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:0110043 | Alzheimer's disease 10 | |
DOID:0110044 | Alzheimer's disease 11 | |
DOID:0110045 | Alzheimer's disease 12 | |
DOID:0110046 | Alzheimer's disease 13 | |
DOID:0110047 | Alzheimer's disease 14 | |
DOID:0110048 | Alzheimer's disease 15 | |
DOID:0110657 | congenital myasthenic syndrome 8 | |
DOID:0110668 | congenital myasthenic syndrome 10 | |
DOID:0111375 | fetal akinesia deformation sequence syndrome | |
DOID:0111377 | fetal akinesia deformation sequence syndrome 1 |
HPO ID | HPO Term |
---|---|
HP:0000597 | Ophthalmoparesis |
HP:0000602 | Ophthalmoplegia |
HP:0000639 | Nystagmus |
HP:0000651 | Diplopia |
HP:0000768 | Pectus carinatum |
HP:0000774 | Narrow chest |
HP:0000961 | Cyanosis |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
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