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:8534 | gastroesophageal reflux disease | |
DOID:8927 | learning disability | |
DOID:9119 | acute myeloid leukemia | |
DOID:9220 | central sleep apnea | |
DOID:9649 | congenital nystagmus | |
DOID:9650 | pathologic nystagmus | |
DOID:9840 | esotropia | |
DOID:9923 | developmental coordination disorder |
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 |
---|---|---|---|
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