Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PDGFRB Gene

Aliases for PDGFRB Gene

  • Platelet Derived Growth Factor Receptor Beta 2 3
  • Platelet-Derived Growth Factor Receptor, Beta Polypeptide 2 3 5
  • Beta-Type Platelet-Derived Growth Factor Receptor 3 4
  • Platelet-Derived Growth Factor Receptor 1 3 4
  • CD140 Antigen-Like Family Member B 3 4
  • PDGF-R-Beta 3 4
  • EC 2.7.10.1 4 63
  • PDGFR-Beta 3 4
  • PDGFR-1 3 4
  • PDGFR1 3 4
  • PDGFR 3 4
  • Beta Platelet-Derived Growth Factor Receptor 4
  • CD140b Antigen 4
  • EC 2.7.10 63
  • CD140B 3
  • IBGC4 3
  • JTK12 3
  • PENTT 3
  • IMF1 3
  • KOGS 3

External Ids for PDGFRB Gene

Previous HGNC Symbols for PDGFRB Gene

  • PDGFR

Previous GeneCards Identifiers for PDGFRB Gene

  • GC05M149563
  • GC05M150021
  • GC05M149476
  • GC05M149521
  • GC05M149473
  • GC05M144641
  • GC05M149494

Summaries for PDGFRB Gene

Entrez Gene Summary for PDGFRB Gene

  • This gene encodes 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 or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. 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 translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDGFRB Gene

PDGFRB (Platelet Derived Growth Factor Receptor Beta) is a Protein Coding gene. Diseases associated with PDGFRB include basal ganglia calcification, idiopathic, 4 and myofibromatosis, infantile, 1. Among its related pathways are Signaling by GPCR and Alzheimers Disease Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is FGFR1.

UniProtKB/Swiss-Prot for PDGFRB Gene

  • Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.

Tocris Summary for PDGFRB Gene

  • Platelet-derived growth factor receptors (PDGFRs) are catalytic receptors that have intracellular tyrosine kinase activity. They have roles in the regulation of many biological processes including embryonic development, angiogenesis, cell proliferation and differentiation.

Gene Wiki entry for PDGFRB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDGFRB Gene

Genomics for PDGFRB Gene

Regulatory Elements for PDGFRB Gene

Promoters for PDGFRB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PDGFRB on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PDGFRB gene promoter:

Genomic Location for PDGFRB Gene

Chromosome:
5
Start:
150,113,837 bp from pter
End:
150,155,884 bp from pter
Size:
42,048 bases
Orientation:
Minus strand

Genomic View for PDGFRB Gene

Genes around PDGFRB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDGFRB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDGFRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDGFRB Gene

Proteins for PDGFRB Gene

  • Protein details for PDGFRB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09619-PGFRB_HUMAN
    Recommended name:
    Platelet-derived growth factor receptor beta
    Protein Accession:
    P09619
    Secondary Accessions:
    • B5A957
    • Q8N5L4

    Protein attributes for PDGFRB Gene

    Size:
    1106 amino acids
    Molecular mass:
    123968 Da
    Quaternary structure:
    • Interacts with homodimeric PDGFB and PDGFD, and with heterodimers formed by PDGFA and PDGFB. May also interact with homodimeric PDGFC. Monomer in the absence of bound ligand. Interaction with homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD, leads to receptor dimerization, where both PDGFRA homodimers and heterodimers with PDGFRB are observed. Interacts with SH2B2/APS. Interacts directly (tyrosine phosphorylated) with SHB. Interacts (tyrosine phosphorylated) with PIK3R1 and RASA1. Interacts (tyrosine phosphorylated) with CBL. Interacts (tyrosine phosphorylated) with SRC and SRC family kinases. Interacts (tyrosine phosphorylated) with PIK3C2B, maybe indirectly. Interacts (tyrosine phosphorylated) with SHC1, GRB7, GRB10 and NCK1. Interaction with GRB2 is mediated by SHC1. Interacts (via C-terminus) with SLC9A3R1.

