Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5159
Gene name Gene Name - the full gene name approved by the HGNC.
Platelet derived growth factor receptor beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDGFRB
Synonyms (NCBI Gene) Gene synonyms aliases
CD140B, IBGC4, IMF1, JTK12, KOGS, OPDKD, PDGFR, PDGFR-1, PDGFR1, PENTT
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IBGC4, IMF1, KOGS, OPDKD, PENTT
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs138008832 G>A,T Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs144050370 G>T Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs367543286 G>A Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs397509381 A>G Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs397509382 G>A Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000770 hsa-miR-224-5p Microarray, Northern blot 16331254
MIRT053383 hsa-miR-34a-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 23805317
MIRT053383 hsa-miR-34a-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 23805317
MIRT053384 hsa-miR-34c-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 23805317
MIRT053384 hsa-miR-34c-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 23805317
Transcription factors
Transcription factor Regulation Reference
TP53 Activation 18697203
ZNF24 Repression 20510677
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004713 Function Protein tyrosine kinase activity IDA 1653029
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0004992 Function Platelet activating factor receptor activity TAS 2536956
GO:0005017 Function Platelet-derived growth factor-activated receptor activity TAS 2536956
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
173410 8804 ENSG00000113721
Protein
UniProt ID P09619
Protein name Platelet-derived growth factor receptor beta (PDGF-R-beta) (PDGFR-beta) (EC 2.7.10.1) (Beta platelet-derived growth factor receptor) (Beta-type platelet-derived growth factor receptor) (CD140 antigen-like family member B) (Platelet-derived growth factor r
Protein function Tyrosine-protein kinase that acts as a 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, di
PDB 1GQ5 , 1H9O , 1SHA , 2IUI , 2L6W , 2PLD , 2PLE , 3MJG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 37 114 Immunoglobulin domain Domain
PF13927 Ig_3 213 295 Domain
PF07679 I-set 327 413 Immunoglobulin I-set domain Domain
PF07714 PK_Tyr_Ser-Thr 600 958 Protein tyrosine and serine/threonine kinase Domain
Sequence
MRLPGAMPALALKGELLLLSLLLLLEPQISQGLVVTPPGPELVLNVSSTFVLTCSGSAPV
VWERMSQEPPQEMAKAQDGTFSSVLTLTNLTGLDTGEYFCTHNDSRGLETDERK
RLYIFV
PDPTVGFLPNDAEELFIFLTEITEITIPCRVTDPQLVVTLHEKKGDVALPVPYDHQRGFS
GIFEDRSYICKTTIGDREVDSDAYYVYRLQVSSINVSVNAVQTVVRQGENITLMCIVIGN
EVVNFEWTYPRKESGRLVEPVTDFLLDMPYHIRSILHIPSAELEDSGTYTCNVTE
SVNDH
QDEKAINITVVESGYVRLLGEVGTLQFAELHRSRTLQVVFEAYPPPTVLWFKDNRTLGDS
SAGEIALSTRNVSETRYVSELTLVRVKVAEAGHYTMRAFHEDAEVQLSFQLQI
NVPVRVL
ELSESHPDSGEQTVRCRGRGMPQPNIIWSACRDLKRCPRELPPTLLGNSSEEESQLETNV
TYWEEEQEFEVVSTLRLQHVDRPLSVRCTLRNAVGQDTQEVIVVPHSLPFKVVVISAILA
LVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQL
VLGRTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGP
HLNVVNLLGACTKGGPIYIITEYCRYGDLVDYLHRNKHTFLQHHSDKRRPPSAELYSNAL
PVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSNYMAPYDNYVP
SAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLV
KICDFGLARDIMRDSNYISKGSTFLPLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLG
GTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLL
ER
LLGEGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDND
YIIPLPDPKPEVADEGPLEGSPSLASSTLNEVNTSSTISCDSPLEPQDEPEPEPQLELQV
EPEPELEQLPDSGCPAPRAEAEDSFL
Sequence length 1106
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Regulation of actin cytoskeleton
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Glioma
Prostate cancer
Melanoma
Central carbon metabolism in cancer
Choline metabolism in cancer
  PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aging syndrome Acroosteolysis-keloid-like lesions-premature aging syndrome rs1554108211
Basal ganglia calcification BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, Idiopathic basal ganglia calcification 1 rs1586022262, rs387906652, rs387906653, rs397509381, rs367543286, rs398122396, rs398122397, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs786205901, rs786205902, rs786205903
View all (29 more)
25292412, 23255827, 24065723, 24796542, 26599395, 26129893
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Chondrocalcinosis Calcium pyrophosphate deposition disease rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Myeloproliferative neoplasm Myeloproliferative Neoplasm, Unclassifiable 17296564 ClinVar
Hypereosinophilic syndrome Primary hypereosinophilic syndrome ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acro Osteolysis Associate 30573803, 35689379
Adenocarcinoma Associate 21751195, 31308421
Adenoma Stimulate 20358421
Adrenocortical Carcinoma Associate 25078331
Aging Premature Associate 30573803, 33450762
Aicardi Goutieres syndrome Associate 24796542
Alzheimer Disease Associate 35695802, 37137722, 37264161
Aneurysm Associate 31031011, 35156398, 35689379
Angiofibroma Associate 35216046
Angiomyoma Associate 26085647, 37889065