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 platelet-derived growth factor beta-receptor activity and platelet-derived growth factor binding activity. Involved in several processes, including angiogenesis involved in coronary vascular morphogenesis; platelet-derived growth factor receptor-beta signaling pathway; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of or within several processes, including embryonic neurocranium morphogenesis; hematopoietic stem cell differentiation; and vasculature development. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active 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
- 13 figures from 6 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 |
Kosaki overgrowth syndrome | 616592 | ||
Premature aging syndrome, Penttinen type | 601812 | ||
?Ocular pterygium-digital keloid dysplasia syndrome | 621091 |
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