Overview

Location [1]
19q13.32
Synonyms [1]
XPD, TTD1, TFIIH, COFS2, TTD, EM9

Excision repair cross-complementation group 2 (ERCC2) is a gene that encodes a protein that functions in the nucleotide excision repair pathway. Missense mutations and silent mutations are observed in cancers such as colon cancer, stomach cancer, and ovarian cancer.

Significance of ERCC2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Endometrial Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bladder Urothelial Carcinoma +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Penile Carcinoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Urothelial Carcinoma +

Vaginal Carcinoma +

Vulvar 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 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.