Ercc2 (ERCC excision repair 2, TFIIH core complex helicase subunit) - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Ercc2 (ERCC excision repair 2, TFIIH core complex helicase subunit) Rattus norvegicus
Symbol: Ercc2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
RGD ID: 1309109
Description: Predicted to enable 5'-3' DNA helicase activity and protein-macromolecule adaptor activity. Involved in embryonic organ development and response to hypoxia. Part of transcription factor TFIIH core complex. Biomarker of asphyxia neonatorum. Human ortholog(s) of this gene implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; carcinoma (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Orthologous to human ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit); PARTICIPATES IN altered nucleotide excision repair pathway; nucleotide excision repair pathway; RNA polymerase II transcription initiation pathway; INTERACTS WITH 4,4'-sulfonyldiphenol; aflatoxin B1; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; general transcription and DNA repair factor IIH helicase subunit XPD; LOC308415; rCG54110-like; TFIIH basal transcription factor complex helicase XPD subunit
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.2179,033,342 - 79,047,102 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,033,326 - 79,047,102 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx184,422,245 - 84,435,989 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0192,980,126 - 92,993,870 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0186,177,345 - 86,191,089 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0180,293,574 - 80,307,334 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,293,566 - 80,307,344 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,559,883 - 81,573,643 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera173,495,273 - 73,509,033 (+)NCBICelera
Cytogenetic Map1q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acoustic neuroma  (ISO)
acquired immunodeficiency syndrome  (ISO)
acute leukemia  (ISO)
acute lymphoblastic leukemia  (ISO)
acute myeloid leukemia  (ISO)
Agenesis of Corpus Callosum  (ISO)
Alzheimer's disease  (ISO)
Anthracycline-induced Cardiotoxicity  (ISO)
asphyxia neonatorum  (IEP)
autosomal recessive congenital ichthyosis  (ISO)
B-Cell Chronic Lymphocytic Leukemia  (ISO)
bone osteosarcoma  (ISO)
breast cancer  (ISO)
Breast Neoplasms  (ISO)
cataract  (ISO)
cerebrooculofacioskeletal syndrome 1  (ISO)
cerebrooculofacioskeletal syndrome 2  (ISO)
Chromosome Aberrations  (ISO)
chronic myeloid leukemia  (ISO)
Cockayne syndrome  (ISO)
colorectal cancer  (ISO)
Colorectal Neoplasms  (ISO)
Congenital Ichthyosis with Trichothiodystrophy  (ISO)
coronary artery disease  (ISO)
Down syndrome  (ISO)
Drug-induced Neutropenia  (ISO)
Drug-Related Side Effects and Adverse Reactions  (ISO)
Endometrial Neoplasms  (ISO)
epidermolytic hyperkeratosis  (ISO)
Gallbladder Neoplasms  (ISO)
genetic disease  (ISO)
Head and Neck Neoplasms  (ISO)
hepatoblastoma  (ISO)
hepatocellular carcinoma  (ISO)
high grade glioma  (ISO)
hypotrichosis 1  (ISO)
Lung Neoplasms  (ISO)
lung non-small cell carcinoma  (ISO)
macular degeneration  (ISO)
melanoma  (ISO)
metachromatic leukodystrophy  (ISO)
Mouth Neoplasms  (ISO)
multiple myeloma  (ISO)
myelodysplastic syndrome  (ISO)
myelofibrosis  (ISO)
Occupational Diseases  (ISO)
oral mucosa leukoplakia  (ISO)
ovarian cancer  (ISO)
Ovarian Neoplasms  (ISO)
ovary epithelial cancer  (ISO)
pancreatic cancer  (ISO)
photosensitive trichothiodystrophy  (ISO,ISS)
photosensitive trichothiodystrophy 1  (ISO)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
senile cataract  (ISO)
Skin Abnormalities  (ISO)
skin disease  (ISO)
Skin Neoplasms  (ISO)
squamous cell carcinoma  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
Sunburn  (ISO)
trichothiodystrophy  (ISO)
urinary bladder cancer  (ISO)
xeroderma pigmentosum  (ISO)
xeroderma pigmentosum group D  (ISO,ISS)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View

References - curated
# Reference Title Reference Citation
1. DNA repair polymorphisms in B-cell chronic lymphocytic leukemia in sufferers of Chernobyl Nuclear Power Plant accident. Abramenko I, etal., J Radiat Res. 2012;53(3):497-503.
