP:0009077 | Weakness of long finger extensor muscles |
HP:0010307 | Stridor |
HP:0010536 | Central sleep apnea |
HP:0010628 | Facial palsy |
HP:0011463 | Childhood onset |
HP:0011469 | Nasal regurgitation |
HP:0011968 | Feeding difficulties |
Disease ID | Disease Name |
---|---|
ORPHA:98913 |
|
ORPHA:98914 |
|
OMIM:615120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101941018 | CHRPI32806 | ||
109314435 | CROPO20666 | ||
113446223 | PSETE19312 | ||
100089926 | ORNAN21997 | ||
100385349 | CALJA39643 | ||
105572444 | CERAT45108 | ||
700400 | MACMU24646 | ||
105498298 | MACNE45242 | ||
101024235 | PAPAN18386 | ||
105555186 | MANLE37905 |
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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