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:0110043 | Alzheimer's disease 10 | |
DOID:0110044 | Alzheimer's disease 11 | |
DOID:0110045 | Alzheimer's disease 12 | |
DOID:0110046 | Alzheimer's disease 13 | |
DOID:0110047 | Alzheimer's disease 14 | |
DOID:0110048 | Alzheimer's disease 15 | |
DOID:0110657 | congenital myasthenic syndrome 8 | |
DOID:0110668 | congenital myasthenic syndrome 10 | |
DOID:0111375 | fetal akinesia deformation sequence syndrome | |
DOID:0111377 | fetal akinesia deformation sequence syndrome 1 |
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 |
---|---|---|---|
3565243 | WB:WBGene00018304 | ||
103187444 | CALMI36764 | ||
565373 | ZFIN:ZDB-GENE-030131-1033 | DANRE23955 | |
115166082 | SALTR86027 | ||
115168970 | SALTR75277 | ||
109196113 | ORENI38708 | ||
115584465 | SPAAU52529 | ||
108696525 | Xenbase:XB-GENE-6488235 | ||
108697619 | Xenbase:XB-GENE-17345505 | ||
100492176 | Xenbase:XB-GENE-953967 |
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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