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:3112 | papillary adenocarcinoma | |
DOID:3635 | congenital myasthenic syndrome | |
DOID:3910 | lung adenocarcinoma | |
DOID:3969 | thyroid gland papillary carcinoma | |
DOID:4090 | agnosia | |
DOID:4465 | papillary renal cell carcinoma | |
DOID:4766 | embryoma | |
DOID:539 | ophthalmoplegia | |
DOID:681 | progressive bulbar palsy | |
DOID:8488 | polyhydramnios |
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 |
---|---|---|---|
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