    Three dimensional structures from OCA and Proteopedia for PDGFRB Gene

    Alternative splice isoforms for PDGFRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDGFRB Gene

Proteomics data for PDGFRB Gene at MOPED

Post-translational modifications for PDGFRB Gene

  • Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-579, and to a lesser degree, at Tyr-581, is important for interaction with SRC family kinases. Phosphorylation at Tyr-740 and Tyr-751 is important for interaction with PIK3R1. Phosphorylation at Tyr-751 is important for interaction with NCK1. Phosphorylation at Tyr-771 and Tyr-857 is important for interaction with RASA1/GAP. Phosphorylation at Tyr-857 is important for efficient phosphorylation of PLCG1 and PTPN11, resulting in increased phosphorylation of AKT1, MAPK1/ERK2 and/or MAPK3/ERK1, PDCD6IP/ALIX and STAM, and in increased cell proliferation. Phosphorylation at Tyr-1009 is important for interaction with PTPN11. Phosphorylation at Tyr-1009 and Tyr-1021 is important for interaction with PLCG1. Phosphorylation at Tyr-1021 is important for interaction with CBL; PLCG1 and CBL compete for the same binding site. Dephosphorylated by PTPRJ at Tyr-751, Tyr-857, Tyr-1009 and Tyr-1021. Dephosphorylated by PTPN2 at Tyr-579 and Tyr-1021.
  • N-glycosylated.
  • Ubiquitinated. After autophosphorylation, the receptor is polyubiquitinated, leading to its degradation.
  • Ubiquitination at Lys 707
  • Glycosylation at Asn 45, Asn 89, Asn 103, Asn 215, Asn 230, Asn 292, Asn 307, Asn 354, Asn 371, Asn 468, and Asn 479
  • Modification sites at PhosphoSitePlus

Other Protein References for PDGFRB Gene

Domains & Families for PDGFRB Gene

Suggested Antigen Peptide Sequences for PDGFRB Gene

Graphical View of Domain Structure for InterPro Entry

P09619

UniProtKB/Swiss-Prot:

PGFRB_HUMAN :
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
genes like me logo Genes that share domains with PDGFRB: view

Function for PDGFRB Gene

Molecular function for PDGFRB Gene

GENATLAS Biochemistry:
platelet-derived growth factor receptor,beta,subunit,homodimerizing and heterodimerizing with PDGFRA,immunoglobulin superfamily type III RTK subfamily,constitutively activated through amino-acid(s) substitution in a WW-like domain (phosphoserine- or phosphothreonine binding)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive conformation in the absence of bound ligand. Binding of PDGFB and/or PDGFD leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib.
UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor.

Enzyme Numbers (IUBMB) for PDGFRB Gene

Gene Ontology (GO) - Molecular Function for PDGFRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,IDA 1653029
GO:0038085 vascular endothelial growth factor binding IPI 17470632
GO:0048407 platelet-derived growth factor binding IPI 2536956
genes like me logo Genes that share ontologies with PDGFRB: view
genes like me logo Genes that share phenotypes with PDGFRB: view

Human Phenotype Ontology for PDGFRB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDGFRB Gene

MGI Knock Outs for PDGFRB:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PDGFRB Gene

Localization for PDGFRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDGFRB Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasmic vesicle. Lysosome lumen. Note=After ligand binding, the autophosphorylated receptor is ubiquitinated and internalized, leading to its degradation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDGFRB Gene COMPARTMENTS Subcellular localization image for PDGFRB gene
Compartment Confidence
extracellular 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 3
cytoskeleton 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PDGFRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016324 apical plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with PDGFRB: view

Pathways & Interactions for PDGFRB Gene

SuperPathways for PDGFRB Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K events in ERBB4 signaling
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with PDGFRB: view

SIGNOR curated interactions for PDGFRB Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PDGFRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0006024 glycosaminoglycan biosynthetic process IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
genes like me logo Genes that share ontologies with PDGFRB: view

