UniProt | Protein Name |
---|---|
O00468 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cytoskeleton organization | ||
signal transduction | ||
G protein-coupled acetylcholine receptor signaling pathway | ||
neuromuscular junction development | ||
receptor clustering |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
basement membrane | ||
Golgi lumen | ||
plasma membrane | ||
lysosomal lumen |
GO Term | Evidence Code | PMID |
---|---|---|
dystroglycan binding | ||
structural constituent of cytoskeleton | ||
extracellular matrix structural constituent | ||
calcium ion binding | ||
protein binding |
Gene Ontology |
---|
calcium ion binding |
receptor clustering |
InterPro |
---|
Concanavalin A-like lectin/glucanase domain superfamily |
EGF-like domain |
Laminin G domain |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110657 | congenital myasthenic syndrome 8 |
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 |
---|---|
OMIM:615120 |
|
ORPHA:98914 |
|
ORPHA:98913 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
11603 | Xenbase:XB-GENE-953967 | MOUSE41401 | |
25592 | Xenbase:XB-GENE-953967 | RATNO33347 | |
375790 | Xenbase:XB-GENE-953967 | ||
479574 | CANLF15710 | ||
525795 | BOVIN08530 | ||
565373 | DANRE23955 | ||
700400 | MACMU24646 | ||
3565243 | Xenbase:XB-GENE-953967 | ||
100066334 | HORSE29112 | ||
100089926 | ORNAN21997 |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: April 7, 2025