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 have calcium ion binding activity. Involved in several processes, including blood vessel endothelial cell migration; endothelial cell proliferation; and skeletal muscle tissue development. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Is expressed in several structures, including axial vasculature; immature eye; intestine; trunk; and trunk musculature. 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 | 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 domain subtype |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR013106 | Immunoglobulin V-set domain |
Family | IPR051170 | Neural and epithelial cell adhesion domain-containing protein |
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 domain | Growth factor receptor cysteine-rich domain superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Immunoglobulin V-set domain | 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 | Neural and epithelial cell adhesion domain-containing protein | SEA domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3ANS4
|
3554 | |||||||||||||||||||
UniProtKB:A0A8M9PWW1
|
3691 | |||||||||||||||||||
UniProtKB:A0A8M9PTK3
|
3685 | |||||||||||||||||||
UniProtKB:A0A8M9P5I6
|
3682 | |||||||||||||||||||
UniProtKB:A0A8M9PFI3
|
3681 | |||||||||||||||||||
UniProtKB:A0A8M9PFI8
|
3502 | |||||||||||||||||||
UniProtKB:A0A8M9P5J1
|
3503 | |||||||||||||||||||
UniProtKB:A0A8M3ANR9
|
3700 | |||||||||||||||||||
UniProtKB:A0A8M9PL79
|
3675 | |||||||||||||||||||
UniProtKB:A0A8M9PWW5
|
3658 | |||||||||||||||||||
UniProtKB:A0A8M3AYK3
|
3689 | |||||||||||||||||||
UniProtKB:A0A8M9PTJ8
|
3700 | |||||||||||||||||||
UniProtKB:A0A8M9P5I3
|
3695 | |||||||||||||||||||
UniProtKB:A0A8M3B691
|
3582 | |||||||||||||||||||
UniProtKB:A0A8M9PWV8
|
3701 | |||||||||||||||||||
UniProtKB:A0A8M3AN20
|
3604 | |||||||||||||||||||
UniProtKB:A0A8M3AVI2
|
3688 | |||||||||||||||||||
UniProtKB:A0A8M9PFH8
|
3692 |
Interactions and Pathways
No data available
Plasmids
No data available