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PDGFRB

pdgfrb, pdgfrb fish probe
1GQ5, 1H9O, 1SHA, 2L6W, 2PLD, 2PLE, 3MJG

Identifiers Aliases PDGFRB, CD140B, IBGC4, IMF1, JTK12, PDGFR, PDGFR-1, PDGFR1, KOGS, PENTT, platelet derived growth factor receptor beta External IDs MGI: 97531 HomoloGene: 1960 GeneCards: PDGFRB RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez
Ensembl
UniProt
RefSeq mRNA

NM_002609

NM_001146268
NM_008809

RefSeq protein

NP_002600

NP_001139740
NP_032835

Location UCSC Chr 5: 15011 – 15016 Mb Chr 18: 6105 – 6109 Mb PubMed search 1 2 Wikidata
Gene locus notation gene locus notation Gene locus notation gene locus notation gene locus notation gene locus notation
TPM3 1q21 t1;5q21;q32 PDE4DIP 1q22 t1;5q22;q32 SPTBN1 2p16 t2;5p16;q32 GOLGA4 3p21-25 t3;5p21-25;q31-35 WRD4820 3p21-22 t1;3;5p36;p21;q32 PRKG221 4q21 t4;5p21;q32
CEP85L22 6q22 t5;6q32;q22 HIP1 7q11 t5;7q32;q11 KANK1 9q24 t5;9q32;q24 BCR 9q34 t5;9q32;q34 CCDC6 10q21 t5;10q32;q21 H4D10S17023 10q212 t5;10q32;q212
GPIAP124 11p13 multiple ETV6 12p13 t5;12q32;p13 ERC1 12p133 t5;12q32;p133 GIT2 12q24 t5;12q31-33;q24 NIN25 14q24 t5;14q32;q24 TRIP11 14q32 t5;14q32;q32
CCDC88C26 14q32 t5;14q33;q32 TP53BP1 15q22 t5;15q33;22 NDE1 16p13 t5;16q33;p13 SPECC1 17p11 t5;17q32;p112 NDEL1 17p13 t5;17q32;p13 MYO18A 17q112 t5;17q32;q112
BIN227 12q13 t5;12q32;q13 COL1A1 17q22 t5;17q32;q22 DTD128 20p11 t5;20q32;p11 CPSF6 12q15 t5;12q32;q15 RABEP1 17p13 t5;17q32;p13 MPRIP 17p11 t5;17q32;p11
SPTBN1 2p16 t5;2q32;p16 WDR4820 3p22 t5;3q32;p22 GOLGB1 3q12 t3;5q12;q32 DIAPH1 5q31 t5;5q32;q31 TNIP1 5q33 t5;5q32;q33 SART3 12q23 t5;12q32;q23

Similar to PDGFRB-ETV6 translocations, these translocations are generally in-frame and encode for fusion proteins with their PDGFRB-derived tyrosine kinase being continuously active and responsible for causing the potentially malignant growth of its myeloid and/or lymphoid harboring cells Patients are usually middle-aged men They commonly present with anemia, eosinophilia, monocytosis, and splenomegaly and have their disease classified as chronic myelomonocytic leukemia, atypical chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myelogenous leukemia, acute lymphoblastic leukemia, or T lymphoblastic lymphoma Diganosis relies on cytogenetic analyses to detect breakpoints in the long arm of chromosome 5 by Fluorescence in situ hybridization These patients usually respond well to imatinib therapy41829

Primary familial brain calcificationedit

Primary familial brain calcification see Fahr's syndrome is a rare disease involving bilateral calcifications in the brain, predominantly in basal ganglia but also cerebellum, thalamus, and brainstem in patients presenting with diverse neurologic eg movement disorders, parkinsonism, seizures, headache features and psychiatric eg cognitive impairment, mood disorders, psychotic symptoms, and obsessive-compulsive disturbances In a minority of cases, the disease is associated with apparent autosomal dominant loss of function mutations in PDGFRB or the gene which encodes a ligand that simulates PDGFRB, Platelet-derived growth factor, PDGFB PDGFRB is extensively expressed in the neurons, chorioid plexus, vascular smooth muscle cells, and pericytes of the human brain, particularly the basal ganglia and the dentate nucleus It is proposed that signal transduction through PDGFRB maintains blood–brain barrier integrity and that loss of the PDGFRB receptor or is ligand, PDGFB, disrupts the blood–brain barrier, subsequently promoting perivascular calcium deposition and thereby causing the dysfunction and death of neurons3031

