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: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 |
---|---|---|---|
101612657 | JACJA09189 | ||
117026787 | RHIFE02847 | ||
100219336 | TAEGU12752 | ||
103225827 | CHLSB09519 | ||
108516787 | RHIBE40547 | ||
104673225 | RHIRO40549 | ||
100590158 | NOMLE23125 | ||
114602499 | PODMU32526 | ||
107591095 | SINGR25015 | ||
107593945 | SINGR55766 |
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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