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Aliases for PDGFRB Gene

Aliases for PDGFRB Gene

  • Platelet-Derived Growth Factor Receptor, Beta Polypeptide 2 3
  • PDGFR 3 4 6
  • 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
  • IBGC4 3 6
  • IMF1 3 6
  • Platelet-Derived Growth Factor Receptor Beta 3
  • Beta Platelet-Derived Growth Factor Receptor 4
  • CD140b Antigen 4
  • EC 2.7.10 63
  • CD140B 3
  • JTK12 3

External Ids for PDGFRB Gene

Previous Symbols for PDGFRB Gene

  • PDGFR

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 Polypeptide) is a Protein Coding gene. Diseases associated with PDGFRB include basal ganglia calcification, idiopathic, 4 and myofibromatosis, infantile, 1. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include receptor binding and phosphatidylinositol 3-kinase binding. An important paralog of this gene is FGFR3.

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, and contribute to the pathophysiology of some diseases, including cancer. There are two isoforms of the PDGFR receptor; PDGFRalpha and PDGFRbeta, which can form homo- or heterodimers. The endogenous PDGFR ligands are PDGF-A, -B, -C and -D, which induce receptor dimerization and transphosphorylation at specific tyrosine residues upon binding. This activates the intracellular kinase activity, initiating intracellular signaling through the MAPK, PI 3-K and PKCgamma pathways.

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

Genomic Location for PDGFRB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PDGFRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDGFRB Gene

Regulatory Elements for PDGFRB Gene

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

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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys707
  • Glycosylation at Asn45, Asn89, Asn103, Asn215, Asn230, Asn292, Asn307, Asn354, Asn371, Asn468, and Asn479

Other Protein References for PDGFRB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PDGFRB Gene

Gene Families for PDGFRB Gene

HGNC:
  • CD :CD molecules
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for PDGFRB Gene

Graphical View of Domain Structure for InterPro Entry

P09619

UniProtKB/Swiss-Prot:

PGFRB_HUMAN
Domain:
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.:
    • P09619
  • Contains 1 protein kinase domain.:
    • P09619
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.:
    • P09619
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:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity IDA 1653029
GO:0004714 transmembrane receptor protein tyrosine kinase activity --
GO:0004871 signal transducer activity --
GO:0004992 platelet activating factor receptor activity TAS 2536956
genes like me logo Genes that share ontologies with PDGFRB: view
genes like me logo Genes that share phenotypes with PDGFRB: view

Animal Models for PDGFRB Gene

MGI Knock Outs for PDGFRB:

miRNA for PDGFRB Gene

miRTarBase miRNAs that target PDGFRB

No data available for Transcription Factor Targeting 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
lysosome 5
plasma membrane 5
vacuole 5
nucleus 4
cytoskeleton 2
extracellular 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PDGFRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005764 lysosome --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with PDGFRB: view

Pathways for PDGFRB Gene

SuperPathways for PDGFRB Gene

Superpath Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
2 PI-3K cascade
3 Signaling by FGFR
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with PDGFRB: view

Gene Ontology (GO) - Biological Process for PDGFRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001822 kidney development --
GO:0001894 tissue homeostasis IEA --
GO:0006024 glycosaminoglycan biosynthetic process IEA --
GO:0006468 protein phosphorylation --
genes like me logo Genes that share ontologies with PDGFRB: view

Compounds for PDGFRB Gene

(14) ApexBio Compounds for PDGFRB Gene

Compound Action Cas Number
Amuvatinib (MP-470, HPK 56) Multi-kinase inhibitor, inhibits PDGFR, c-Kit, and Flt3 [850879-09-3]
Crenolanib (CP-868596) Potent and selective PDGFR-beta inhibitor [670220-88-9]
Flumatinib mesylate multi-kinase inhibitor for c-Abl, PDGFRbeta and c-Kit [895519-91-2]
Imatinib Mesylate (STI571) Multi-target kinase inhibitor of abl, c-kit, and PDGFR [220127-57-1]
Masitinib (AB1010) tyrosine kinase, c-Kit, PDGFR, FGFR3, the FAK pathway inhibitor [790299-79-5]
MK-2461 potent inhibitor of Met, Ron, Flt1, Flt 3, PDGFRbeta, and Mer with IC50 of 2.5 nM, 7 nM, 10 nM, 22 nM, 22 nM and 24 nM, respectively. [917879-39-1]
Nintedanib (BIBF 1120) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [928326-83-4]
Pazopanib (GW-786034) Multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and FGFR [635702-64-6]
Ponatinib (AP24534) pan-BCR-ABL inhibitor [943319-70-8]
Regorafenib Multi-kinase inhibitor, inhibits VEGFR, PDGFR, FGFR, mutant kit, RET, and Raf-1 [755037-03-7]
SKLB610 Potent VEGFR inhibitor [1125780-41-7]
Sorafenib Multi-target kinase inhibitor of Raf kinases and tyrosine kinases [284461-73-0]
Sorafenib Tosylate Multi-target kinase inhibitor of Raf kinases and tyrosine kinases [475207-59-1]
Sunitinib malate ATP-competitive multi-target kinase inhibitor, inhibits VEGFR, PDGFR, and KIT [341031-54-7]

