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Aliases for PDGFB Gene

Aliases for PDGFB Gene

  • Platelet Derived Growth Factor Subunit B 2 3 5
  • Becaplermin 2 3 4
  • Platelet-Derived Growth Factor Beta Polypeptide (Simian Sarcoma Viral (V-Sis) Oncogene Homolog) 2 3
  • Platelet-Derived Growth Factor Beta Polypeptide 2 4
  • Platelet-Derived Growth Factor Subunit B 3 4
  • Platelet-Derived Growth Factor B Chain 3 4
  • Proto-Oncogene C-Sis 3 4
  • PDGF Subunit B 3 4
  • PDGF-2 3 4
  • PDGF2 3 4
  • SIS 3 4
  • Platelet-Derived Growth Factor, Beta Polypeptide (Oncogene SIS) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Platelet-Derived Growth Factor 2 3
  • PDGF, B Chain 3
  • Oncogene SIS 2
  • IBGC5 3
  • C-Sis 3
  • SSV 3

External Ids for PDGFB Gene

Previous HGNC Symbols for PDGFB Gene

  • SIS

Previous GeneCards Identifiers for PDGFB Gene

  • GC22M036234
  • GC22M037862
  • GC22M037944
  • GC22M039619
  • GC22M022587
  • GC22M039332
  • GC22M039640
  • GC22M043569
  • GC22M039855
  • GC22M039970
  • GC22M040662
  • GC22M041111
  • GC22M041515
  • GC22M041932
  • GC22M042363
  • GC22M043162

Summaries for PDGFB Gene

Entrez Gene Summary for PDGFB 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 subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

CIViC summary for PDGFB Gene

GeneCards Summary for PDGFB Gene

PDGFB (Platelet Derived Growth Factor Subunit B) is a Protein Coding gene. Diseases associated with PDGFB include Dermatofibrosarcoma Protuberans and Basal Ganglia Calcification, Idiopathic, 5. Among its related pathways are Cytoskeleton remodeling_Role of PDGFs in cell migration and RET signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is PDGFA.

UniProtKB/Swiss-Prot for PDGFB Gene

  • 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 proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity).

Tocris Summary for PDGFB 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.

Gene Wiki entry for PDGFB Gene

Additional gene information for PDGFB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDGFB Gene

Genomics for PDGFB Gene

GeneHancer (GH) Regulatory Elements for PDGFB Gene

Promoters and enhancers for PDGFB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J039232 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 621.7 +5.7 5725 12.6 HDGF ZNF652 SP1 ELF3 MNT CBFA2T2 ZNF148 MLLT1 CEBPG RERE PDGFB TAB1 CBX7 DDX17 TNRC6B CSNK1E ENSG00000230912 FUNDC2P4 CBY1 ATF4
GH22J039245 Enhancer 0.8 dbSUPER 606.2 -1.8 -1813 2.1 CBFA2T2 ZNF121 TRIM24 SMARCA4 ATF1 PKNOX1 HDAC1 NR2C1 EP300 SOX6 PDGFB GC22M042947 KCNJ4 ENSG00000284633 GC22M043916
GH22J039289 Promoter/Enhancer 1.9 VISTA Ensembl ENCODE dbSUPER 16.6 -47.4 -47441 5.8 ZFX ELF3 ZKSCAN8 AHR NCOA3 TFE3 SP7 SP1 SP5 ZNF644 ENSG00000224794 PDGFB SYNGR1 RPL3 ENSG00000228274 GC22M043916
GH22J039170 Enhancer 1.6 FANTOM5 ENCODE dbSUPER 14.3 +69.5 69512 9.7 ZFX SP1 CC2D1A CTCF ELF3 ZKSCAN8 ZNF148 ZNF121 CEBPG RERE PDGFB APOBEC3G SUN2 ENSG00000273076 TOMM22 ATF4 APOBEC3D JOSD1 GTPBP1 APOBEC3H
GH22J039204 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +38.0 38035 4 PRDM1 SMARCA4 IKZF1 ARID2 PRDM10 ZSCAN4 ZNF341 SMARCC1 MNT JUN CBX7 FUNDC2P4 PDGFB APOBEC3B-AS1 RPL3 MGAT3 GC22M043881 ENSG00000284633
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDGFB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PDGFB gene promoter:
  • NF-1
  • SRF
  • SRF (504 AA)

Genomic Locations for PDGFB Gene

Genomic Locations for PDGFB Gene
chr22:39,223,359-39,244,952
(GRCh38/hg38)
Size:
21,594 bases
Orientation:
Minus strand
chr22:39,619,364-39,640,957
(GRCh37/hg19)
Size:
21,594 bases
Orientation:
Minus strand

Genomic View for PDGFB Gene

Genes around PDGFB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDGFB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDGFB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDGFB Gene

Proteins for PDGFB Gene

  • Protein details for PDGFB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01127-PDGFB_HUMAN
    Recommended name:
    Platelet-derived growth factor subunit B
    Protein Accession:
    P01127
    Secondary Accessions:
    • G3XAG8
    • P78431
    • Q15354
    • Q6FHE7
    • Q9UF23

