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 |
---|---|---|
structural constituent of cytoskeleton |
|
|
sialic acid binding | ||
protein binding | ||
extracellular matrix structural constituent |
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:0000007 | Autosomal recessive inheritance |
HP:0000218 | High palate |
HP:0000276 | Long face |
HP:0000308 | Microretrognathia |
HP:0000369 | Low-set ears |
HP:0000407 | Sensorineural hearing impairment |
HP:0000467 | Neck muscle weakness |
HP:0000496 | Abnormality of eye movement |
HP:0000508 | Ptosis |
HP:0000565 | Esotropia |
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