Overview

Location [1]
3p21.31
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Histone-lysine N-methyltransferase SETD2
Synonyms [1]
HIF-1, KMT3A, LLS, HYPB, HBP231, SET2, HIP-1, p231HBP, HSPC069

SET domain containing 2 (SETD2) is a gene that encodes a protein that is a member of a class of huntingtin interacting proteins. The protein functions as a histone methyltransferase specific for lysine-36 of histone H3. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and kidney cancer.

SETD2 is altered in 4.03% of all cancers with lung adenocarcinoma, clear cell renal cell carcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

SETD2 GENIE Cases - Top Diseases

The most common alterations in SETD2 are SETD2 Mutation (4.87%), SETD2 Loss (0.06%), SETD2 R1407Gfs*5 (0.03%), SETD2 N1396Mfs*16 (0.03%), and SETD2 D2064Pfs*8 (0.03%) [3].

SETD2 GENIE Cases - Top Alterations

Significance of SETD2 in Diseases

Malignant Solid Tumor +

Clear Cell Renal Cell Carcinoma +

Melanoma +

Glioblastoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Anaplastic Astrocytoma +

Lymphoma +

Sarcoma +

Ovarian Carcinoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Head And Neck Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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.