• KinATLAS
  • TranscriptoNET
  • PhosphoNET
  • OncoNET
  • KinaseNET
  • DrugKiNET
  • DrugProNET
  • KiNET-AM
  • Kinetica Online

Updated November 2019

Home | Kinexus | Contact | Credits

Nomenclature

Short Name:
PDGFRB
Full Name:
Beta platelet-derived growth factor receptor
Alias:
  • CD140b
  • PDGFRb
  • PDGFR-beta
  • PDGF-R-beta
  • Platelet-derived growth factor receptor, beta polypeptide
  • EC 2.7.10.1
  • JTK12
  • Kinase PDGFR-beta
  • PDGFR
  • PDGFR1

Classification

Type:
Protein-tyrosine kinase
Group:
TK
Family:
PDGFR
SubFamily:
NA
 
 

Specific Links

Entrez-Gene Entry: 5159
Entrez-Protein Entry: NP_002600
GeneCards Entry: JTK12
KinBASE Entry: PDGFRB
OMIM Entry: 173410
Pfam Entry: P09619
PhosphoNET Entry: P09619
Phosphosite Plus Entry: 634
Protein Data Bank Entry: 1GQ5
ScanSite Entry: P09619
Source Entry: PDGFRB
UCSD-Nature Entry: A001846
UniProt Entry: P09619
Kinexus Products: PDGFRB
Platelet-derived growth factor receptor kinase beta pan-specific antibody AB-NK243-1
Platelet-derived growth factor receptor kinase beta pan-specific antibody AB-NK243-3
Platelet-derived growth factor receptor kinase beta (K164-G178, human) peptide - Powder PE-01AUY99
Platelet-derived growth factor receptor kinase beta (S66-T80, human) peptide - Powder PE-01BBX99

General Links

ClustalW2
GPS-Cuckoo
Human Protein Atlas
Kinase.com
Kinase Research
Kinasource
Kinomer
Netphorest
NetworKIN
Phosida
PhosphoElm
Protein Blast
ScanSite
String

Structure

Mol. Mass (Da):
123,968
# Amino Acids:
1106
# mRNA Isoforms:
2
mRNA Isoforms:
123,968 Da (1106 AA; P09619); 37,412 Da (336 AA; P09619-2)
4D Structure:
Homodimer, and heterodimer with PDGFRA. Interacts with APS. The autophosphorylated form interacts directly with SHB and with PIK3C2B, maybe indirectly. Interacts with GRB10
1D Structure:
Retrieve Gene Sequence
Retrieve Full Protein Sequence
Retrieve Catalytic Domain Sequence
 
3D Image (rendered using PV Viewer):

PDB ID
3MJG

Subfamily Alignment
subfamily domain
 
Domain Distribution:
Start End Domain
1 32 signal_peptide
33 120 IGc2
214 309 IGc2
331 403 IGc2
534 556 TMD
600 958 TyrKc
416 524 IG
600 962 Pkinase
 

Kinexus Products

Click on entries below for direct links to relevant products from Kinexus for this protein kinase.
hiddentext
○ Platelet-derived growth factor receptor kinase beta pan-specific antibody AB-NK243-1
○ Platelet-derived growth factor receptor kinase beta pan-specific antibody AB-NK243-3
○ Platelet-derived growth factor receptor kinase beta (K164-G178, human) peptide - Powder PE-01AUY99
○ Platelet-derived growth factor receptor kinase beta (S66-T80, human) peptide - Powder PE-01BBX99
 

Post-translation Modifications

For detailed information on phosphorylation of this kinase go to PhosphoNET
N-GlcNAcylated:
N45, N89, N103, N215, N230, N292, N307, N354, N371, N468, N479.
Serine phosphorylated:

S212, S213, S608+, S712, S717, S855+, S930, S1104.
Threonine phosphorylated:

T605.
Tyrosine phosphorylated:

Y562, Y579+, Y581+, Y678, Y683, Y686+, Y692, Y716+, Y740+, Y751+, Y763, Y771, Y775, Y778, Y857+, Y921, Y934+, Y970+, Y1009, Y1021.
Ubiquitinated:
K707.
 

