Gene
pdgfrb
- ID
- ZDB-GENE-030805-2
- Name
- platelet-derived growth factor receptor, beta polypeptide
- Symbol
- pdgfrb Nomenclature History
- Previous Names
-
- pdgfrb2
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and transmembrane receptor protein tyrosine kinase activity. Involved in animal organ development and vasculature development. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in basal ganglia calcification; glioblastoma multiforme; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. Is expressed in several structures, including blood vessel; floor plate neural tube; gut; hypochord; and somite. Orthologous to human PDGFRB (platelet derived growth factor receptor beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 27 figures from 21 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| basal ganglia calcification | Alliance | Basal ganglia calcification, idiopathic, 4 | 615007 |
| infantile myofibromatosis | Alliance | Myofibromatosis, infantile, 1 | 228550 |
| myeloproliferative disorder with eosinophilia | Alliance | Myeloproliferative disorder with eosinophilia | 131440 |
| Kosaki overgrowth syndrome | 616592 | ||
| Premature aging syndrome, Penttinen type | 601812 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Conserved_site | IPR001824 | Tyrosine-protein kinase, receptor class III, conserved site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR050122 | Receptor Tyrosine Kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, receptor class III, conserved site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0G2L2B8
|
877 | ||||||||||||||
|
UniProtKB:D9MNA7
|
1064 | ||||||||||||||
|
UniProtKB:A0A8M9QKL5
|
1072 |
- Genome Browsers
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pdgfrb | polyclonal | Rabbit |
|
1 |
Plasmids
No data available