Overview

Location [1]
11q12.2
Protein [2]
Succinate dehydrogenase assembly factor 2, mitochondrial
Synonyms [1]
SDH5, PGL2, C11orf79

Succinate dehydrogenase complex assembly factor 2 (SDHAF2) is a gene that encodes a mitochondrial protein. Missense mutations, synonymous mutations, and frameshift insertions have been observed in cancers such as colon cancer, kidney cancer, and skin cancer.

SDHAF2 is altered in 0.14% of all cancers with breast invasive ductal carcinoma, invasive breast carcinoma, and breast invasive lobular carcinoma having the greatest prevalence of alterations [3].

SDHAF2 GENIE Cases - Top Diseases

The most common alterations in SDHAF2 are SDHAF2 Amplification (0.13%) and SDHAF2 Loss (0.02%) [3].

SDHAF2 GENIE Cases - Top Alterations

Significance of SDHAF2 in Diseases

Gastrointestinal Stromal Tumor +

Malignant Solid Tumor +

Leiomyosarcoma +

Osteosarcoma +

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 6. 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.