Distribution

Based on gene microarray analysis from the NCBI
Human Tissue Distribution
% Max Expression:

Mean Expression:

Number of Samples:

Standard Deviation:
% Max Expression:

Mean Expression:

Number of Samples:

Standard Deviation:
  • adipose
    -

    -

    -

    -

  • adrenal
    -

    -

    -

    -

  • bladder
    -

    -

    -

    -

  • brain
    -

    -

    -

    -

  • breast
    -

    -

    -

    -

  • cervix
  • colon
    -

    -

    -

    -

  • heart
    -

    -

    -

    -

  • intestine
    -

    -

    -

    -

  • kidney
    -

    -

    -

    -

  • liver
    -

    -

    -

    -

  • lung
    -

    -

    -

    -

  • lymphnode
    -

    -

    -

    -

  • ovary
    -

    -

    -

    -

  • pancreas
    -

    -

    -

    -

  • pituitary
    -

    -

    -

    -

  • prostate
    -

    -

    -

    -

  • salivarygland
    -

    -

    -

    -

  • skeletalmuscle"
    -

    -

    -

    -

  • skin
    -

    -

    -

    -

  • spinalcord
    -

    -

    -

    -

  • spleen
    -

    -

    -

    -

  • stomach
    -

    -

    -

    -

  • testis
    -

    -

    -

    -

  • thymus
    -

    -

    -

    -

  • thyroid
    -

    -

    -

    -

  • tonsil
    -

    -

    -

    -

  • trachea
    -

    -

    -

    -

  • uterus
    -

    -

    -

    -

  • reticulocytes"
    -

    -

    -

    -

  • t-lymphocytes
    -

    -

    -

    -

  • b-lymphocytes
    -

    -

    -

    -

  • neutrophils
    -

    -

    -

    -

  • macrophages
    -

    -

    -

    -

  • sperm
    -

    -

    -

    -

 

Evolution

Species Conservation
PhosphoNET % Identity:
PhosphoNET % Similarity:
Homologene %
Identity:
PhosphoNET % Identity:
PhosphoNET % Similarity:
Homologene %
Identity:
  • tableheader
    100

    100

    100
  • tableheader
    96

    96.4

    98
  • tableheader
    96

    96.4

    98
  • tableheader
    -

    -

    91
  • tableheader
    -

    -

    98
  • tableheader
    98.3

    99.1

    90
  • tableheader
    44.4

    62.9

    -
  • tableheader
    -

    -

    86
  • tableheader
    85.5

    92.3

    86
  • tableheader
    85.8

    92.3

    -
  • tableheader
    47.8

    59.1

    -
  • tableheader
    47.8

    59.1

    68.5
  • tableheader
    43.6

    60.9

    -
  • tableheader
    45.5

    63

    53
  • tableheader
    43.1

    60.2

    -
  • tableheader
    31.7

    47.6

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
  • tableheader
    -

    -

    -
For a wider analysis go to PhosphoNET Evolution in PhosphoNET
 

Binding Proteins

Examples of known interacting proteins
hiddentext
No. Name – UniProt ID
1 PLCG1 - P19174
2 PIK3R1 - P27986
3 PTPN11 - Q06124
4 NCK1 - P16333
5 GRB2 - P62993
6 PDGFB - P01127
7 NCK2 - O43639
8 PTPN1 - P18031
9 CRK - P46108
10 SHC1 - P29353
11 SLC9A3R1 - O14745
12 PTEN - P60484
13 SLC9A3R2 - Q15599
14 RAF1 - P04049
15 SYNGAP1 - Q96PV0
 

