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: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 |
---|---|---|---|
101941018 | CHRPI32806 | ||
109314435 | CROPO20666 | ||
113446223 | PSETE19312 | ||
100089926 | ORNAN21997 | ||
100385349 | CALJA39643 | ||
105572444 | CERAT45108 | ||
700400 | MACMU24646 | ||
105498298 | MACNE45242 | ||
101024235 | PAPAN18386 | ||
105555186 | MANLE37905 |
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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