2. Investigation of DNA repair gene variants on myelodysplastic syndromes in a Turkish population. Aktuglu MB, etal., Med Oncol. 2014 Oct;31(10):174. doi: 10.1007/s12032-014-0174-6. Epub 2014 Aug 26.
3. Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapy. Allan JM, etal., Blood. 2004 Dec 15;104(13):3872-7. Epub 2004 Aug 31.
4. RRM1, RRM2 and ERCC2 Gene Polymorphisms in Coronary Artery Disease. Altinkilic EM, etal., In Vivo. 2016 09-10;30(5):611-5.
5. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Andressoo JO, etal., Cancer Cell. 2006 Aug;10(2):121-32.
6. Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Banerjee M, etal., Carcinogenesis. 2007 Mar;28(3):672-6. Epub 2006 Oct 17.
7. Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemia. Banescu C, etal., Biomed Res Int. 2014;2014:213790. doi: 10.1155/2014/213790. Epub 2014 May 15.
8. DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. Batar B, etal., Leuk Res. 2009 Jun;33(6):759-63. doi: 10.1016/j.leukres.2008.11.005. Epub 2008 Dec 19.
9. Association of XPD polymorphisms with prostate cancer in Taiwanese patients. Bau DT, etal., Anticancer Res. 2007 Jul-Aug;27(4C):2893-6.
10. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
11. Associations between ERCC2 polymorphisms and gliomas. Caggana M, etal., Cancer Epidemiol Biomarkers Prev. 2001 Apr;10(4):355-60.
12. Phase II studies of gemcitabine and cisplatin in heavily and minimally pretreated metastatic breast cancer. Chew HK, etal., J Clin Oncol. 2009 May 1;27(13):2163-9. doi: 10.1200/JCO.2008.17.4839. Epub 2009 Mar 23.
13. mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the rat. Chiappe-Gutierrez M, etal., Life Sci. 1998;63(13):1157-67.
14. Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemia. Chokkalingam AP, etal., Cancer Causes Control. 2011 Dec;22(12):1721-30. doi: 10.1007/s10552-011-9848-y. Epub 2011 Oct 11.
15. DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients. Cifci S, etal., Hematology. 2011 Nov;16(6):361-7. doi: 10.1179/102453311X13127324303399.
16. TFIIH: when transcription met DNA repair. Compe E and Egly JM, Nat Rev Mol Cell Biol. 2012 May 10;13(6):343-54. doi: 10.1038/nrm3350.
17. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. de Boer J, etal., Cancer Res. 1999 Jul 15;59(14):3489-94.
18. Phase 1a/1b and pharmacogenetic study of docetaxel, oxaliplatin and capecitabine in patients with advanced cancer of the stomach or the gastroesophageal junction. Deenen MJ, etal., Cancer Chemother Pharmacol. 2015 Dec;76(6):1285-95. doi: 10.1007/s00280-015-2872-y. Epub 2015 Oct 23.
19. Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population. Douzi K, etal., Leuk Lymphoma. 2015 Jun;56(6):1856-62. doi: 10.3109/10428194.2014.974045. Epub 2014 Nov 14.
20. A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor. Egly JM and Coin F, DNA Repair (Amst). 2011 Jul 15;10(7):714-21. doi: 10.1016/j.dnarep.2011.04.021. Epub 2011 May 17.
21. XPD gene polymorphisms and the effects of induction chemotherapy in cytogenetically normal de novo acute myeloid leukemia patients. El-Tokhy MA, etal., Hematology. 2014 Oct;19(7):397-403. doi: 10.1179/1607845413Y.0000000144. Epub 2013 Nov 28.
22. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Frederick GD, etal., Hum Mol Genet. 1994 Oct;3(10):1783-8.
23. DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia. Ganster C, etal., Genes Chromosomes Cancer. 2009 Sep;48(9):760-7. doi: 10.1002/gcc.20680.
24. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
25. Prognostic value of ERCC1, ERCC2, XRCC1, and TP53 single nucleotide polymorphisms in patients with early-stage non-small cell lung cancer. Geredeli C, etal., Tumour Biol. 2015 Jun;36(6):4279-85. doi: 10.1007/s13277-015-3066-2. Epub 2015 Jan 18.
26. Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians. Gharib AF, etal., Mol Vis. 2014 May 21;20:661-9. eCollection 2014.
27. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
28. Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration. Gorgun E, etal., Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4732-7. doi: 10.1167/iovs.09-4842. Epub 2010 Apr 7.
29. Changes in the expression of DNA double strand break repair genes in primordial follicles from immature and aged rats. Govindaraj V, etal., Reprod Biomed Online. 2015 Mar;30(3):303-10. doi: 10.1016/j.rbmo.2014.11.010. Epub 2014 Dec 4.
30. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Graham JM Jr, etal., Am J Hum Genet. 2001 Aug;69(2):291-300. Epub 2001 Jul 3.
31. XRCC1 and XPD polymorphisms and their relation to the clinical course in hepatocarcinoma patients. Guan Q, etal., Oncol Lett. 2017 Sep;14(3):2783-2788. doi: 10.3892/ol.2017.6522. Epub 2017 Jul 5.
32. Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down Syndrome and Alzheimer's disease. Hermon M, etal., Neurosci Lett. 1998 Jul 17;251(1):45-8.
33. A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera. Hernandez-Boluda JC, etal., Blood. 2012 May 31;119(22):5221-8. doi: 10.1182/blood-2012-02-411215. Epub 2012 Apr 11.
34. The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. Jiao L, etal., Cancer Lett. 2007 Jan 8;245(1-2):61-8. Epub 2006 Feb 3.
35. Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. Joshi D, etal., Ann Hematol. 2016 Jan;95(1):79-85.
36. ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Justenhoven C, etal., Cancer Epidemiol Biomarkers Prev. 2004 Dec;13(12):2059-64.
37. Nucleotide excision repair: new tricks with old bricks. Kamileri I, etal., Trends Genet. 2012 Nov;28(11):566-73. doi: 10.1016/j.tig.2012.06.004. Epub 2012 Jul 22.
38. Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. Khrunin AV, etal., Pharmacogenomics J. 2010 Feb;10(1):54-61. Epub 2009 Sep 29.
39. The Relationship Between Single-Nucleotide Polymorphisms, the Expression of DNA Damage Response Genes, and Hepatocellular Carcinoma in a Polish Population. Krupa R, etal., DNA Cell Biol. 2017 Aug;36(8):693-708. doi: 10.1089/dna.2017.3664. Epub 2017 Jun 9.
40. New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. Kunze S, etal., PLoS One. 2015 May 7;10(5):e0125304. doi: 10.1371/journal.pone.0125304. eCollection 2015.
41. Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials. Kuptsova N, etal., Blood. 2007 May 1;109(9):3936-44. Epub 2006 Dec 29.
42. XPD DNA nucleotide excision repair gene polymorphisms associated with DNA repair deficiency predict better treatment outcomes in secondary acute myeloid leukemia. Kuptsova-Clarkson N, etal., Int J Mol Epidemiol Genet. 2010;1(4):278-94. Epub 2010 Aug 10.
43. Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer. Lambrechts S, etal., BMC Pharmacol Toxicol. 2015 Feb 27;16:2. doi: 10.1186/s40360-015-0001-5.
44. Association of XPD/ERCC2 G23591A and A35931C polymorphisms with skin lesion prevalence in a multiethnic, arseniasis-hyperendemic village exposed to indoor combustion of high arsenic coal. Lin GF, etal., Arch Toxicol. 2010 Jan;84(1):17-24. doi: 10.1007/s00204-009-0474-3. Epub 2009 Oct 16.
45. Polymorphisms of multiple genes involved in NER pathway predict prognosis of gastric cancer. Liu J, etal., Oncotarget. 2016 Jul 26;7(30):48130-48142. doi: 10.18632/oncotarget.10173.
46. XPD codon 312 and 751 polymorphisms, and AFB1 exposure, and hepatocellular carcinoma risk. Long XD, etal., BMC Cancer. 2009 Nov 17;9:400. doi: 10.1186/1471-2407-9-400.
47. Prognostic Value of Excision Repair Cross-Complementing mRNA Expression in Gastric Cancer. Luo SS, etal., Biomed Res Int. 2018 Oct 17;2018:6204684. doi: 10.1155/2018/6204684. eCollection 2018.
48. Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese. Luo YF, etal., Curr Eye Res. 2011 Jul;36(7):632-6. doi: 10.3109/02713683.2011.571358. Epub 2011 May 20.
49. Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators. Majumder M, etal., Int J Cancer. 2007 May 15;120(10):2148-56.
50. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. McWilliams RR, etal., Cancer Res. 2008 Jun 15;68(12):4928-35. Epub 2008 Jun 10.
51. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
52. The R156R ERCC2 polymorphism as a risk factor of endometrial cancer. Michalska MM, etal., Tumour Biol. 2016 Feb;37(2):2171-6. doi: 10.1007/s13277-015-4040-8. Epub 2015 Sep 9.
53. A phase II trial of erlotinib in combination with gemcitabine and capecitabine in previously untreated metastatic/recurrent pancreatic cancer: combined analysis with translational research. Oh DY, etal., Invest New Drugs. 2012 Jun;30(3):1164-74. doi: 10.1007/s10637-011-9651-3. Epub 2011 Mar 15.
54. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
55. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
56. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
57. No association between the XPD Lys751Gln (rs13181) polymorphism and disease phenotype or leukemic transformation in primary myelofibrosis. Poletto V, etal., Haematologica. 2013 Aug;98(8):e83-4. doi: 10.3324/haematol.2013.086496. Epub 2013 May 28.
58. Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH. Qadri I, etal., Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10578-83.
59. DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. Rajaraman P, etal., Neuro Oncol. 2010 Jan;12(1):37-48. Epub 2009 Dec 10.
60. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
61. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
62. Comprehensive gene review and curation RGD comprehensive gene curation
63. Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer. Sakano S, etal., Pharmacogenomics. 2010 Oct;11(10):1377-87. doi: 10.2217/pgs.10.106.
64. ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. Schrama D, etal., J Invest Dermatol. 2011 Jun;131(6):1280-90. doi: 10.1038/jid.2011.35. Epub 2011 Mar 10.
65. Impact of ERCC2 gene polymorphism on HIV-1 disease progression to AIDS among North Indian HIV patients. Sobti RC, etal., Mol Biol Rep. 2011 Jun;38(5):2945-52. Epub 2010 Feb 2.
66. Single nucleotide polymorphisms of nucleotide excision repair pathway are significantly associated with outcomes of platinum-based chemotherapy in lung cancer. Song X, etal., Sci Rep. 2017 Sep 18;7(1):11785. doi: 10.1038/s41598-017-08257-7.
67. The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia. Sorour A, etal., Genet Test Mol Biomarkers. 2013 Mar;17(3):195-201. doi: 10.1089/gtmb.2012.0278. Epub 2013 Feb 11.
68. Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. Srivastava K, etal., PLoS One. 2011 Jan 21;6(1):e16449.
69. Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. Strom SS, etal., Leuk Lymphoma. 2010 Apr;51(4):598-605. doi: 10.3109/10428190903582804.
70. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. Takayama K, etal., Hum Mutat. 1997;9(6):519-25.
71. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models. van de Ven M, etal., DNA Repair (Amst). 2012 Nov 1;11(11):874-83. doi: 10.1016/j.dnarep.2012.08.003. Epub 2012 Oct 7.
72. Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation. Vangsted A, etal., Int J Cancer. 2007 Mar 1;120(5):1036-45. doi: 10.1002/ijc.22411.
73. Nucleotide excision repair gene expression in the rat conceptus during organogenesis. Vinson RK and Hales BF, Mutat Res. 2001 Jul 12;486(2):113-23.
74. Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus. Wan L, etal., Int J Immunogenet. 2009 Feb;36(1):33-7. Epub 2008 Nov 25.
75. Whole-exome sequencing of muscle-invasive bladder cancer identifies recurrent mutations of UNC5C and prognostic importance of DNA repair gene mutations on survival. Yap KL, etal., Clin Cancer Res. 2014 Dec 15;20(24):6605-17. doi: 10.1158/1078-0432.CCR-14-0257. Epub 2014 Oct 14.
76. A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population. Yin J, etal., Cancer Genet Cytogenet. 2007 May;175(1):47-51.
77. DNA repair pathway profiling and microsatellite instability in colorectal cancer. Yu J, etal., Clin Cancer Res. 2006 Sep 1;12(17):5104-11. doi: 10.1158/1078-0432.CCR-06-0547.
