Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5155
Gene name Gene Name - the full gene name approved by the HGNC.
Platelet derived growth factor subunit B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDGFB
Synonyms (NCBI Gene) Gene synonyms aliases
IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IBGC5
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor sub
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs397515631 G>A Pathogenic Stop gained, coding sequence variant
rs397515632 A>G Pathogenic Missense variant, coding sequence variant
rs397515633 G>A Pathogenic Stop gained, coding sequence variant
rs398122398 C>G Pathogenic Terminator codon variant, stop lost
rs398122399 C>T Pathogenic Initiator codon variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005548 hsa-miR-146b-3p ELISA, Immunoblot, Microarray, qRT-PCR 21266476
MIRT029444 hsa-miR-26b-5p Microarray 19088304
MIRT053627 hsa-let-7f-5p Microarray 22942087
MIRT438914 hsa-miR-29b-3p Luciferase reporter assay, qRT-PCR 23354167
MIRT438914 hsa-miR-29b-3p Luciferase reporter assay, qRT-PCR 23354167
Transcription factors
Transcription factor Regulation Reference
EGR1 Activation 16092976
ELK1 Unknown 9690620
FOXO1 Unknown 19244250
SP1 Unknown 22415074
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000165 Process MAPK cascade TAS
GO:0001892 Process Embryonic placenta development ISS
GO:0001938 Process Positive regulation of endothelial cell proliferation IDA 9685360
GO:0002548 Process Monocyte chemotaxis IDA 17991872
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190040 8800 ENSG00000100311
Protein
UniProt ID P01127
Protein name Platelet-derived growth factor subunit B (PDGF subunit B) (PDGF-2) (Platelet-derived growth factor B chain) (Platelet-derived growth factor beta polypeptide) (Proto-oncogene c-Sis) (Becaplermin)
Protein function Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferati
PDB 1PDG , 3MJG , 4HQU , 4HQX , 4QCI , 6T9E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04692 PDGF_N 21 93 Platelet-derived growth factor, N terminal region Family
PF00341 PDGF 97 180 PDGF/VEGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in the heart, brain (sustantia nigra), placenta and fetal kidney. Expressed at moderate levels in the brain (hippocampus), skeletal muscle, kidney and lung. {ECO:0000269|PubMed:11331882}.
Sequence
Sequence length 241
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
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
MicroRNAs in cancer
Renal cell carcinoma
Glioma
Prostate cancer
Melanoma
Choline metabolism in cancer
Fluid shear stress and atherosclerosis
  Platelet degranulation
PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
Non-integrin membrane-ECM interactions
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
Basal ganglia calcification BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, Idiopathic basal ganglia calcification 1 rs1586022262, rs387906652, rs387906653, rs397509381, rs367543286, rs398122396, rs398122397, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs786205901, rs786205902, rs786205903
View all (29 more)
27227165, 26599395, 26129893, 23913003, 25211641
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Meningioma Meningioma, Familial meningioma rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937
View all (3 more)
2212004
Unknown
Disease term Disease name Evidence References Source
Brain neoplasms Neoplasm of the posterior pituitary, Neoplasm of the anterior pituitary ClinVar
Cirrhosis Cirrhosis 22004089 ClinVar
Dermatofibrosarcoma protuberans Dermatofibrosarcoma Protuberans, Dermatofibrosarcoma Protuberans, Myxoid ClinVar
Hypothalamic hypothyroidism Hypothalamic hypothyroidism ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 24299561
Adenocarcinoma Clear Cell Associate 18084257
Adenocarcinoma of Lung Associate 34301211
Antiphospholipid Syndrome Associate 34489952
Astrocytoma Associate 2164040
Atherosclerosis Associate 1906887, 3282240, 38175715
Atherosclerosis Stimulate 2434949
Blood Platelet Disorders Associate 26367242
Brain Diseases Associate 16731589
Brain Neoplasms Associate 33568653