PDGFRB platelet derived growth factor receptor beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDGFRBprovided by HGNC
Official Full Name: platelet derived growth factor receptor betaprovided by HGNC
Primary source: HGNC:HGNC:8804
See related: Ensembl:ENSG00000113721 MIM:173410
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IMF1; KOGS; IBGC4; JTK12; PDGFR; PENTT; CD140B; PDGFR1; PDGFR-1
Summary: The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]
Expression: Broad expression in gall bladder (RPKM 79.5), placenta (RPKM 61.0) and 21 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 5q32

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109.20191205	current	GRCh38.p13 (GCF_000001405.39)	5	NC_000005.10 (150113839..150155845, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (149493402..149535447, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

findings suggest that the activation of the PDGF pathway contributes to the pathogenesis of laminA-related dilated cardiomyopathy and point to PDGF receptor-beta (PDGFRB) as a potential therapeutic target
Title: Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.
the current study demonstrates that the sPDGFRbeta-containing PRTA-score is an accurate, inexpensive and simple scoring algorithm to diagnose significant liver fibrosis in a heterogeneous patient population
Title: A PDGFRβ-based score predicts significant liver fibrosis in patients with chronic alcohol abuse, NAFLD and viral liver disease.
PDGFR-beta expression level is a valuable prognostic factor in patients with clival chordomas.
Title: Analysis of clinical factors and PDGFR-β in predicting prognosis of patients with clival chordoma.
detecting PDGFRA, PDGFRB, FGFR1 and PCM1-JAK2 rearrangements is a prerequisite for up-to-date WHO classification, and an essential step in the differential diagnosis of neoplasms with eosinophilia.
Title: Molecular genetic characterization of myeloid/lymphoid neoplasms associated with eosinophilia and rearrangement of <i>PDGFRA, PDGFRB, FGFR1</i> or <i>PCM1-JAK2</i>.
Compilation of all new symptoms reported here with published clinical data further identifies at least 18 clinical parameters common to all cases to date, encompassing both known KOGS-associated PDGFRB mutations. We therefore propose a set of 18 core KOGS symptoms, with 16 present in early childhood.
Title: Phenotype expansion and development in Kosaki overgrowth syndrome.
study found that ZMYM2-FLT3 and DIAPH1-PDGFRB fusion genes are novel, cytogenetically cryptic and therapeutically targetable abnormalities in myeloproliferative neoplasms with eosinophilia, and are thus reminiscent of FIP1L1-PDGFRA positive myeloid neoplasms
Title: Cytogenetically cryptic ZMYM2-FLT3 and DIAPH1-PDGFRB gene fusions in myeloid neoplasms with eosinophilia.
Based on expression of platelet-derived growth factor receptor-beta (PDGFR-beta).
Title: Characterization of human PDGFR-β-positive pericytes from IPF and non-IPF lungs.
Recurrent PDGFRB mutations are associated with unicentric Castleman disease.
Title: Recurrent PDGFRB mutations in unicentric Castleman disease.
The hypomethylated gene, NRP1, and its co-expressed gene, PDGFRB, were significantly correlated with tumor malignant phenotypes.
Title: Hypomethylated gene NRP1 is co-expressed with PDGFRB and associated with poor overall survival in gastric cancer patients.
The CD146 regulates PDGF-B/PDGFRbeta signaling in a multifaceted manner, involving CD146-PDGFRbeta binding, CD146 dimerization, PI3K recruitment, and CD146-cytoskeleton binding.
Title: CD146 is essential for PDGFRβ-induced pericyte recruitment.

Submit: New GeneRIF Correction See all GeneRIFs (285)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Basal ganglia calcification, idiopathic, 4 MedGen: C3554321 OMIM: 615007 GeneReviews: Primary Familial Brain Calcification	Compare labs
Idiopathic basal ganglia calcification 1 MedGen: C4551624 OMIM: 213600 GeneReviews: Primary Familial Brain Calcification	Compare labs
Infantile myofibromatosis 1 MedGen: C4551572 OMIM: 228550 GeneReviews: Not available	Compare labs
Kosaki overgrowth syndrome MedGen: C4225270 OMIM: 616592 GeneReviews: Not available	Compare labs
Malignant eosinophil proliferation MedGen: C1851585 OMIM: 131440 GeneReviews: Not available	Compare labs
Premature aging syndrome, Penttinen type MedGen: C1866182 OMIM: 601812 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat and cocaine treatment induces phosphorylation of PDGFR-beta at position Y934 without the requirement of PDGF binding in human pulmonary arterial smooth muscle cells	PubMed
	tat	HIV-1 Tat upregulates the expression of platelet-derived growth factor subunit B homodimer through activation of the PDGFR-B/MEK/NF-kappaB pathway in human brain microvascular pericytes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69916 (e-PCR)
- UniSTS:6912