    Protein attributes for PDGFB Gene

    Size:
    241 amino acids
    Molecular mass:
    27283 Da
    Quaternary structure:
    • Homodimer; antiparallel disulfide-linked dimer. Heterodimer with PDGFA; antiparallel disulfide-linked dimer. The PDGFB homodimer interacts with PDGFRA and PDGFRB homodimers, and with heterodimers formed by PDGFRA and PDGFRB. The heterodimer composed of PDGFA and PDGFB interacts with PDGFRB homodimers, and with heterodimers formed by PDGFRA and PDGFRB. Interacts with XLKD1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PDGFB Gene

    Alternative splice isoforms for PDGFB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDGFB Gene

Post-translational modifications for PDGFB Gene

  • Glycosylation at posLast=6363 and isoforms=2190
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PDGFB_HUMAN (754)

Other Protein References for PDGFB Gene

No data available for DME Specific Peptides for PDGFB Gene

Domains & Families for PDGFB Gene

Gene Families for PDGFB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for PDGFB Gene

GenScript: Design optimal peptide antigens:
  • Platelet-derived growth factor 2 (P78450_HUMAN)
  • Proto-oncogene c-Sis (PDGFB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01127

UniProtKB/Swiss-Prot:

PDGFB_HUMAN :
  • Belongs to the PDGF/VEGF growth factor family.
Family:
  • Belongs to the PDGF/VEGF growth factor family.
genes like me logo Genes that share domains with PDGFB: view

Function for PDGFB Gene

Molecular function for PDGFB Gene

UniProtKB/Swiss-Prot 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 proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity).
GENATLAS Biochemistry:
platelet-derived growth factor,beta polypeptide,27.3kDa,(simian sarcoma viral (v-sis) oncogene homolog),potent mitogen for cells of mesenchymal origin,also involved in transformation process

Phenotypes From GWAS Catalog for PDGFB Gene

Gene Ontology (GO) - Molecular Function for PDGFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005161 platelet-derived growth factor receptor binding NAS,IBA 1661670
GO:0005515 protein binding IPI 2536956
GO:0005518 collagen binding IDA 8900172
GO:0008083 growth factor activity IDA,IEA 12070119
GO:0016176 superoxide-generating NADPH oxidase activator activity IDA 17942966
genes like me logo Genes that share ontologies with PDGFB: view
genes like me logo Genes that share phenotypes with PDGFB: view

Human Phenotype Ontology for PDGFB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDGFB Gene

MGI Knock Outs for PDGFB:

Animal Model Products

CRISPR Products

miRNA for PDGFB Gene

miRTarBase miRNAs that target PDGFB

Clone Products

  • Addgene plasmids for PDGFB
  • Applied Biological Materials (abm): Clones for PDGFB - Now 50% OFF >
  • * PDGFB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PDGFB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Cell Line Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PDGFB Gene

Localization for PDGFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDGFB Gene

Secreted. Note=Released by platelets upon wounding.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDGFB gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 2
nucleus 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDGFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm ISS --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with PDGFB: view

Pathways & Interactions for PDGFB Gene

PathCards logo

SuperPathways for PDGFB Gene

SuperPathway Contained pathways
1 RET signaling
2 Apoptotic Pathways in Synovial Fibroblasts
3 PI3K/AKT activation
4 GPCR Pathway
5 ERK Signaling
genes like me logo Genes that share pathways with PDGFB: view

SIGNOR curated interactions for PDGFB Gene

Activates:

Gene Ontology (GO) - Biological Process for PDGFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001892 embryonic placenta development ISS --
GO:0001938 positive regulation of endothelial cell proliferation IDA 9685360
GO:0002548 monocyte chemotaxis IDA 17991872
GO:0002576 platelet degranulation TAS --
genes like me logo Genes that share ontologies with PDGFB: view

Drugs & Compounds for PDGFB Gene

(26) Drugs for PDGFB Gene - From: DrugBank, ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Axitinib Approved, Investigational Pharma Inhibition, inhibitor Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 128
Sunitinib Approved, Investigational Pharma inhibitor VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Potent VEGFR, PDGFRbeta and KIT inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 538
Pegpleranib Investigational Pharma Target 0
Nintedanib (BIBF 1120) Pharma VEGFR/PDGFR/FGFR inhibitor 0
ADENOVIRAL PDGF B Pharma 0

(16) Additional Compounds for PDGFB Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SU 6668
252916-29-3

(3) Tocris Compounds for PDGFB Gene

Compound Action Cas Number
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta 1123491-15-5
SU 6668 PDGFR, VEGFR and FGFR inhibitor 252916-29-3
Toceranib Potent PDGFR and VEGFR inhibitor 356068-94-5

(1) ApexBio Compounds for PDGFB Gene

Compound Action Cas Number
Nintedanib (BIBF 1120) VEGFR/PDGFR/FGFR inhibitor 928326-83-4
genes like me logo Genes that share compounds with PDGFB: view

Transcripts for PDGFB Gene

mRNA/cDNA for PDGFB Gene

Unigene Clusters for PDGFB Gene

Platelet-derived growth factor beta polypeptide:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for PDGFB
  • Applied Biological Materials (abm): Clones for PDGFB - Now 50% OFF >
  • * PDGFB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PDGFB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for PDGFB Gene

