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:10003 | sensorineural hearing loss | |
DOID:10293 | monocular esotropia | |
DOID:1059 | intellectual disability | |
DOID:10652 | Alzheimer's disease | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:11870 | Pick's disease | |
DOID:11963 | esophagitis | |
DOID:12506 | Bell's palsy | |
DOID:13174 | dissociated nystagmus |
HPO ID | HPO Term |
---|---|
HP:0002093 | Respiratory insufficiency |
HP:0002194 | Delayed gross motor development |
HP:0002205 | Recurrent respiratory infections |
HP:0002329 | Drowsiness |
HP:0002355 | Difficulty walking |
HP:0002392 | EEG with polyspike wave complexes |
HP:0002421 | Poor head control |
HP:0002515 | Waddling gait |
HP:0002650 | Scoliosis |
HP:0002751 | Kyphoscoliosis |
Disease ID | Disease Name |
---|---|
ORPHA:98913 |
|
ORPHA:98914 |
|
OMIM:615120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103252923 | CARSF30906 | ||
115617376 | STRHB16499 |
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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