Interactionsedit

PDGFRB has been shown to interact with:

  • CRK,32
  • Caveolin 1,33
  • Grb2,343536
  • NCK1,3437
  • NCK2,343839
  • PDGFR-α,4041
  • PTPN11,4243
  • RAS p21 protein activator 1,4445
  • SHC146 and
  • Sodium-hydrogen antiporter 3 regulator 147

See alsoedit

  • Cluster of differentiation
  • Platelet-derived growth factor receptor

Referencesedit

  1. ^ "Human PubMed Reference:" 
  2. ^ "Mouse PubMed Reference:" 
  3. ^ a b https://wwwncbinlmnihgov/gene/5159
  4. ^ a b c d Reiter A, Gotlib J 2017 "Myeloid neoplasms with eosinophilia" Blood 129 6: 704–714 PMID 28028030 doi:101182/blood-2016-10-695973 
  5. ^ Lei H, Kazlauskas A 2014 "A reactive oxygen species-mediated, self-perpetuating loop persistently activates platelet-derived growth factor receptor α" Molecular and Cellular Biology 34 1: 110–22 PMC 3911282  PMID 24190966 doi:101128/MCB00839-13 
  6. ^ Lei H, Qian CX, Lei J, Haddock LJ, Mukai S, Kazlauskas A 2015 "RasGAP Promotes Autophagy and Thereby Suppresses Platelet-Derived Growth Factor Receptor-Mediated Signaling Events, Cellular Responses, and Pathology" Molecular and Cellular Biology 35 10: 1673–85 PMC 4405646  PMID 25733681 doi:101128/MCB01248-14 
  7. ^ Soriano P 1994 "Abnormal kidney development and hematological disorders in PDGF beta-receptor mutant mice" Genes & Development 8 16: 1888–96 PMID 7958864 
  8. ^ Lindahl P, Johansson BR, Levéen P, Betsholtz C 1997 "Pericyte loss and microaneurysm formation in PDGF-B-deficient mice" Science 277 5323: 242–5 PMID 9211853 
  9. ^ Lindahl P, Hellström M, Kalén M, Karlsson L, Pekny M, Pekna M, Soriano P, Betsholtz C 1998 "Paracrine PDGF-B/PDGF-Rbeta signaling controls mesangial cell development in kidney glomeruli" Development Cambridge, England 125 17: 3313–22 PMID 9693135 
  10. ^ Levéen P, Pekny M, Gebre-Medhin S, Swolin B, Larsson E, Betsholtz C 1994 "Mice deficient for PDGF B show renal, cardiovascular, and hematological abnormalities" Genes & Development 8 16: 1875–87 PMID 7958863 
  11. ^ Darland DC, D'Amore PA 1999 "Blood vessel maturation: vascular development comes of age" The Journal of Clinical Investigation 103 2: 157–8 PMC 407889  PMID 9916126 doi:101172/JCI6127 
  12. ^ Olson LE, Soriano P 2011 "PDGFRβ signaling regulates mural cell plasticity and inhibits fat development" Developmental Cell 20 6: 815–26 PMC 3121186  PMID 21664579 doi:101016/jdevcel201104019 
  13. ^ Andrae J, Gallini R, Betsholtz C 2008 "Role of platelet-derived growth factors in physiology and medicine" Genes & Development 22 10: 1276–312 PMC 2732412  PMID 18483217 doi:101101/gad1653708 
  14. ^ Heldin CH 2013 "Targeting the PDGF signaling pathway in tumor treatment" Cell Communication and Signaling : CCS 11: 97 PMC 3878225  PMID 24359404 doi:101186/1478-811X-11-97 
  15. ^ Heldin CH 2014 "Targeting the PDGF signaling pathway in the treatment of non-malignant diseases" Journal of Neuroimmune Pharmacology : the Official Journal of the Society on NeuroImmune Pharmacology 9 2: 69–79 PMID 23793451 doi:101007/s11481-013-9484-2 
  16. ^ Nimer SD 2006 "Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q" Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology 24 16: 2576–82 PMID 16735711 doi:101200/JCO2005036715 
  17. ^ https://wwwncbinlmnihgov/gene/2120