No ASD Table

Relevant External Links for PDGFB Gene

GeneLoc Exon Structure for
PDGFB
ECgene alternative splicing isoforms for
PDGFB

Expression for PDGFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDGFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDGFB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.8), Heart (18.6), and Platelet (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PDGFB Gene



Protein tissue co-expression partners for PDGFB Gene

NURSA nuclear receptor signaling pathways regulating expression of PDGFB Gene:

PDGFB

SOURCE GeneReport for Unigene cluster for PDGFB Gene:

Hs.1976

mRNA Expression by UniProt/SwissProt for PDGFB Gene:

P01127-PDGFB_HUMAN
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.

Evidence on tissue expression from TISSUES for PDGFB Gene

  • Lung(4.5)
  • Nervous system(4.5)
  • Pancreas(4.3)
  • Muscle(2.9)
  • Heart(2.7)
  • Blood(2.5)
  • Kidney(2.5)
  • Eye(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDGFB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • meninges
  • mouth
  • skull
  • tongue
Thorax:
  • diaphragm
  • lung
Abdomen:
  • liver
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PDGFB: view

No data available for mRNA differential expression in normal tissues for PDGFB Gene

Orthologs for PDGFB Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDGFB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDGFB 35 34
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDGFB 35 34
  • 91.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDGFB 35 34
  • 88.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pdgfb 17 35 34
  • 86.31 (n)
rat
(Rattus norvegicus)
Mammalia Pdgfb 34
  • 85.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PDGFB 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDGFB 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDGFB 35 34
  • 65.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDGFB 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdgfb 34
  • 52.78 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796490 34
  • 50.47 (n)
PDGFB (1 of 3) 35
  • 17 (a)
OneToMany
pdgfb 35
  • 15 (a)
OneToMany
PDGFB (2 of 3) 35
  • 15 (a)
OneToMany
Species where no ortholog for PDGFB was found in the sources mined by GeneCards:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PDGFB Gene

ENSEMBL:
Gene Tree for PDGFB (if available)
TreeFam:
Gene Tree for PDGFB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDGFB: view image

Paralogs for PDGFB Gene

Paralogs for PDGFB Gene

(1) SIMAP similar genes for PDGFB Gene using alignment to 4 proteins:

  • PDGFB_HUMAN
  • A9UJN9_HUMAN
  • A9UJP0_HUMAN
  • P78450_HUMAN
genes like me logo Genes that share paralogs with PDGFB: view

Variants for PDGFB Gene

Sequence variations from dbSNP and Humsavar for PDGFB Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs114786489 benign, Dermatofibrosarcoma protuberans 39,225,814(-) G/A/C coding_sequence_variant, missense_variant
rs146468845 uncertain-significance, Dermatofibrosarcoma protuberans 39,225,779(-) G/A/C coding_sequence_variant, missense_variant
rs17303681 benign, Dermatofibrosarcoma protuberans 39,235,763(-) G/A/T intron_variant
rs397515631 pathogenic, Idiopathic basal ganglia calcification 5 39,231,645(-) G/A coding_sequence_variant, stop_gained
rs397515632 pathogenic, Idiopathic basal ganglia calcification 5, Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483] 39,231,722(-) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for PDGFB Gene

Variant ID Type Subtype PubMed ID
esv2724248 CNV deletion 23290073
esv3647761 CNV gain 21293372
nsv1160762 CNV deletion 26073780
nsv834198 CNV loss 17160897

Variation tolerance for PDGFB Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDGFB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDGFB
Human Gene Mutation Database (HGMD)
PDGFB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDGFB Gene

Disorders for PDGFB Gene

MalaCards: The human disease database

(49) MalaCards diseases for PDGFB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PDGFB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PDGFB_HUMAN
  • Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483]: 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:23913003, ECO:0000269 PubMed:26599395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving PDGFB is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGFB. {ECO:0000269 PubMed:12660034}.

Additional Disease Information for PDGFB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDGFB: view

No data available for Genatlas for PDGFB Gene

Publications for PDGFB Gene

  1. Two PDGF-B chain residues, arginine 27 and isoleucine 30, mediate receptor binding and activation. (PMID: 1661670) Clements JM … Green DR (The EMBO journal 1991) 2 3 4 58
  2. Nucleotide sequence of transforming human c-sis cDNA clones with homology to platelet-derived growth factor. (PMID: 2991848) Ratner L … Wong-Staal F (Nucleic acids research 1985) 2 3 4 58
  3. Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification. (PMID: 26599395) Vanlandewijck M … Betsholtz C (PloS one 2015) 3 4 58
  4. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. (PMID: 23913003) Keller A … Oliveira JR (Nature genetics 2013) 3 4 58
  5. Co-expression of PDGF-B and VEGFR-3 strongly correlates with lymph node metastasis and poor survival in non-small-cell lung cancer. (PMID: 19628565) Donnem T … Bremnes RM (Annals of oncology : official journal of the European Society for Medical Oncology 2010) 3 23 58

Products for PDGFB Gene