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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:0060277 | pontocerebellar hypoplasia type 8 | |
| DOID:0060278 | pontocerebellar hypoplasia type 9 | |
| DOID:0060287 | cornea plana | |
| DOID:0060318 | acute promyelocytic leukemia | |
| DOID:0060467 | humeroradial synostosis | |
| DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
| DOID:0060578 | Noonan syndrome 1 | |
| DOID:0060580 | Noonan syndrome 2 | |
| DOID:0060581 | Noonan syndrome 3 | |
| DOID:0060582 | Noonan syndrome 4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000055 | Abnormal female external genitalia morphology |
| HP:0000069 | Abnormality of the ureter |
| HP:0000077 | Abnormality of the kidney |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000107 | Renal cyst |
| HP:0000119 | Abnormality of the genitourinary system |
| 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 |
|---|---|---|---|
| 100413695 | CALJA40259 | ||
| 105595111 | CERAT06438 | ||
| 102145976 | MACFA23284 | ||
| 707213 | MACMU21981 | ||
| 105494393 | MACNE01420 | ||
| 101006455 | PAPAN17536 | ||
| 101138254 | GORGO17797 | ||
| 100969025 | PANPA00536 | ||
| 100613114 | PANTR20189 | ||
| 129056643 | PONAB17017 |
