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 |
---|---|---|
structural constituent of cytoskeleton |
|
|
sialic acid binding | ||
protein binding | ||
extracellular matrix structural constituent |
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: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 |
---|---|---|---|
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