78. Increased expression of ERCC2 gene in head and neck cancer is associated with aggressive tumors: a systematic review and case-control study. Zafeer M, etal., Int J Biol Markers. 2016 Feb 28;31(1):e17-25. doi: 10.5301/jbm.5000186.
79. [Relation of polymorphisms of the XPD and GSTM1 genes with susceptibility to hepatocellular carcinoma in Qinghai Tibetans]. Zhao JH, etal., Zhonghua Gan Zang Bing Za Zhi. 2014 Nov;22(11):831-6. doi: 10.3760/cma.j.issn.1007-3418.2014.11.007.
80. Susceptibility of XPD and hOGG1 genetic variants to prostate cancer. Zhou C, etal., Biomed Rep. 2013 Jul;1(4):679-683. Epub 2013 May 30.
Additional References at PubMed
PMID:2835663   PMID:8652557   PMID:8663148   PMID:8675009   PMID:8692841   PMID:8692842   PMID:9426063   PMID:9651581   PMID:9852112   PMID:10801852   PMID:11335038   PMID:11445587  
PMID:11950998   PMID:17020410   PMID:17088560   PMID:17554309   PMID:17614221   PMID:17952069   PMID:18545656   PMID:20797633   PMID:23562818   PMID:23585563   PMID:27193682  


Comparative Map Data
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.2179,033,342 - 79,047,102 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,033,326 - 79,047,102 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx184,422,245 - 84,435,989 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0192,980,126 - 92,993,870 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0186,177,345 - 86,191,089 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0180,293,574 - 80,307,334 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,293,566 - 80,307,344 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,559,883 - 81,573,643 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera173,495,273 - 73,509,033 (+)NCBICelera
Cytogenetic Map1q21NCBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381945,349,837 - 45,370,573 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1945,349,837 - 45,370,918 (-)EnsemblGRCh38hg38GRCh38
GRCh371945,853,095 - 45,873,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,546,686 - 50,565,669 (-)NCBINCBI36Build 36hg18NCBI36
Build 341950,546,685 - 50,565,669NCBI
Celera1942,660,603 - 42,679,799 (-)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1942,287,494 - 42,306,749 (-)NCBIHuRef
CHM1_11945,857,950 - 45,877,144 (-)NCBICHM1_1
T2T-CHM13v2.01948,177,079 - 48,197,811 (-)NCBIT2T-CHM13v2.0
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39719,115,942 - 19,129,619 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl719,115,935 - 19,129,619 (+)EnsemblGRCm39 Ensembl
GRCm38719,382,017 - 19,395,694 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,382,010 - 19,395,694 (+)EnsemblGRCm38mm10GRCm38
MGSCv37719,967,388 - 19,981,041 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36718,540,561 - 18,554,214 (+)NCBIMGSCv36mm8
Celera716,788,799 - 16,802,456 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.62NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_0049555552,355,005 - 2,369,599 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,355,005 - 2,369,599 (-)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
NHGRI_mPanPan11953,384,314 - 53,403,414 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01942,298,927 - 42,319,816 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11950,897,004 - 50,915,849 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1950,897,004 - 50,915,819 (-)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.11110,173,781 - 110,191,612 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1110,173,715 - 110,190,125 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1109,658,382 - 109,676,142 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01110,706,731 - 110,724,500 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1110,706,592 - 110,724,497 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11110,382,350 - 110,400,108 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01110,016,506 - 110,034,248 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01110,886,053 - 110,903,819 (+)NCBIUU_Cfam_GSD_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440934917,467,848 - 17,482,342 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367061,816,571 - 1,829,692 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367061,816,561 - 1,829,638 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl651,734,320 - 51,757,553 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1651,734,318 - 51,757,508 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.1638,804,296 - 38,823,229 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl638,801,423 - 38,823,073 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607318,405,381 - 18,425,954 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_0046249072,250,133 - 2,263,947 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249072,249,323 - 2,263,999 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Ercc2
