Overview

Location [1]
Xq13.1
Protein [2]
Mediator of RNA polymerase II transcription subunit 12
Synonyms [1]
OKS, OHDOX, TNRC11, ARC240, FGS1, CAGH45, TRAP230, OPA1, MED12S, HOPA

Mediator complex subunit 12 (MED12) is a gene that encodes a protein that is a member of a CDK8 protein complex that binds to a component of the preinitiation complex that functions in protein assembly. The protein encoded by this gene functions in the regulation of transcription. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions and insertions are observed in cancers such as breast cancer, endometrial cancer, and lung cancer.

MED12 is altered in 2.84% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, prostate adenocarcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

MED12 GENIE Cases - Top Diseases

The most common alterations in MED12 are MED12 Mutation (2.39%), MED12 Q2120_Q2121insPAAT (0.15%), MED12 Loss (0.09%), MED12 Amplification (0.05%), and MED12 L1224F (0.05%) [3].

MED12 GENIE Cases - Top Alterations

Significance of MED12 in Diseases

Melanoma +

Non-Small Cell Lung Carcinoma +

Lymphoma +

Colorectal Carcinoma +

Glioblastoma +

Bladder Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Ovarian Carcinoma +

Sarcoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

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.