Regulation

Activation:
Activated by binding platelet-derived growth factor, which induces dimerization and autophosphorylation. Autophosphorylation of Tyr-1021 induces interaction with PLCg1. Autophosphorylation of Tyr-579 increases phosphotransferase activity and induces interaction with PIK3R1, PLCg1, RasGAP, Shc1 and Src. Autophosphorylation of Tyr-581 increases phosphotransferase activity and induces interaction with PIK3R1, PLCg1, RasGAP, and Src. Autophosphorylation of Tyr-716 increases phosphotransferase activity and induces interaction with Grb2 and Grb7. Autophosphorylation of Tyr-740, Tyr-751 increases phosphotransferase activity and induces interaction with PIK3C2A, PIK3CA, PIK3R1, and Shc1. Autophosphorylation of Tyr-763 induces interaction with protein-tyrosine phosphatase SHP2. Autophosphorylation of Tyr-771 induces interaction with RasGAP and Shc1. Autophosphorylation of Tyr-775 induces interaction with Grb7.
Inhibition:
Phosphorylation of Tyr-1009 induces interaction with Cbl, PLCg1, SH3KBP1 and SHP2, and inhibits binding to PIK3R1 and RasGAP.
Synthesis:
NA
Degradation:
NA
 

Kinections Map

Click here to download a PPT of the image below
 
Kinections GIF
 

Known Upstream Kinases

For further details on these substrates click on the Substrate Short Name or UniProt ID. Phosphosite Location is hyperlinked to PhosphoNET predictions.
Based on in vitro and/or in vivo phosphorylation data

Kinase Short Name UniProt ID (Human) Phosphosite Location Phosphosite Sequence Effect of Phosphorylation
PDGFRB P09619 Y562 LWQKKPRYEIRWKVI
PDGFRB P09619 Y579 VSSDGHEYIYVDPMQ +
PDGFRB P09619 Y581 SDGHEYIYVDPMQLP +
ARG P42684 Y686 IITEYCRYGDLVDYL +
PDGFRB P09619 Y716 RPPSAELYSNALPVG +
PDGFRB P09619 Y740 TGESDGGYMDMSKDE +
PDGFRB P09619 Y751 SKDESVDYVPMLDMK +
PDGFRB P09619 Y763 DMKGDVKYADIESSN ?
PDGFRB P09619 Y771 ADIESSNYMAPYDNY ?
PDGFRB P09619 Y775 SSNYMAPYDNYVPSA ?
PDGFRB P09619 Y778 YMAPYDNYVPSAPER
PDGFRB P09619 Y857 DIMRDSNYISKGSTF +
PDGFRB P09619 Y1009 LDTSSVLYTAVQPNE ?
PDGFRB P09619 Y1021 PNEGDNDYIIPLPDP ?
 

Known Downstream Substrates

For further details on these substrates click on the Substrate Short Name or UniProt ID. Phosphosite Location is hyperlinked to PhosphoNET predictions.
Based on in vitro and/or in vivo phosphorylation data

Substrate Short Name UniProt ID (Human) Phosphosite Location Phosphosite Sequence Effect of Phosphorylation
Arg (Abl2) P42684 Y139 EKLRVLGYNQNGEWS
Arg (Abl2) P42684 Y161 QGWVPSNYITPVNSL
Arg (Abl2) P42684 Y272 KCNKPTVYGVSPIHD
Fyn P06241 Y28 SLNQSSGYRYGTDPT
PDGFRA P16234 Y754 ERKEVSKYSDIQRSL
PDGFRB P09619 Y1009 LDTSSVLYTAVQPNE ?
PDGFRB P09619 Y1021 PNEGDNDYIIPLPDP ?
PDGFRB P09619 Y562 LWQKKPRYEIRWKVI
PDGFRB P09619 Y579 VSSDGHEYIYVDPMQ +
PDGFRB P09619 Y581 SDGHEYIYVDPMQLP +
PDGFRB P09619 Y716 RPPSAELYSNALPVG +
PDGFRB P09619 Y740 TGESDGGYMDMSKDE +
PDGFRB P09619 Y751 SKDESVDYVPMLDMK +
PDGFRB P09619 Y763 DMKGDVKYADIESSN ?
PDGFRB P09619 Y771 ADIESSNYMAPYDNY ?
PDGFRB P09619 Y775 SSNYMAPYDNYVPSA ?
PDGFRB P09619 Y778 YMAPYDNYVPSAPER
PDGFRB P09619 Y857 DIMRDSNYISKGSTF +
PIK3R1 P27986 Y508 QERYSKEYIEKFKRE
PTPN11 (SHP2) Q06124 Y546 SKRKGHEYTNIKYSL +
SH2-Bb Q9NRF2 Y439 DRLSQGAYGGLSDRP
Src P12931 Y139 TGYIPSNYVAPSDSI
Src P12931 Y419 RLIEDNEYTARQGAK +
 

