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 enable ATP binding activity and transmembrane receptor protein tyrosine kinase activity. Acts upstream of or within several processes, including embryonic neurocranium morphogenesis; hematopoietic stem cell differentiation; and vasculature development. Predicted to be located in plasma membrane. Is expressed in several structures, including digestive system; floor plate neural tube; hypochord; somite; and vasculature. Human ortholog(s) of this gene implicated in basal ganglia calcification; glioblastoma; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. 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
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pdgfrb-201
(1)
|
Ensembl | 3,195 nt | ||
| mRNA |
pdgfrb-202
(1)
|
Ensembl | 7,594 nt |
Interactions and Pathways
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pdgfrb | polyclonal | Rabbit |
|
1 |
Plasmids
No data available