UniProt | Protein Name |
---|---|
P98160 |
|
GO Term | Evidence Code | PMID |
---|---|---|
negative regulation of cell population proliferation | ||
negative regulation of angiogenesis |
|
|
negative regulation of cell adhesion | ||
receptor-mediated endocytosis | ||
smoothened signaling pathway |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
Golgi lumen |
|
|
basement membrane |
|
|
plasma membrane |
|
|
focal adhesion |
GO Term | Evidence Code | PMID |
---|---|---|
low-density lipoprotein particle receptor binding |
|
|
amyloid-beta binding | ||
extracellular matrix structural constituent conferring compression resistance | ||
calcium ion binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
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 | |
DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 |
HPO ID | HPO Term |
---|---|
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
HP:0001288 | Gait disturbance |
HP:0001324 | Muscle weakness |
HP:0001344 | Absent speech |
HP:0001362 | Calvarial skull defect |
HP:0001371 | Flexion contracture |
Disease ID | Disease Name |
---|---|
ORPHA:1606 |
|
ORPHA:800 |
|
ORPHA:1865 |
|
OMIM:255800 |
|
OMIM:224410 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
175126 | WB:WBGene00006787 | ||
45320 | FB:FBgn0284408 | ||
565429 | ZFIN:ZDB-GENE-080807-4 | DANRE24960 | |
100380784 | SALSA43220 | ||
115165633 | SALTR88020 | ||
103467813 | POERE30093 | ||
102290874 | HAPBU05628 | ||
113013483 | ASTCA20652 | ||
108696836 | Xenbase:XB-GENE-17341349 | ||
100494785 | Xenbase:XB-GENE-6465357 |
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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