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 |
---|---|---|
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:0050848 | obstructive sleep apnea | |
DOID:0060249 | scoliosis | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 | |
DOID:0110039 | Alzheimer's disease 7 | |
DOID:0110041 | Alzheimer's disease 8 |
HPO ID | HPO Term |
---|---|
HP:0001252 | Hypotonia |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
HP:0001283 | Bulbar palsy |
HP:0001284 | Areflexia |
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001374 | Congenital hip dislocation |
HP:0001382 | Joint hypermobility |
HP:0001446 | Abnormality of the musculature of the upper limbs |
Disease ID | Disease Name |
---|---|
ORPHA:98913 |
|
ORPHA:98914 |
|
OMIM:615120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101612657 | JACJA09189 | ||
117026787 | RHIFE02847 | ||
100219336 | TAEGU12752 | ||
103225827 | CHLSB09519 | ||
108516787 | RHIBE40547 | ||
104673225 | RHIRO40549 | ||
100590158 | NOMLE23125 | ||
114602499 | PODMU32526 | ||
107591095 | SINGR25015 | ||
107593945 | SINGR55766 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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