37 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:216
Count of miRNA genes:139
Interacting mature miRNAs:172
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1554320Bmd1Bone mineral density QTL 112.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)150910886060548Rat
631688Hcas2Hepatocarcinoma susceptibility QTL 230.0001liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)15925874115540829Rat
2313062Bmd73Bone mineral density QTL 733.90.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)11148131282174945Rat
2313065Bss67Bone structure and strength QTL 673.10.0001tibia area (VT:1000281)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
2313069Bss68Bone structure and strength QTL 682.90.0001tibia size trait (VT:0100001)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
2313075Bss66Bone structure and strength QTL 663.40.0001tibia length (VT:0004357)tibia length (CMO:0000450)11148131282174945Rat
2313077Bss69Bone structure and strength QTL 693.50.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)11148131282174945Rat
2313092Bmd72Bone mineral density QTL 722.50.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)11148131282174945Rat
2313097Bss70Bone structure and strength QTL 703.50.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
631495Bp96Blood pressure QTL 964.52arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)122340647102268831Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)130882023123479925Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132356093162846471Rat
1300172Bp172Blood pressure QTL 1723.56arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)13273727390665040Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132737458199368955Rat
8552900Pigfal1Plasma insulin-like growth factor 1 level QTL 17.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)13483685879836858Rat
8552948Pigfal11Plasma insulin-like growth factor 1 level QTL 114.7blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)13483685879836858Rat
9589820Insglur3Insulin/glucose ratio QTL 310.750.001blood insulin amount (VT:0001560)calculated plasma insulin level (CMO:0002170)13483685879836858Rat
2313051Bss57Bone structure and strength QTL 573.70.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)143284731118944897Rat
2313059Bss55Bone structure and strength QTL 553.20.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313072Bss53Bone structure and strength QTL 534.30.0001tibia length (VT:0004357)tibia length (CMO:0000450)143284731118944897Rat
2313078Bss54Bone structure and strength QTL 543.50.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313094Bss58Bone structure and strength QTL 583.70.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)143284731118944897Rat
2313098Bmd70Bone mineral density QTL 703.60.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)143284731118944897Rat
2313099Bss56Bone structure and strength QTL 562.40.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)143284731118944897Rat
2302059Pia36Pristane induced arthritis QTL 363.80.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G1 level (CMO:0002115)14333300288333002Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)148963584144267916Rat
4889962Bss94Bone structure and strength QTL 943.8tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)14936146582174945Rat
1578649Bmd8Bone mineral density QTL 84.9femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)14939317294393172Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
6903308Scl36Serum cholesterol QTL 3620.0125blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)15386304190532583Rat
4889919Bss86Bone structure and strength QTL 864.1tibia area (VT:1000281)tibia midshaft total cross-sectional area (CMO:0001715)15389511782174945Rat
4889929Bss87Bone structure and strength QTL 876.7tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)15389511782174945Rat
61342Bp27Blood pressure QTL 273.40.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)15673266898773277Rat
2300164Bmd44Bone mineral density QTL 445.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)156949932101949932Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)157336763151090257Rat
1300121Hrtrt1Heart rate QTL 13.7heart pumping trait (VT:2000009)heart rate (CMO:0000002)165789093115540829Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)166023617118608521Rat
631512Scl6Serum cholesterol level QTL 69.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)17219768090508767Rat
1358192Ept13Estrogen-induced pituitary tumorigenesis QTL 133.4pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)177494165122494165Rat
10054135Gmadr2Adrenal mass QTL 21.970.0129adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)177857876122857876Rat
1549903Bp267Blood pressure QTL 267arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)177876254106047988Rat