D5S2602 (e-PCR)
- UniSTS:56095

D5S2862 (e-PCR)
- UniSTS:38439

WI-18889 (e-PCR)
- UniSTS:44587

PDGFRB_1343 (e-PCR)
- UniSTS:277577

RH11092 (e-PCR)
- UniSTS:68426

WI-18300 (e-PCR)
- UniSTS:18664

Homology

Homologs of the PDGFRB gene: The PDGFRB gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 283 organisms have orthologs with human gene PDGFRB
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
phosphatidylinositol 3-kinase binding	IEA Inferred from Electronic Annotation more info
platelet activating factor receptor activity	TAS Traceable Author Statement more info	PubMed
platelet-derived growth factor beta-receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
platelet-derived growth factor beta-receptor activity	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor beta-receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
platelet-derived growth factor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
platelet-derived growth factor binding	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
platelet-derived growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
platelet-derived growth factor-activated receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
vascular endothelial growth factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
MAPK cascade	TAS Traceable Author Statement more info
aging	IEA Inferred from Electronic Annotation more info
aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
cardiac myofibril assembly	ISS Inferred from Sequence or Structural Similarity more info
cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
cell migration involved in coronary angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
cell migration involved in vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
cellular response to platelet-derived growth factor stimulus	IEA Inferred from Electronic Annotation more info
glycosaminoglycan biosynthetic process	IEA Inferred from Electronic Annotation more info
hematopoietic progenitor cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
inner ear development	IEA Inferred from Electronic Annotation more info
lung growth	IEA Inferred from Electronic Annotation more info
male gonad development	IEA Inferred from Electronic Annotation more info
metanephric S-shaped body morphogenesis	IEA Inferred from Electronic Annotation more info
metanephric comma-shaped body morphogenesis	IEA Inferred from Electronic Annotation more info
metanephric glomerular capillary formation	ISS Inferred from Sequence or Structural Similarity more info
metanephric glomerular mesangial cell proliferation involved in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
metanephric mesenchymal cell migration	IEA Inferred from Electronic Annotation more info
metanephric mesenchyme development	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylinositol-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor receptor-beta signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of DNA biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of MAP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of calcium ion import	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
positive regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of hepatic stellate cell activation	IEA Inferred from Electronic Annotation more info
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of mitotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of phosphatidylinositol 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of phosphatidylinositol 3-kinase signaling	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of phospholipase C activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein kinase B signaling	TAS Traceable Author Statement more info
positive regulation of reactive oxygen species metabolic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of smooth muscle cell migration	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of smooth muscle cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of smooth muscle cell migration	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of smooth muscle cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of smooth muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
regulation of actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
response to estradiol	IEA Inferred from Electronic Annotation more info
response to estrogen	IEA Inferred from Electronic Annotation more info
response to fluid shear stress	IEA Inferred from Electronic Annotation more info
response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
response to hyperoxia	IEA Inferred from Electronic Annotation more info
response to retinoic acid	IEA Inferred from Electronic Annotation more info
retina vasculature development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
signal transduction	IDA Inferred from Direct Assay more info	PubMed
smooth muscle cell chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
transmembrane receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
wound healing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info
apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
cell surface	IEA Inferred from Electronic Annotation more info
cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
focal adhesion	HDA more info	PubMed
integral component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
intrinsic component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
lysosomal lumen	IEA Inferred from Electronic Annotation more info
membrane	HDA more info	PubMed
membrane	IDA Inferred from Direct Assay more info	PubMed
nucleus	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	TAS Traceable Author Statement more info
receptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: platelet-derived growth factor receptor beta

Names: Activated tyrosine kinase PDGFRB; CD140 antigen-like family member B; NDEL1-PDGFRB; PDGF-R-beta; PDGFR-beta; beta-type platelet-derived growth factor receptor; platelet-derived growth factor receptor 1; platelet-derived growth factor receptor, beta polypeptide

NP_001341945.1

EC 2.7.10.1

NP_001341946.1

EC 2.7.10.1

NP_002600.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023367.1 RefSeqGene

Range

5001..47021

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001355016.2 → NP_001341945.1 platelet-derived growth factor receptor beta isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC005895, AC011382

Conserved Domains (4) summary

cd05107
Location:498 → 889

PTKc_PDGFR_beta; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor beta

cd05859
Location:250 → 351

Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR)

cd05861
Location:164 → 248

Ig_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)

cl11960
Location:361 → 459

Ig; Immunoglobulin domain
NM_001355017.2 → NP_001341946.1 platelet-derived growth factor receptor beta isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC005895, AC011382

Conserved Domains (4) summary

cd05107
Location:401 → 792

PTKc_PDGFR_beta; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor beta

cd05859
Location:153 → 254

Ig4_PDGFR; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR)

cd05861
Location:67 → 151

Ig_PDGFR-alphabeta; Immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)

cl11960
Location:264 → 362

Ig; Immunoglobulin domain
NM_002609.4 → NP_002600.1 platelet-derived growth factor receptor beta isoform 1 precursor

See identical proteins and their annotated locations for NP_002600.1

Status: REVIEWED

Source sequence(s)

AC005895, AC011382

Consensus CDS

CCDS4303.1

UniProtKB/Swiss-Prot

P09619

UniProtKB/TrEMBL

Q59F04

Related

ENSP00000261799.4, ENST00000261799.9

Conserved Domains (8) summary

cd05107
Location:562 → 953

PTKc_PDGFR_beta; Catalytic domain of the Protein Tyrosine Kinase, Platelet Derived Growth Factor Receptor beta

cd05859
Location:314 → 415

Ig4_PDGFR-alpha; Fourth immunoglobulin (Ig)-like domain of platelet-derived growth factor receptor (PDGFR) alpha

cd05861
Location:228 → 312

Ig1_PDGFR-alphabeta; Frst immunoglobulin (Ig)-like domain of platelet-derived growth factor (PDGF) receptors (R), alpha (CD140a), and beta (CD140b)

smart00409
Location:40 → 110

IG; Immunoglobulin

smart00410
Location:222 → 310

IG_like; Immunoglobulin like

pfam00047
Location:37 → 114

ig; Immunoglobulin domain

pfam07714
Location:600 → 953

Pkinase_Tyr; Protein tyrosine kinase

cl11960
Location:425 → 523

Ig; Immunoglobulin domain

RNA

NR_149150.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks most of the exons found in variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.

Source sequence(s)

AC005895