Overview

Location [1]
10q24.32-q24.33
Protein [2]
Cytosolic purine 5'-nucleotidase
Synonyms [1]
SPG45, PNT5, cN-II, NT5B, GMP, SPG65

5'-nucleotidase, cytosolic II (NT5C2) is a gene that encodes a hydrolase protein that functions in purine metabolism by acting on inosine 5'-monophosphate and other purine nucleotides. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame insertions are observed in cancers such as intestinal cancer, stomach cancer, and urinary tract cancer.

NT5C2 is altered in 0.92% of all cancers with colon adenocarcinoma, lung adenocarcinoma, diffuse large B-cell lymphoma, not otherwise specified, melanoma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

NT5C2 GENIE Cases - Top Diseases

The most common alterations in NT5C2 are NT5C2 Loss (0.18%), NT5C2 E559_E560del (0.06%), NT5C2 Fusion (0.04%), NT5C2 M19I (0.05%), and NT5C2 R367Q (0.04%) [3].

NT5C2 GENIE Cases - Top Alterations

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.