Overview

Location [1]
10q25.2
Protein [2]
Structural maintenance of chromosomes protein 3
Synonyms [1]
BMH, CSPG6, BAM, CDLS3, HCAP, SMC3L1

Structural maintenance of chromosomes 3 (SMC3) is a gene that encodes a protein that has the ability to function as an intracellular, nuclear, or secreted protein. In its nuclear form, the protein functions in the adhesion of sister chromatids during mitosis. Missense mutations, nonsense mutations, silent mutations, frameshift deletions, and in-frame deletions are observed in cancers such as intestinal cancer, parathyroid cancer, and stomach cancer.

SMC3 is altered in 1.33% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and melanoma having the greatest prevalence of alterations [3].

SMC3 GENIE Cases - Top Diseases

The most common alterations in SMC3 are SMC3 Mutation (1.11%), SMC3 Loss (0.06%), SMC3 Fusion (0.05%), SMC3 N833S (0.04%), and SMC3 R805C (0.03%) [3].

SMC3 GENIE Cases - Top Alterations

Significance of SMC3 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

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.