  18. ^ a b c d e Vega F, Medeiros LJ, Bueso-Ramos CE, Arboleda P, Miranda RN 2015 "Hematolymphoid neoplasms associated with rearrangements of PDGFRA, PDGFRB, and FGFR1" American Journal of Clinical Pathology 144 3: 377–92 PMID 26276769 doi:101309/AJCPMORR5Z2IKCEM 
  19. ^ Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW 2016 "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia" Blood 127 20: 2391–405 PMID 27069254 doi:101182/blood-2016-03-643544 
  20. ^ a b https://wwwncbinlmnihgov/gene/57599
  21. ^ https://wwwncbinlmnihgov/gene/5593
  22. ^ https://wwwncbinlmnihgov/gene/387119
  23. ^ https://wwwncbinlmnihgov/gene/term=H4D10S170
  24. ^ https://wwwncbinlmnihgov/gene/4076
  25. ^ https://wwwncbinlmnihgov/gene/51199
  26. ^ https://wwwncbinlmnihgov/gene/440193
  27. ^ https://wwwncbinlmnihgov/gene/51411
  28. ^ https://wwwncbinlmnihgov/gene/92675
  29. ^ Gotlib J 2015 "World Health Organization-defined eosinophilic disorders: 2015 update on diagnosis, risk stratification, and management" American Journal of Hematology 90 11: 1077–89 PMID 26486351 doi:101002/ajh24196 
  30. ^ Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M 2015 "Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization" JAMA Neurology 72 4: 460–7 PMID 25686319 doi:101001/jamaneurol20143889 
  31. ^ Batla A, Tai XY, Schottlaender L, Erro R, Balint B, Bhatia KP 2017 "Deconstructing Fahr's disease/syndrome of brain calcification in the era of new genes" Parkinsonism & Related Disorders 37: 1–10 PMID 28162874 doi:101016/jparkreldis201612024 
  32. ^ Matsumoto T, Yokote K, Take A, Takemoto M, Asaumi S, Hashimoto Y, Matsuda M, Saito Y, Mori S April 2000 "Differential interaction of CrkII adaptor protein with platelet-derived growth factor alpha- and beta-receptors is determined by its internal tyrosine phosphorylation" Biochem Biophys Res Commun 270 1: 28–33 PMID 10733900 doi:101006/bbrc20002374 
  33. ^ Yamamoto M, Toya Y, Jensen RA, Ishikawa Y March 1999 "Caveolin is an inhibitor of platelet-derived growth factor receptor signaling" Exp Cell Res 247 2: 380–8 PMID 10066366 doi:101006/excr19984379 
  34. ^ a b c Braverman LE, Quilliam LA February 1999 "Identification of Grb4/Nckbeta, a src homology 2 and 3 domain-containing adapter protein having similar binding and biological properties to Nck" J Biol Chem 274 9: 5542–9 PMID 10026169 doi:101074/jbc27495542 
  35. ^ Arvidsson AK, Rupp E, Nånberg E, Downward J, Rönnstrand L, Wennström S, Schlessinger J, Heldin CH, Claesson-Welsh L October 1994 "Tyr-716 in the platelet-derived growth factor beta-receptor kinase insert is involved in GRB2 binding and Ras activation" Mol Cell Biol 14 10: 6715–26 PMC 359202  PMID 7935391 doi:101128/mcb14106715 
  36. ^ Tang J, Feng GS, Li W October 1997 "Induced direct binding of the adapter protein Nck to the GTPase-activating protein-associated protein p62 by epidermal growth factor" Oncogene 15 15: 1823–32 PMID 9362449 doi:101038/sjonc1201351 
  37. ^ Li W, Hu P, Skolnik EY, Ullrich A, Schlessinger J December 1992 "The SH2 and SH3 domain-containing Nck protein is oncogenic and a common target for phosphorylation by different surface receptors" Mol Cell Biol 12 12: 5824–33 PMC 360522  PMID 1333047 doi:101128/MCB12125824 
  38. ^ Chen M, She H, Davis EM, Spicer CM, Kim L, Ren R, Le Beau MM, Li W September 1998 "Identification of Nck family genes, chromosomal localization, expression, and signaling specificity" J Biol Chem 273 39: 25171–8 PMID 9737977 doi:101074/jbc2733925171 
