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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
heparan sulfate proteoglycan 2
Summary
- Gene Symbol
-
- HSPG2
- Aliases
-
- PRCAN
- endorepellin
- perlecan
- perlecan proteoglycan
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Angiogenesis
- Basement membrane
- Calcium
- Direct protein sequencing
- Disease variant
- Disulfide bond
- EGF-like domain
- Heparan sulfate
- Immunoglobulin domain
- Laminin EGF-like domain
- Metal-binding
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P98160 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell differentiation |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| Golgi lumen |
|
|
| basement membrane |
|
|
| plasma membrane |
|
|
| focal adhesion |
GO Hierarchy
| 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 |
GO Hierarchy
KEGG BRITE Database
Disease
- Disease Ontology
| 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 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0003811 | Neonatal death |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004325 | Decreased body weight |
| HP:0004326 | Cachexia |
| HP:0004374 | Hemiplegia/hemiparesis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:1606 |
|
| ORPHA:800 |
|
| ORPHA:1865 |
|
| OMIM:255800 |
|
| OMIM:224410 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| 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 |