Drugs & Compounds for PDGFRB Gene

(101) Drugs for PDGFRB Gene - From: DGIdb, Novoseek, HMDB, DrugBank, ApexBio, FDA Approved Drugs, PharmGKB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma inhibitor, Target, antagonist VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 486
imatinib Approved Pharma inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Dasatinib Approved, Investigational Pharma Inhibition, inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 268
Sorafenib Approved, Investigational Pharma inhibitors, inhibitor, Target, antagonist Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 671
Becaplermin Approved, Investigational Pharma inhibitor, Target 0

(39) Additional Compounds for PDGFRB Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
N-desmethylimatinib
  • CGP74588
AG 18
118409-57-7
DMPQ dihydrochloride
1123491-15-5
SU 16f
251356-45-3
genes like me logo Genes that share compounds with PDGFRB: view

Drug Products

Transcripts for PDGFRB Gene

Unigene Clusters for PDGFRB Gene

Platelet-derived growth factor receptor, beta polypeptide:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDGFRB Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^
SP1: - - - - - -
SP2: - - - - - - -
SP3:
SP4: -
SP5: - - - - -
SP6:
SP7:
SP8: -
SP9:

ExUns: 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PDGFRB Gene

GeneLoc Exon Structure for
PDGFRB
ECgene alternative splicing isoforms for
PDGFRB

Expression for PDGFRB Gene

mRNA expression in normal human tissues for PDGFRB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDGFRB Gene

This gene is overexpressed in Lymph node (10.9) and Uterus (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDGFRB Gene



SOURCE GeneReport for Unigene cluster for PDGFRB Gene Hs.509067

genes like me logo Genes that share expression patterns with PDGFRB: view

Protein tissue co-expression partners for PDGFRB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PDGFRB Gene

Orthologs for PDGFRB Gene

This gene was present in the common ancestor of animals.

Orthologs for PDGFRB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDGFRB 35
  • 97.77 (n)
  • 97.7 (a)
cow
(Bos Taurus)
Mammalia PDGFRB 36
  • 91 (a)
OneToOne
PDGFRB 35
  • 88.46 (n)
  • 90.93 (a)
dog
(Canis familiaris)
Mammalia PDGFRB 35
  • 87.91 (n)
  • 90.03 (a)
PDGFRB 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdgfrb 16
Pdgfrb 35
  • 83.58 (n)
  • 85.97 (a)
Pdgfrb 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDGFRB 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDGFRB 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdgfrb 35
  • 83.77 (n)
  • 86.42 (a)
chicken
(Gallus gallus)
Aves PDGFRB 35
  • 70.55 (n)
  • 68.47 (a)
PDGFRB 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDGFRB 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdgfrb 35
  • 60.46 (n)
  • 59.35 (a)
zebrafish
(Danio rerio)
Actinopterygii pdgfrb 36
  • 50 (a)
OneToOne
pdgfrb 35
  • 58.4 (n)
  • 52.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3277 37
  • 33 (a)
Pvr 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea kin-16 37
  • 32 (a)
ver-2 37
  • 42 (a)
Species with no ortholog for PDGFRB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDGFRB Gene

ENSEMBL:
Gene Tree for PDGFRB (if available)
TreeFam:
Gene Tree for PDGFRB (if available)

Paralogs for PDGFRB Gene

(4) SIMAP similar genes for PDGFRB Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PDGFRB: view

Variants for PDGFRB Gene

Sequence variations from dbSNP and Humsavar for PDGFRB Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs17110944 - 150,135,834(+) AGAGA(A/T)CTGTG reference, missense, utr-variant-5-prime
rs17853027 - 150,134,842(+) TACCA(A/G)AAAAG reference, missense
rs34586048 - 150,133,676(+) TAACT(C/T)GGCAC reference, missense
rs41287110 - 150,129,883(+) CTCCT(C/T)CTCCC reference, missense
VAR_042029 A gastric adenocarcinoma sample

Structural Variations from Database of Genomic Variants (DGV) for PDGFRB Gene

Variant ID Type Subtype PubMed ID
nsv830518 CNV Loss 17160897
dgv6359n71 CNV Loss 21882294
nsv883027 CNV Loss 21882294
nsv883028 CNV Loss 21882294
nsv5062 CNV Loss 18451855
nsv525243 CNV Loss 19592680
nsv883029 CNV Loss 21882294
nsv329566 CNV Loss 16902084
nsv883030 CNV Loss 21882294

