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:0002792 | Reduced vital capacity |
HP:0002804 | Arthrogryposis multiplex congenita |
HP:0002870 | Obstructive sleep apnea |
HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
HP:0002875 | Exertional dyspnea |
HP:0002878 | Respiratory failure |
HP:0002882 | Sudden episodic apnea |
HP:0003202 | Skeletal muscle atrophy |
HP:0003306 | Spinal rigidity |
HP:0003324 | Generalized muscle weakness |
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