Overview

Location [1]
12p13.32
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Fibroblast growth factor 23 C-terminal peptide
Synonyms [1]
ADHR, HFTC2, PHPTC, HPDR2, HYPF, FGFN

Fibroblast growth factor 23 (FGF23) is a gene that encodes a protein with mitogenic activity that functions in phosphate balance and transport in the kidney. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as esophageal cancer, intestinal cancer, and skin cancer.

FGF23 is altered in 1.36% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, lung adenocarcinoma, skin squamous cell carcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

FGF23 GENIE Cases - Top Diseases

The most common alterations in FGF23 are FGF23 Mutation (0.91%), FGF23 Amplification (1.89%), FGF23 P241S (0.12%), FGF23 R245H (0.15%), and FGF23 S207L (0.11%) [3].

FGF23 GENIE Cases - Top Alterations

Significance of FGF23 in Diseases

Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Malignant Solid Tumor +

Cancer +

Cholangiocarcinoma +

Gastric Carcinoma +

Multiple Myeloma +

Myeloproliferative Neoplasm +

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.