Protein Kinase Specificity

Matrix of observed frequency (%) of amino acids in aligned protein substrate phosphosites

Kinections GIF
Matrix Type:
Experimentally derived from alignment of 26 known protein substrate phosphosites and 64 peptides phosphorylated by recombinant PDGFRB in vitro tested in-house by Kinexus.
Domain #:
1
 

Inhibitors

For further details on these inhibitors click on the Compound Name and enter it into DrugKiNET or click on the ID's
Based on in vitro and/or in vivo phosphorylation data
Compound Name KD, Ki or IC50 (nM) PubChem ID ChEMBL ID PubMed ID
Sunitinib Kd = 75 pM 5329102 535 18183025
Ki-20227 Kd = 290 pM 9869779 1908396 22037378
Lestaurtinib Kd = 290 pM 126565 18183025
SU14813 Kd = 290 pM 10138259 1721885
Cediranib Kd = 320 pM 9933475 491473 22037378
Axitinib Kd = 570 pM 6450551 1289926 22037378
Dasatinib Kd = 630 pM 11153014 1421 18183025
Foretinib Kd = 960 pM 42642645 1230609 22037378
CP673451 IC50 = 1 nM 10158940 15705896
Toceranib IC50 = 1 nM 5329106 13608 12646019
Quizartinib Kd = 1.6 nM 24889392 576982 20925433
Crenolanib IC50 = 1.8 nM 10366136
Staurosporine Kd = 1.8 nM 5279 18183025
Linifanib Kd = 1.9 nM 11485656 223360 18183025
Pazopanib Kd = 2 nM 10113978 477772 18183025
CHEMBL504075 Kd = 2.3 nM 25218459 504075 19128971
CHEMBL1784637 IC50 = 2.6 nM 46864270 1784637 21561767
SU11652 IC50 = 3 nM 24906267 13485 12646019
Dovitinib Kd = 3.8 nM 57336746 18183025
JNJ-10198409 IC50 = 4.2 nM 9797370 120077 16366598
Tandutinib Kd = 4.5 nM 3038522 124660 18183025
2hiw EC50 = 6 nM 10062694 18077425
CHEMBL436137 IC50 = 6 nM 11719421 436137 16931012
Ponatinib IC50 = 7.7 nM 24826799 20513156
AST-487 Kd = 8.1 nM 11409972 574738 18183025
Masitinib Kd = 8.4 nM 10074640 22037378
Motesanib Kd = 9.1 nM 11667893 572881 18183025
AC1NS4N8 Kd < 10 nM 5353854 101797 19035792
CHEMBL249097 Kd < 10 nM 25138012 249097 19035792
Hesperadin Kd < 10 nM 10142586 514409 19035792
Ki11502 IC50 < 10 nM 18309036
Sorafenib IC50 = 10 nM 216239 1336 18942827
SureCN7018367 Kd < 10 nM 18792927 450519 19035792
Nintedanib Kd = 15 nM 9809715 502835 22037378
Telatinib IC50 = 15 nM 9808844 18519779
Novonex IC50 = 18 nM 23696523 15766665
Regorafenib IC50 = 22 nM 11167602 21170960
Nilotinib IC50 = 25 nM 644241 255863 20166671
Vatalanib Kd = 25 nM 151194 101253 18183025
JNJ-28312141 Kd = 28 nM 22037378
KW2449 Kd = 30 nM 11427553 1908397 22037378
