UniProt | Protein Name |
---|---|
P16112 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cell adhesion |
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:0090078 | hypogonadotropic hypogonadism 7 with or without anosmia | |
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 | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000272 | Malar flattening |
HP:0000303 | Mandibular prognathia |
HP:0000358 | Posteriorly rotated ears |
HP:0000368 | Low-set, posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000470 | Short neck |
HP:0000926 | Platyspondyly |
HP:0001156 | Brachydactyly |
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 |
---|---|---|---|
698498 | MACMU41840 | ||
105488344 | MACNE37567 | ||
105544073 | MANLE22247 | ||
101140474 | GORGO10321 | ||
100969652 | PANPA14076 | ||
453629 | PANTR11097 | ||
403828 | CANLF12043 | ||
112921800 | VULVU01672 | ||
101691264 | MUSPF08695 | ||
101084542 | FELCA14561 |
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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