  39. ^ Chen M, She H, Kim A, Woodley DT, Li W November 2000 "Nckbeta adapter regulates actin polymerization in NIH 3T3 fibroblasts in response to platelet-derived growth factor bb" Mol Cell Biol 20 21: 7867–80 PMC 86398  PMID 11027258 doi:101128/mcb20217867-78802000 
  40. ^ Rupp E, Siegbahn A, Rönnstrand L, Wernstedt C, Claesson-Welsh L, Heldin CH October 1994 "A unique autophosphorylation site in the platelet-derived growth factor alpha receptor from a heterodimeric receptor complex" Eur J Biochem 225 1: 29–41 PMID 7523122 doi:101111/j1432-1033199400029x 
  41. ^ Seifert RA, Hart CE, Phillips PE, Forstrom JW, Ross R, Murray MJ, Bowen-Pope DF May 1989 "Two different subunits associate to create isoform-specific platelet-derived growth factor receptors" J Biol Chem 264 15: 8771–8 PMID 2542288 
  42. ^ Keilhack H, Müller M, Böhmer SA, Frank C, Weidner KM, Birchmeier W, Ligensa T, Berndt A, Kosmehl H, Günther B, Müller T, Birchmeier C, Böhmer FD January 2001 "Negative regulation of Ros receptor tyrosine kinase signaling An epithelial function of the SH2 domain protein tyrosine phosphatase SHP-1" J Cell Biol 152 2: 325–34 PMC 2199605  PMID 11266449 doi:101083/jcb1522325 
  43. ^ Lechleider RJ, Sugimoto S, Bennett AM, Kashishian AS, Cooper JA, Shoelson SE, Walsh CT, Neel BG October 1993 "Activation of the SH2-containing phosphotyrosine phosphatase SH-PTP2 by its binding site, phosphotyrosine 1009, on the human platelet-derived growth factor receptor" J Biol Chem 268 29: 21478–81 PMID 7691811 
  44. ^ Farooqui T, Kelley T, Coggeshall KM, Rampersaud AA, Yates AJ 1999 "GM1 inhibits early signaling events mediated by PDGF receptor in cultured human glioma cells" Anticancer Res 19 6B: 5007–13 PMID 10697503 
  45. ^ Ekman S, Kallin A, Engström U, Heldin CH, Rönnstrand L March 2002 "SHP-2 is involved in heterodimer specific loss of phosphorylation of Tyr771 in the PDGF beta-receptor" Oncogene 21 12: 1870–5 PMID 11896619 doi:101038/sjonc1205210 
  46. ^ Yokote K, Mori S, Hansen K, McGlade J, Pawson T, Heldin CH, Claesson-Welsh L May 1994 "Direct interaction between Shc and the platelet-derived growth factor beta-receptor" J Biol Chem 269 21: 15337–43 PMID 8195171 
  47. ^ Maudsley S, Zamah AM, Rahman N, Blitzer JT, Luttrell LM, Lefkowitz RJ, Hall RA November 2000 "Platelet-derived growth factor receptor association with Na+/H+ exchanger regulatory factor potentiates receptor activity" Mol Cell Biol 20 22: 8352–63 PMC 102142  PMID 11046132 doi:101128/mcb20228352-83632000 

Further readingedit

  • Hart CE, Bowen-Pope DF 1990 "Platelet-derived growth factor receptor: current views of the two-subunit model" J Invest Dermatol 94 6 Suppl: 53S–57S PMID 2161888 doi:101111/1523-1747ep12875065 
  • Steer EJ, Cross NC 2002 "Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta" Acta Haematol 107 2: 113–22 PMID 11919393 doi:101159/000046641 

External linksedit

  • CD140B Antigen at the US National Library of Medicine Medical Subject Headings MeSH
  • Molecular and Cellular Biology portal

pdgfrb, pdgfrb and cyclin d1, pdgfrb antibody, pdgfrb fish probe, pdgfrb gene images, pdgfrb inhibitor, pdgfrb mutation, pdgfrb pathway, pdgfrb rearrangements, pdgfrb staining


PDGFRB Information about

PDGFRB


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    29.10.2014


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