(4) Tocris Compounds for PDGFRB Gene

Compound Action Cas Number
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta [137206-97-4]
SU 16f Potent and selective PDGFRbeta inhibitor [251356-45-3]
SU 6668 PDGFR, VEGFR and FGFR inhibitor [252916-29-3]
Sunitinib malate Potent VEGFR, PDGFRbeta and KIT inhibitor [341031-54-7]

(2) HMDB Compounds for PDGFRB Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(7) Drugbank Compounds for PDGFRB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Becaplermin
  • c-sis
165101-51-9 target
Dasatinib
302962-49-8 target antagonist
Imatinib
  • CGP-57148B
152459-95-5 target antagonist
Pazopanib
  • GW-786034
444731-52-6 target inhibitor
Regorafenib
755037-03-7 target inhibitor

(76) Novoseek inferred chemical compound relationships for PDGFRB Gene

Compound -log(P) Hits PubMed IDs
imatinib 93.2 176
tyrosine 87.5 153
ag-1296 87.4 16
sunitinib 81.7 31
su6668 79.8 12

(1) PharmGKB related drug/compound annotations for PDGFRB Gene

Drug/compound Annotation
imatinib
genes like me logo Genes that share compounds with PDGFRB: view

Transcripts for PDGFRB Gene

Unigene Clusters for PDGFRB Gene

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

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

Integrated Proteomics: protein expression 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 expressions with PDGFRB: view

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 35
  • 88.46 (n)
  • 90.93 (a)
PDGFRB 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDGFRB 35
  • 87.91 (n)
  • 90.03 (a)
PDGFRB 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdgfrb 35
  • 83.58 (n)
  • 85.97 (a)
Pdgfrb 16
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 35
  • 58.4 (n)
  • 52.82 (a)
pdgfrb 36
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3277 37
  • 33 (a)
Pvr 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea ver-2 37
  • 42 (a)
kin-16 37
  • 32 (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

Paralogs for PDGFRB Gene

Selected 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 MAF
rs165979 -- 150,116,207(+) AGCTC(A/G)TTTCT intron-variant
rs193549 -- 150,120,673(+) CTCCC(C/T)GCCGC intron-variant
rs246387 -- 150,115,487(+) CCCAT(C/T)TTACA utr-variant-3-prime
rs246388 -- 150,115,832(+) AGCTC(C/T)GGCTC reference, synonymous-codon
rs246389 -- 150,116,440(+) cccca(A/T)ctcta intron-variant

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

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

(3) OMIM Diseases for PDGFRB Gene (173410)

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}. 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.

(94) Novoseek inferred disease relationships for PDGFRB Gene

Disease -log(P) Hits PubMed IDs
gastrointestinal stromal tumor 78.3 9
myeloproliferative neoplasm 78 11
hypereosinophilic syndrome 74.7 1
leukemia myelomonocytic chronic 73.3 12
leukemia eosinophilic 69.7 2

Relevant External Links for PDGFRB

Genetic Association Database (GAD)
PDGFRB
Human Genome Epidemiology (HuGE) Navigator
PDGFRB
Tumor Gene Database (TGDB):
PDGFRB
genes like me logo Genes that share disorders with PDGFRB: view

Publications for PDGFRB Gene

  1. Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution. (PMID: 9373237) Abe A. … Saito H. (Blood 1997) 3 4 23
  2. Site-selective dephosphorylation of the platelet-derived growth factor beta-receptor by the receptor-like protein-tyrosine phosphatase DEP-1. (PMID: 10821867) Kovalenko M. … Ostman A. (J. Biol. Chem. 2000) 3 4 23
  3. Development of hygromas or severe edema during treatment with the tyrosine kinase inhibitor STI571 is not associated with platelet-derived growth factor receptor (PDGFR) gene polymorphisms. (PMID: 15380338) BrA1ck P. … Ottmann O.G. (Leuk. Res. 2004) 3 23 48
  4. 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
  5. Novel splice variants derived from the receptor tyrosine kinase superfamily are potential therapeutics for rheumatoid arthritis. (PMID: 18593464) Jin P. … Paleolog E.M. (Arthritis Res. Ther. 2008) 3 4 23

Products for PDGFRB Gene

Sources for PDGFRB Gene

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