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:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N |
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 | SALSA35668 | ||
115176072 | SALTR04356 | ||
115536132 | GADMO34018 |
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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