SureCN3936664 IC50 = 31 nM 11626920 475817 19097792
Lenvatinib IC50 = 39 nM 9823820 17943726
XL820 IC50 = 39.5 nM
Amuvatinib IC50 = 40 nM 16058702
AZD1152 Kd = 41 nM 11497983 19320489
Barasertib Kd = 41 nM 16007391 215152 18183025
CHEMBL511337 Kd = 42 nM 44588220 511337 19035792
TG101348 Kd = 45 nM 16722836 1287853 22037378
Tivozanib IC50 = 49 nM 9911830 16982756
Brivanib Kd = 50 nM 11234052 377300 22037378
CHEMBL1964275 Kd < 50 nM 57394915 1964275 19035792
Orantinib IC50 = 50 nM 5329099 274654 19110422
PDK1/Akt/Flt Dual Pathway Inhibitor IC50 > 50 nM 5113385 599894 22037377
SureCN5632345 Kd < 50 nM 44593646 515466 19035792
CHEMBL1240703 Kd = 68 nM 52945601 1240703 19654408
Semaxinib IC50 = 68 nM 5329098 276711 16565716
Vandetanib Kd = 88 nM 3081361 24828 18183025
AT9283 IC50 > 100 nM 24905142 19143567
CHEMBL195641 IC50 = 110 nM 44401410 195641 15808450
N-Benzoylstaurosporine Kd = 110 nM 56603681 608533 18183025
BML-275 IC50 > 150 nM 11524144 478629 22037377
Flt-3 Inhibitor III IC50 > 150 nM 11772958 22037377
K-252a; Nocardiopsis sp. IC50 > 150 nM 3813 281948 22037377
NVP-TAE684 Kd = 150 nM 16038120 509032 22037378
PDGF Receptor Tyrosine Kinase Inhibitor III IC50 > 150 nM 10907042 22037377
SB218078 IC50 > 150 nM 447446 289422 22037377
SureCN373973 Kd < 150 nM 9818573 30678 19035792
GW 843682X IC50 = 160 nM 9826308 514499 19097784
Flt-3 Inhibitor II IC50 = 171 nM 11601743 377193 16722630
Bafetinib IC50 = 200 nM 24853523 16105974
BMS-690514 Kd < 200 nM 11349170 21531814
Bosutinib Kd = 200 nM 5328940 288441 22037378
PLX4720 Kd = 200 nM 24180719 1230020 22037378
Cabozantinib IC50 = 234 nM 25102847 21926191
RAF265 Kd = 240 nM 11656518 558752 18183025
GSK-3 Inhibitor IX IC50 > 250 nM 5287844 409450 22037377
IDR E804 IC50 > 250 nM 6419764 1802727 22037377
JAK3 Inhibitor VI IC50 > 250 nM 16760524 22037377
PKR Inhibitor IC50 > 250 nM 6490494 235641 22037377
TWS119 IC50 > 250 nM 9549289 405759 22037377
CHEMBL194721 IC50 = 290 nM 44401437 194721 15808450
Tozasertib Kd = 310 nM 5494449 572878 18183025
AC1NS3A1 IC50 = 330 nM 5327885 9599227
AC1NS3UT IC50 = 360 nM 5328135 45827 11384237
CHEMBL281820 IC50 = 477 nM 44275237 281820 12477352
Bafetinib IC50 = 500 nM 24853523 16105974
Cdk1/2 Inhibitor III IC50 = 500 nM 5330812 261720 22037377
GSK-3 Inhibitor X IC50 = 500 nM 6538818 430226 22037377
GSK-3 Inhibitor XIII IC50 = 500 nM 6419766 359482 22037377
