Overview

Location [1]
22q13.1
Synonyms [1]
SSV, c-sis, PDGF2, SIS, IBGC5, PDGF-2

Platelet-derived growth factor beta polypeptide (PDGFB) is a gene that encodes a protein that functions as a mitogenic factor for cells of mesenchymal origin. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

Significance of PDGFB in Diseases

Diffuse Intrinsic Pontine Glioma +

Malignant Glioma +

Malignant Solid Tumor +

Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

WHO Grade II Glioma +

WHO Grade III Glioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.