UniProt | Protein Name |
---|---|
Q86TM7 |
|
A0A140VJI4 |
|
Q9P2X0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
carbohydrate metabolic process | ||
GPI anchor biosynthetic process | ||
protein mannosylation | ||
protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan | ||
dolichol metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme activator activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Mus musculus | NP_081043 | NM_026767 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0050700 | cardiomyopathy | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001270 | Motor delay |
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001644 | Dilated cardiomyopathy |
HP:0001763 | Pes planus |
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0002187 | Intellectual disability, profound |
HP:0002317 | Unsteady gait |
HP:0002401 | Stroke-like episode |
Disease ID | Disease Name |
---|---|
OMIM:618992 |
|
OMIM:612937 |
|
ORPHA:263494 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178189 | WB:WBGene00009219 | ||
3885575 | FB:FBgn0053977 | ||
102359635 | LATCH05546 | ||
393782 | ZFIN:ZDB-GENE-040426-1782 | DANRE14890 | |
103044152 | ASTMX14208 | ||
108273216 | ICTPU03757 | ||
105027146 | ESOLU27863 | ||
100195960 | SALSA72865 | ||
115176072 | SALTR04356 | ||
115536132 | GADMO34018 |
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: August 19, 2024