Overview

Location [1]
11q23.1
Protein [2]
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Synonyms [1]
SDH4, CWS3, CII-4, PGL, cybS, PGL1, CBT1, QPs3

Succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD) is a gene that encodes a protein that functions as a component of the respiratory chain and is involved in the oxidation of succinate. The protein anchors the complex to the matrix side of the inner mitochondrial membrane. Missense mutations, nonsense mutations, silent mutations, and nonstop extensions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

SDHD is altered in 0.36% of all cancers with colon adenocarcinoma, lung adenocarcinoma, invasive breast carcinoma, prostate adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

SDHD GENIE Cases - Top Diseases

The most common alterations in SDHD are SDHD Mutation (0.25%), SDHD Loss (0.13%), SDHD Amplification (0.04%), SDHD L120S (0.02%), and SDHD R22Q (0.02%) [3].

SDHD GENIE Cases - Top Alterations

Significance of SDHD in Diseases

Gastrointestinal Stromal Tumor +

Renal Cell Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Clear Cell Renal Cell Carcinoma +

Hereditary Leiomyomatosis And Renal Cell Cancer +

Leiomyosarcoma +

Osteosarcoma +

Papillary Renal Cell Carcinoma +

Paraganglioma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

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.