Variation tolerance for PDGFRB Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDGFRB Gene

HapMap Linkage Disequilibrium report
PDGFRB
Human Gene Mutation Database (HGMD)
PDGFRB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDGFRB Gene

Disorders for PDGFRB Gene

MalaCards: The human disease database

(54) MalaCards diseases for PDGFRB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
basal ganglia calcification, idiopathic, 4
  • ibgc4
myofibromatosis, infantile, 1
  • congenital generalized fibromatosis
kosaki overgrowth syndrome
  • skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration
myeloproliferative disorder with eosinophilia
  • mpe
premature aging syndrome, penttinen type
  • penttinen syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PGFRB_HUMAN
  • Note=A chromosomal aberration involving PDGFRB is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with EVT6/TEL. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).
  • Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder characterized by malignant eosinophils proliferation. Note=The gene represented in this entry may be involved in disease pathogenesis. Chromosomal aberrations involving PDGFRB have been found in many instances of chronic myeloproliferative disorder with eosinophilia. Translocation t(5;12) with ETV6 on chromosome 12 creating an PDGFRB-ETV6 fusion protein (PubMed:12181402). Translocation t(5;15)(q33;q22) with TP53BP1 creating a PDGFRB-TP53BP1 fusion protein (PubMed:15492236). Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein (PubMed:12907457). Translocation t(5;6)(q33-34;q23) with CEP85L that fuses the 5-end of CEP85L (isoform 4) to the 3-end of PDGFRB (PubMed:21938754). {ECO:0000269 PubMed:12181402, ECO:0000269 PubMed:12907457, ECO:0000269 PubMed:15492236, ECO:0000269 PubMed:21938754}.
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with AML. Translocation t(5;14)(q33;q32) with TRIP11 (PubMed:9373237). {ECO:0000269 PubMed:9373237}.
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving PDGFRB has been found in a patient with JMML. Translocation t(5;17)(q33;p11.2) with SPECC1 (PubMed:15087372). {ECO:0000269 PubMed:15087372}.
  • Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. {ECO:0000269 PubMed:23255827, ECO:0000269 PubMed:24065723, ECO:0000269 PubMed:26599395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myofibromatosis, infantile 1 (IMF1) [MIM:228550]: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. {ECO:0000269 PubMed:23731537, ECO:0000269 PubMed:23731542}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PDGFRB

Genetic Association Database (GAD)
PDGFRB
Human Genome Epidemiology (HuGE) Navigator
PDGFRB
Tumor Gene Database (TGDB):
PDGFRB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDGFRB
genes like me logo Genes that share disorders with PDGFRB: view

No data available for Genatlas for PDGFRB Gene

Publications for PDGFRB Gene

  1. Binding of Cbl to a phospholipase Cgamma1-docking site on platelet- derived growth factor receptor beta provides a dual mechanism of negative regulation. (PMID: 17620338) Reddi A.L. … Band H. (J. Biol. Chem. 2007) 3 4 23 67
  2. Sorafenib inhibits imatinib-resistant KIT and platelet-derived growth factor receptor beta gatekeeper mutants. (PMID: 17545544) Guida T. … Carlomagno F. (Clin. Cancer Res. 2007) 23 25 26
  3. The role of targeted therapy in metastatic renal cell carcinoma. (PMID: 17619763) Unnithan J. … Rini B.I. (ScientificWorldJournal 2007) 23 25 26
  4. New assignments for multitasking signal transduction inhibitors. (PMID: 16497876) Zhang Z. … Meier K.E. (Mol. Pharmacol. 2006) 23 25 26
  5. The tyrosine kinase inhibitor imatinib fails to inhibit pancreatic cancer progression. (PMID: 15893416) Chen J. … Ebert M.P. (Cancer Lett. 2006) 23 25 26

Products for PDGFRB Gene

Sources for PDGFRB Gene

Back to Top

Content