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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable platelet-derived growth factor beta-receptor activity and platelet-derived growth factor binding activity. Acts upstream of or within several processes, including embryonic neurocranium morphogenesis; hematopoietic stem cell differentiation; and vasculature development. Predicted to be located in cytoplasmic vesicle; lysosomal lumen; and 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; and renal cell carcinoma. Orthologous to human PDGFRB (platelet derived growth factor receptor beta).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

28 figures from 22 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 13 figures from 6 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pdgfrb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
basal ganglia calcification	Alliance	Basal ganglia calcification, idiopathic, 4	615007
infantile myofibromatosis 1	Alliance	Myofibromatosis, infantile, 1	228550
		Kosaki overgrowth syndrome	616592
		Premature aging syndrome, Penttinen type	601812
		?Ocular pterygium-digital keloid dysplasia syndrome	621091

Associated With pdgfrb Via Experimental Models

No data available

Gene Ontology

Protein Domains

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