PDGFRB Chromosome 5
Platelet derived growth factor receptor beta
Upload your DNA to see your personal genotypes for variants in PDGFRB.
What This Gene Does
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 monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|I-set domain containing"
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000113721
Associated Conditions (20)
Infantile myofibromatosis
Inborn genetic diseases
Hydrocephalus
Myofibromatosis
infantile
1
Dandy-Walker syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Basal ganglia calcification
idiopathic
4
Cerebral palsy
6 conditions
Intellectual disability
PDGFRB-related disorder
Myeloproliferative disorder
chronic
with eosinophilia
See cases
Key Variants
RS1060499542
Conflicting classifications of pathogenicity
Infantile myofibromatosis, Inborn genetic diseases, Hydrocephalus
Health Risk
RS1162681591
Conflicting classifications of pathogenicity
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome, Basal ganglia calcification
Health Risk
RS138008832
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 4
Health Risk
RS138830253
Conflicting classifications of pathogenicity
6 conditions, Basal ganglia calcification, idiopathic
Health Risk
RS140261309
Conflicting classifications of pathogenicity
Acroosteolysis-keloid-like lesions-premature aging syndrome, Infantile myofibromatosis, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Health Risk
RS142689325
Conflicting classifications of pathogenicity
Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Basal ganglia calcification
Health Risk
RS144923639
Conflicting classifications of pathogenicity
PDGFRB-related disorder, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
Health Risk
RS146614144
Conflicting classifications of pathogenicity
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Infantile myofibromatosis, Acroosteolysis-keloid-like lesions-premature aging syndrome
Health Risk
RS147568171
Conflicting classifications of pathogenicity
Inborn genetic diseases, Basal ganglia calcification, idiopathic
Health Risk
RS147707126
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147952898
Conflicting classifications of pathogenicity
Inborn genetic diseases, Infantile myofibromatosis, Acroosteolysis-keloid-like lesions-premature aging syndrome
Health Risk
RS148183775
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 4
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1760272027 | Health Risk | Pathogenic | Infantile myofibromatosis, Infantile myofibromatosis |
| RS1760301005 | Health Risk | Pathogenic | Infantile myofibromatosis, Infantile myofibromatosis |
| RS1760406652 | Health Risk | Pathogenic | Infantile myofibromatosis, Infantile myofibromatosis |
| RS2113888986 | Health Risk | Pathogenic | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Basal ganglia calcification, idiopathic |
| RS367543286 | Health Risk | Pathogenic | Myofibromatosis, infantile, 1 |
| RS397509381 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 4 |
| RS863224946 | Health Risk | Pathogenic | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Myeloproliferative disorder, chronic |
| RS864309711 | Health Risk | Pathogenic | Myofibromatosis, infantile, 1 |
| RS2113894766 | Health Risk | Pathogenic/Likely pathogenic | Myeloproliferative disorder, chronic, with eosinophilia |
| RS2481203941 | Health Risk | Pathogenic/Likely pathogenic | Basal ganglia calcification, idiopathic, 4 |
| RS797044887 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Acroosteolysis-keloid-like lesions-premature aging syndrome, Basal ganglia calcification |