Gene
hspg2
- ID
- ZDB-GENE-080807-4
- Name
- heparan sulfate proteoglycan 2
- Symbol
- hspg2 Nomenclature History
- Previous Names
-
- perlecan (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including blood vessel endothelial cell migration; embryonic viscerocranium morphogenesis; and endothelial cell proliferation. Predicted to be located in basement membrane and extracellular region. Is expressed in several structures, including axial vasculature; eye; immature eye; trunk; and trunk musculature. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Orthologous to human HSPG2 (heparan sulfate proteoglycan 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Schwartz-Jampel syndrome 1 | Alliance | Schwartz-Jampel syndrome, type 1 | 255800 |
| Silverman-Handmaker type dyssegmental dysplasia | Alliance | Dyssegmental dysplasia, Silverman-Handmaker type | 224410 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR013032 | EGF-like, conserved site |
| Conserved_site | IPR023415 | Low-density lipoprotein (LDL) receptor class A, conserved site |
| Domain | IPR000034 | Laminin IV |
| Domain | IPR000082 | SEA domain |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR002049 | Laminin-type EGF domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013151 | Immunoglobulin |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036055 | LDL receptor-like superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
| Repeat | IPR002172 | Low-density lipoprotein (LDL) receptor class A repeat |
Domain Details Per Protein
| Protein | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like calcium-binding domain | EGF-like, conserved site | EGF-like domain | Growth factor receptor cysteine-rich domain superfamily | Immunoglobulin | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | Laminin G domain | Laminin IV | Laminin-type EGF domain | LDL receptor-like superfamily | Low-density lipoprotein (LDL) receptor class A, conserved site | Low-density lipoprotein (LDL) receptor class A repeat | SEA domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IZA6
|
3462 | |||||||||||||||||||
|
UniProtKB:B0LVF1
|
656 | |||||||||||||||||||
|
UniProtKB:B2RZI0
|
3407 | |||||||||||||||||||
|
UniProtKB:F1R5K7
|
3397 | |||||||||||||||||||
|
UniProtKB:F1RCP6
|
3419 |
Interactions and Pathways
No data available
Plasmids
No data available