GTP-14564 IC50 = 500 nM 3385203 406375 22037377
NU6140 IC50 = 500 nM 10202471 1802728 22037377
VEGFR Kinase Inhibitor II IC50 = 500 nM 9797919 101683 22037377
CHEMBL201511 IC50 = 680 nM 11530963 201511 17149885
AC1NS90Q IC50 = 725 nM 5330392 372657 16033269
PP121 IC50 < 750 nM 24905142 18849971
AG1296 = 800 nM 2049 71191
VX745 Kd = 870 nM 3038525 119385 15711537
JNJ-7706621 Kd = 910 nM 5330790 191003 18183025
VEGFR2 Kinase Inhibitor II IC50 = 920 nM 5329155 88606 10893303
AG-E-60384 IC50 > 1 µM 6419741 413188 22037377
AGL2043 IC50 > 1 µM 9817165 22037377
CHEMBL566515 Kd = 1 µM 44478401 566515 19788238
Doramapimod Kd = 1 µM 156422 103667 15711537
Gö6976 IC50 > 1 µM 3501 302449 22037377
MK5108 IC50 > 1 µM 24748204 20053775
Silmitasertib IC50 > 1 µM 24748573 21174434
SNS314 IC50 > 1 µM 16047143 514582 18678489
Syk Inhibitor IC50 > 1 µM 6419747 104279 22037377
TG101209 IC50 > 1 µM 16722832 17541402
VEGFR2 Kinase Inhibitor IV IC50 > 1 µM 5329468 92461 22037377
VX702 IC50 > 1 µM 10341154 1090090 22037377
WZ3146 Kd > 1 µM 44607360 20033049
WZ4002 Kd > 1 µM 44607530 20033049
D65476 IC50 = 1.1 µM 5330548 266325 11855980
PD089828 IC50 = 1.1 µM 5328112 57366 15780636
IKK-2 Inhibitor IV Kd < 1.25 µM 9903786 257167 19035792
LKB1(AAK1 dual inhibitor) Kd < 1.25 µM 44588117 516312 19035792
SureCN5302803 Kd < 1.25 µM 24788740 19035792
Erlotinib Kd = 1.4 µM 176870 553 18183025
BCP9000906 IC50 = 1.49 µM 5494425 21156 11934592
AC1NS90N IC50 = 1.7 µM 5330391 371169 16033269
PHA-665752 Kd = 1.9 µM 10461815 450786 22037378
Momelotinib IC50 > 2 µM 25062766 19295546
CHEMBL230686 Ki = 2.09 µM 11562302 230686 17113292
AC1NS8RA IC50 = 2.46 µM 5330279 365847 15801830
AC1O6ZUA Kd < 2.5 µM 6539569 408019 19035792
AC1NS39G IC50 = 2.7 µM 5327878 9599227
ZINC00016978 IC50 = 3 µM 5329009 301018 19211246
CI-1040 Kd = 3.1 µM 6918454 105442 22037378
CHEMBL1288582 IC50 = 3.2 µM 49839480 1288582 20965724
Enzastaurin Kd = 3.3 µM 176167 300138 22037378
ZD4190 IC50 = 3.4 µM 24764449 11881999
SureCN4875304 IC50 > 3.5 µM 46871765 20472445
SU4312 IC50 = 3.7 µM 6450842 328710 20403700
2-aminopyrido[2;3-d]pyrimidin-7(8H)-one 2 IC50 = 3.8 µM 5327864 9784112
GSK690693 Kd = 3.9 µM 16725726 494089 22037378
JNJ-28871063 IC50 > 4 µM 17747413 17975007
VEGFR2 Kinase Inhibitor I IC50 = 4 µM 6419834 86943 18077363
CHEMBL489083 IC50 = 4.2 µM 25178539 489083 19053831
CHEMBL103055 IC50 = 4.4 µM 10207821 103055 12941331
 

