UniProt | Protein Name |
---|---|
P16112 |
|
GO Term | Evidence Code | PMID |
---|---|---|
skeletal system development | ||
proteolysis |
|
|
glial cell differentiation | ||
central nervous system development | ||
positive regulation of neuroblast proliferation |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region |
|
|
Golgi lumen |
|
|
perineuronal net | ||
synapse | ||
collagen-containing extracellular matrix |
GO Term | Evidence Code | PMID |
---|---|---|
extracellular matrix structural constituent conferring compression resistance | ||
hyaluronic acid binding | ||
metal ion binding | ||
carbohydrate binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
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 |
HPO ID | HPO Term |
---|---|
HP:0001382 | Joint hypermobility |
HP:0001552 | Barrel-shaped chest |
HP:0001597 | Abnormality of the nail |
HP:0001609 | Hoarse voice |
HP:0002007 | Frontal bossing |
HP:0002515 | Waddling gait |
HP:0002651 | Spondyloepimetaphyseal dysplasia |
HP:0002655 | Spondyloepiphyseal dysplasia |
HP:0002750 | Delayed skeletal maturation |
HP:0002758 | Osteoarthritis |
Disease ID | Disease Name |
---|---|
ORPHA:171866 |
|
ORPHA:435804 |
|
OMIM:608361 |
|
OMIM:165800 |
|
OMIM:612813 |
|
ORPHA:93283 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
497505 | ZFIN:ZDB-GENE-050208-221 | ||
559593 | ZFIN:ZDB-GENE-100422-16 | ||
108710307 | Xenbase:XB-GENE-6486824 | ||
108712312 | Xenbase:XB-GENE-17345141 | ||
100216104 | Xenbase:XB-GENE-5991711 | ||
100491091 | Xenbase:XB-GENE-921494 | ||
101939274 | CHRPI05724 | ||
109309120 | CROPO16116 | ||
100549278 | MELGA03192 | ||
105592419 | CERAT35297 |
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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