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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 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
  • Platelet-Derived Growth Factor Subunit B 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
  • GC22M039855
  • GC22M039970
  • GC22M040662
  • GC22M041111

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]

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 Response to elevated platelet cytosolic Ca2+ and RET signaling. 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDGFB Gene

Genomics for PDGFB Gene

Regulatory Elements for PDGFB Gene

Enhancers for PDGFB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H039232 2 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +5.8 5821 12 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 TAB1 CBX7 DDX17 PDGFB CSNK1E ENSG00000230912 FUNDC2P4 CBY1 TNRC6B ATF4
GH22H039289 1.8 VISTA Ensembl ENCODE dbSUPER 16.6 -47.4 -47441 5 FOXA2 ARID4B DMAP1 YY1 SLC30A9 FOS SP3 SP5 MXD4 NFYC PDGFB SYNGR1 RPL3 ENSG00000228274 ENSG00000224794 GC22M042216
GH22H039170 2 FANTOM5 Ensembl ENCODE dbSUPER 14.3 +69.5 69512 9 HDGF FOXA2 MLX ARID4B FEZF1 DMAP1 ZNF2 SLC30A9 ZNF143 FOS PDGFB APOBEC3G SUN2 ENSG00000273076 TOMM22 ATF4 APOBEC3D JOSD1 GTPBP1 APOBEC3H
GH22H039204 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +38.0 38035 4 PKNOX1 ZSCAN4 KLF17 BATF RARA EGR1 ZNF366 FOS RUNX3 EGR2 CBX7 FUNDC2P4 PDGFB APOBEC3B-AS1 RPL3 MGAT3 GC22M042187 ENSG00000284633
GH22H039212 1.3 Ensembl ENCODE dbSUPER 12.5 +30.6 30601 4 CTCF PKNOX1 JUN RAD21 RARA TEAD3 FOSL1 ZNF121 POLR2A SMC3 FUNDC2P4 CBX7 PDGFB APOBEC3B-AS1 RPL3 ENSG00000284633 GC22M042187
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDGFB on UCSC Golden Path with GeneCards custom track

Promoters for PDGFB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146304 1452 3001 ZFP64 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 GLIS2 ZNF416 KLF7

Genomic Location for PDGFB Gene

Chromosome:
22
Start:
39,223,359 bp from pter
End:
39,244,952 bp from pter
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 Thr190
  • Modification sites at PhosphoSitePlus

Other Protein References for PDGFB Gene

Antibody Products

Assay Products

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

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

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
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).

Phenotypes From GWAS Catalog for PDGFB Gene

Gene Ontology (GO) - Molecular Function for PDGFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005161 platelet-derived growth factor receptor binding NAS 1661670
GO:0005515 protein binding IPI 2536956
GO:0005518 collagen binding IDA 8900172
GO:0008083 growth factor activity IEA,IDA 12070119
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PDGFB
  • Applied Biological Materials Clones for PDGFB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
plasma membrane 5
extracellular 5
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 --
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

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

(27) Drugs for PDGFB Gene - From: 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, Potent VEGFR-1, -2 and -3 inhibitor 113
Sunitinib Approved, Investigational Pharma inhibitor VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 514
Nintedanib (BIBF 1120) Pharma VEGFR/PDGFR/FGFR inhibitor 0
ADENOVIRAL PDGF B Pharma 0
DMPQ dihydrochloride Pharma Potent, selective inhibitor of PDGFRbeta 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AC 710
1351522-04-7
SU 6668
252916-29-3

(5) Tocris Compounds for PDGFB Gene

Compound Action Cas Number
AC 710 Potent and selective PDGFR family inhibitor 1351522-04-7
DMPQ dihydrochloride Potent, selective inhibitor of PDGFRbeta 1123491-15-5
SU 16f Potent and selective PDGFRbeta inhibitor 251356-45-3
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

Drug Products

Transcripts for PDGFB Gene

Unigene Clusters for PDGFB Gene

Platelet-derived growth factor beta polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PDGFB
  • Applied Biological Materials Clones for PDGFB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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
Organs:
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

Primer Products

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 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia PDGFB 33 34
  • 91.42 (n)
cow
(Bos Taurus)
Mammalia PDGFB 33 34
  • 88.75 (n)
mouse
(Mus musculus)
Mammalia Pdgfb 33 16 34
  • 86.31 (n)
rat
(Rattus norvegicus)
Mammalia Pdgfb 33
  • 85.48 (n)
oppossum
(Monodelphis domestica)
Mammalia PDGFB 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDGFB 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDGFB 33 34
  • 65.67 (n)
lizard
(Anolis carolinensis)
Reptilia PDGFB 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdgfb 33
  • 52.78 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796490 33
  • 50.47 (n)
PDGFB (1 of 3) 34
  • 17 (a)
OneToMany
pdgfb 34
  • 15 (a)
OneToMany
PDGFB (2 of 3) 34
  • 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)

Paralogs for PDGFB Gene

Paralogs for PDGFB Gene

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

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 Sequence Context AA Info Type
rs397515632 Pathogenic, Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483] 39,231,722(-) CTTCC(C/T)GGTGT reference, missense
VAR_070870 Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483]
rs397515631 Pathogenic 39,231,645(-) CCACC(C/T)AGGTG reference, stop-gained
rs397515633 Pathogenic 39,231,633(-) AGCTG(C/T)GACCT reference, stop-gained
rs398122398 Pathogenic 39,225,723(-) GCCTA(C/G)GGGCA reference, stop-lost

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)

Relevant External Links for PDGFB Gene

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

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

Disorders for PDGFB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dermatofibrosarcoma protuberans
  • dfsp
basal ganglia calcification, idiopathic, 5
  • ibgc5
meningioma, familial
  • meningioma
primary familial brain calcification 5
  • basal ganglia calcification, idiopathic, 5
meningioma, radiation-induced
  • radiation induced meningioma
- 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}.

Relevant External Links for PDGFB

Genetic Association Database (GAD)
PDGFB
Human Genome Epidemiology (HuGE) Navigator
PDGFB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDGFB
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 60
  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 60
  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 60
  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 60
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60

Products for PDGFB Gene

  • Addgene plasmids for PDGFB

Sources for PDGFB Gene

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