Disease Linkage

General Disease Association:

Cancer, blood, immune, cardiovascular, and bone disorders
Specific Diseases (Non-cancerous):

Eosinophilia; Chronic myeloproliferative disease; Polycythemia vera; Mastocytosis; Hypereosinophilic syndrome; Basal Ganglia Calcification, Idiopathic, 4; Myeloproliferative disorder with Eosinophilia; Infantile Myofibromatosis; Pigmented Villonodular Synovitis; Synovitis; Diabetic Angiopathy; Villonodular Synovitis; Tendinosis; Primary Familial Brain Calcification; Basal Ganglia Calcification, Idiopathic, 1; Hypereosinophilic syndrome, Idiopathic, Resistant to Imatinib; Unclassified Chronic myeloproliferative disease; Primary Familial Brain Calcification 4
Comments:
L658P and R987W substitutions in PDGFRB are associated with Basal ganglia calcification, idiopathic, 4, which is a form of basal ganglia calcification and can show a wide range of neuropsychiatric symptoms. Heterozygous missense R5611 mutations in this gene have been identified with infantile Myofibromatosis 1.
 
Specific Cancer Types:
Myeloid neoplasm associated with PDGFRB rearrangement; PDGFRB-associated chronic eosinophilic leukemias; Myeloproliferative disorder; Chronic myelomonocytic leukemias (CMML); Gastrointestinal stromal tumours (GIST); Dermatofibrosarcoma protuberans (DFSP); Dermatofibrosarcoma; desmoid tumours; Gliosarcomas; Pilocytic astrocytomas (PA); Uterine sarcomas; Myofibromatosis, infantile, 1; Astrocytomas; brain cancer; Solitary fibrous tumours (SFT); Choroid plexus carcinomas (CPC)
Comments:
PDGFRB is a known oncoprotein (OP). Cancer-related mutations in human tumours point to a gain of function of the protein kinase. The active form of the protein kinase normally acts to promote tumour cell proliferation. R561C and P660T mutations in PDGFRB are associated with myofibromatosis, infantile 1, which is a rare mesenchymal disorder featured by the development of benign tumours in multiple sites. A translocation between chromosomes 5 and 12 that fuses this gene to that of the translocation, results in chronic myeloproliferative disorder with eosinophilia.
 
Gene Expression in Cancers:

TranscriptoNET (www.transcriptonet.ca) analysis with mRNA expression data retrieved from the National Center for Biotechnology Information's Gene Expression Omnibus (GEO) database, which was normalized against 60 abundantly and commonly found proteins, indicated altered expression for this protein kinase as shown here as the percent change from normal tissue controls (%CFC) as supported with the Student T-test in the following types of human cancers: Barrett's esophagus epithelial metaplasia (%CFC= +48, p<0.016); Breast epithelial carcinomas (%CFC= +141, p<0.025); Breast epithelial hyperplastic enlarged lobular units (HELU) (%CFC= -54, p<0.004); Colorectal adenocarcinomas (early onset) (%CFC= +138, p<0.001); Gastric cancer (%CFC= +66, p<0.003); Oral squamous cell carcinomas (OSCC) (%CFC= +138, p<0.013); Uterine fibroids (%CFC= +81, p<0.015); and Vulvar intraepithelial neoplasia (%CFC= -57, p<0.032). The COSMIC website notes an up-regulated expression score for PDGFRB in diverse human cancers of 330, which is 0.7-fold of the average score of 462 for the human protein kinases. The down-regulated expression score of 3 for this protein kinase in human cancers was 0.1-fold of the average score of 60 for the human protein kinases.
Mutagenesis Experiments:

Insertional mutagenesis studies in mice support a role for this protein kinase in mouse cancer oncogenesis.
Mutation Rate in All Cancers:

Percent mutation rates per 100 amino acids length in human cancers: 0.09 % in 25820 diverse cancer specimens. This rate is only 22 % higher than the average rate of 0.075 % calculated for human protein kinases in general.
Mutation Rate in Specific Cancers:

Highest percent mutation rates per 100 amino acids length in human cancers: 0.52 % in 805 skin cancers tested; 0.39 % in 1152 large intestine cancers tested; 0.34 % in 629 stomach cancers tested; 0.2 % in 500 urinary tract cancers tested; 0.18 % in 602 endometrium cancers tested; 0.13 % in 1942 lung cancers tested; 0.06 % in 1544 breast cancers tested.
Frequency of Mutated Sites:

None > 4 in 20,915 cancer specimens
Comments:
Only 1 deletion, and no insertions or complex mutations are noted on the COSMIC website.
 
COSMIC Entry:
PDGFRB
OMIM Entry:
173410
  • Home
  • Top of Page
Copyright 2019 Kinexus BioInformatics Corporation