61344Bp29Blood pressure QTL 297.5arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)178350581123350581Rat
7411712Strs4Sensitivity to stroke QTL 48.7cerebrum integrity trait (VT:0010549)percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)178430536123430536Rat
61433Cia2Collagen induced arthritis QTL 25joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)17843075491209302Rat
1582234Gluco18Glucose level QTL 183.40.0003blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)178479925123479925Rat

Markers in Region
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2179,046,864 - 79,047,054 (+)MAPPERmRatBN7.2
Rnor_6.0180,307,097 - 80,307,286NCBIRnor6.0
Rnor_5.0181,573,406 - 81,573,595UniSTSRnor5.0
RGSC_v3.4178,912,982 - 78,913,171UniSTSRGSC3.4
Celera173,508,796 - 73,508,985UniSTS
Cytogenetic Map1q21UniSTS


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
Medium 3 24 22 16 12 16 66 28 40 10
Low 19 35 25 7 25 8 11 8 7 1 1 8
Below cutoff


RefSeq Acc Id: ENSRNOT00000024246   ⟹   ENSRNOP00000024247
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl179,033,326 - 79,047,099 (+)Ensembl
Rnor_6.0 Ensembl180,293,566 - 80,307,344 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000102512   ⟹   ENSRNOP00000084616
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl179,033,372 - 79,047,102 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000103852   ⟹   ENSRNOP00000092445
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl179,033,326 - 79,047,099 (+)Ensembl
RefSeq Acc Id: NM_001172809   ⟹   NP_001166280
RefSeq Status: VALIDATED
Rat AssemblyChrPosition (strand)Source
mRatBN7.2179,033,342 - 79,047,102 (+)NCBI
Rnor_6.0180,293,574 - 80,307,334 (+)NCBI
Rnor_5.0181,559,883 - 81,573,643 (+)NCBI
Celera173,495,273 - 73,509,033 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001166280 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein EDM08205 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000024247
RefSeq Acc Id: NP_001166280   ⟸   NM_001172809
- UniProtKB: D3ZEG9 (UniProtKB/TrEMBL),   A6J8M9 (UniProtKB/TrEMBL),   A0A8I6AH26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000024247   ⟸   ENSRNOT00000024246
RefSeq Acc Id: ENSRNOP00000092445   ⟸   ENSRNOT00000103852
RefSeq Acc Id: ENSRNOP00000084616   ⟸   ENSRNOT00000102512
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZEG9-F1-model_v2 AlphaFold D3ZEG9 1-760 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13689770
Promoter ID:EPDNEW_R294
Type:single initiation site
Description:ERCC excision repair 2, TFIIH core complex helicase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database,
Experiment Methods:Single-end sequencing.
Rat AssemblyChrPosition (strand)Source
Rnor_6.0180,293,569 - 80,293,629EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1309109 AgrOrtholog
BioCyc Gene G2FUF-60508 BioCyc
Ensembl Genes ENSRNOG00000017753 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000024246 ENTREZGENE
  ENSRNOT00000024246.8 UniProtKB/TrEMBL
  ENSRNOT00000102512.1 UniProtKB/TrEMBL
  ENSRNOT00000103852.1 UniProtKB/TrEMBL
InterPro DEAD_2 UniProtKB/TrEMBL
  DinG/Rad3-like UniProtKB/TrEMBL
  DNA/RNA_helicase_DEAH_CS UniProtKB/TrEMBL
  DNA_helicase_DNA-repair_Rad3 UniProtKB/TrEMBL
  DUF1227 UniProtKB/TrEMBL
  Helic_SF1/SF2_ATP-bd_DinG/Rad3 UniProtKB/TrEMBL
  Helicase-like_DEXD_c2 UniProtKB/TrEMBL
  Helicase_ATP-dep_c2 UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/TrEMBL
  XPGD_DNA_repair UniProtKB/TrEMBL
KEGG Report rno:308415 UniProtKB/TrEMBL
  PTHR11472:SF1 UniProtKB/TrEMBL
Pfam DEAD_2 UniProtKB/TrEMBL
  DUF1227 UniProtKB/TrEMBL
  Helicase_C_2 UniProtKB/TrEMBL
PhenoGen Ercc2 PhenoGen
RatGTEx ENSRNOG00000017753 RatGTEx
Superfamily-SCOP SSF52540 UniProtKB/TrEMBL
UniProt A0A8I6A002_RAT UniProtKB/TrEMBL

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-01 Ercc2  ERCC excision repair 2, TFIIH core complex helicase subunit  Ercc2  excision repair cross-complementation group 2  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2014-03-12 Ercc2  excision repair cross-complementation group 2  Ercc2  excision repair cross-complementing rodent repair deficiency, complementation group 2  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2013-05-24 Ercc2  excision repair cross-complementing rodent repair deficiency, complementation group 2  LOC100364929  rCG54110-like  Data merged from RGD:2320036 1643240 APPROVED
2010-05-05 LOC100364929  rCG54110-like      Symbol and Name status set to provisional 70820 PROVISIONAL
2008-04-30 Ercc2  excision repair cross-complementing rodent repair deficiency, complementation group 2   Ercc2_predicted  excision repair cross-complementing rodent repair deficiency, complementation group 2 (predicted)  'predicted' is removed 2292626 APPROVED
2005-01-12 Ercc2_predicted  excision repair cross-complementing rodent repair deficiency, complementation group 2 (predicted)      Symbol and Name status set to approved 70820 APPROVED