PDGFB platelet derived growth factor subunit B

Gene ID: 5155, updated on 11-Apr-2024
Gene type: protein coding
Also known as: SIS; SSV; IBGC5; PDGF2; c-sis; PDGF-2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Basal ganglia calcification, idiopathic, 5 MedGen: C3809645OMIM: 615483GeneReviews: Primary Familial Brain Calcification	See labs
Dermatofibrosarcoma protuberans MedGen: C3693482OMIM: 607907GeneReviews: Not available	See labs
Familial meningioma MedGen: C3551915OMIM: 607174GeneReviews: MN1 C-Terminal Truncation Syndrome	See labs
Idiopathic basal ganglia calcification 1 MedGen: C4551624OMIM: 213600GeneReviews: Primary Familial Brain Calcification	See labs

Genomic context

Location:: 22q13.1

Sequence:: Chromosome: 22; NC_000022.11 (39223359..39244982, complement)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PDGFB variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
Coppola Lab - PFBC Variant Database
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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