Ercc6 (excision repair cross-complementing rodent repair deficiency, complementation group 6) - Rat Genome Database

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Gene: Ercc6 (excision repair cross-complementing rodent repair deficiency, complementation group 6) Mus musculus
Analyze
Symbol: Ercc6
Name: excision repair cross-complementing rodent repair deficiency, complementation group 6
RGD ID: 1622854
MGI Page MGI
Description: Predicted to enable several functions, including ATP binding activity; ATP-dependent chromatin remodeler activity; and protein tyrosine kinase activator activity. Acts upstream of or within several processes, including DNA repair; intracellular signal transduction; and photoreceptor cell maintenance. Predicted to be located in nuclear body; nucleolus; and site of DNA damage. Predicted to be part of B-WICH complex and transcription elongation factor complex. Predicted to be active in nucleus. Is expressed in genitourinary system. Used to study Cockayne syndrome. Human ortholog(s) of this gene implicated in several diseases, including Cockayne syndrome (multiple); De Sanctis-Cacchione syndrome; UV-sensitive syndrome; gastrointestinal system cancer (multiple); and respiratory system cancer (multiple). Orthologous to human ERCC6 (ERCC excision repair 6, chromatin remodeling factor).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 4732403I04; ATP-dependent helicase ERCC6; C130058G22Rik; cockayne syndrome protein CSB; CS; CS group B correcting; CS group B correcting gene; CSB; DNA excision repair protein ERCC-6; excision repair 6; excision repair cross-complementing rodent repair deficiency, complementation group
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391432,235,248 - 32,302,947 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1432,235,478 - 32,302,947 (+)EnsemblGRCm39 Ensembl
GRCm381432,513,291 - 32,580,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1432,513,521 - 32,580,990 (+)EnsemblGRCm38mm10GRCm38
MGSCv371433,326,707 - 33,394,175 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361431,342,530 - 31,409,998 (+)NCBIMGSCv36mm8
Celera1428,771,098 - 28,837,767 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.4NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (EXP)
1,2-dimethylhydrazine  (EXP)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP,ISO)
3-aminobenzamide  (ISO)
3-hydroxybutyric acid  (EXP,ISO)
3-methylcholanthrene  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
acetyl-CoA  (ISO)
acrolein  (ISO)
adenosine 5'-monophosphate  (EXP)
aflatoxin B1  (ISO)
alpha-pinene  (ISO)
amphetamine  (ISO)
antirheumatic drug  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
ascaridole  (ISO)
ATP  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (ISO)
caffeine  (ISO)
cannabidiol  (ISO)
carbazoles  (ISO)
chlorpyrifos  (EXP)
choline  (EXP)
cisplatin  (EXP,ISO)
citric acid  (EXP)
copper(II) chloride  (ISO)
copper(II) sulfate  (ISO)
cypermethrin  (EXP)
diarsenic trioxide  (ISO)
Dibutyl phosphate  (ISO)
doxorubicin  (ISO)
flutamide  (ISO)
folic acid  (EXP)
formaldehyde  (ISO)
FR900359  (ISO)
genistein  (ISO)
glycidol  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hydrogen peroxide  (ISO)
Illudin S  (ISO)
irofulven  (ISO)
L-methionine  (EXP)
lovastatin  (ISO)
lutein  (EXP)
methoxychlor  (ISO)
methylisothiazolinone  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ribosylnicotinamide  (EXP)
NAD zwitterion  (EXP,ISO)
NAD(+)  (EXP,ISO)
nicotinamide  (ISO)
NMN zwitterion  (ISO)
NU 1025  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
potassium bromate  (ISO)
potassium dichromate  (EXP)
Pyridostigmine bromide  (ISO)
rac-lactic acid  (EXP,ISO)
resveratrol  (EXP)
rotenone  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
succinic acid  (EXP)
superoxide  (ISO)
titanium dioxide  (EXP)
triphenyl phosphate  (ISO)
urethane  (ISO)
valproic acid  (ISO)
veliparib  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
base-excision repair  (IEA,ISO)
chromatin remodeling  (NAS)
DNA damage checkpoint signaling  (ISO,ISS)
DNA damage response  (IMP)
DNA protection  (IEA,ISO)
DNA repair  (IGI,IMP,ISO)
double-strand break repair via classical nonhomologous end joining  (ISO,ISS)
intrinsic apoptotic signaling pathway in response to DNA damage  (IMP)
JNK cascade  (IMP)
multicellular organism growth  (IGI)
negative regulation of double-strand break repair via nonhomologous end joining  (ISO,ISS)
neurogenesis  (ISO,ISS)
neuron differentiation  (ISO,ISS)
neuron projection development  (ISO,ISS)
photoreceptor cell maintenance  (IMP)
positive regulation of defense response to virus by host  (ISO)
positive regulation of DNA repair  (ISO)
positive regulation of DNA-templated transcription, elongation  (IEA,ISO)
positive regulation of double-strand break repair via homologous recombination  (ISO,ISS)
positive regulation of gene expression  (ISO)
positive regulation of peptidyl-serine phosphorylation of STAT protein  (ISO)
positive regulation of transcription by RNA polymerase I  (NAS)
positive regulation of transcription by RNA polymerase II  (NAS)
positive regulation of transcription by RNA polymerase III  (ISO)
positive regulation of transcription initiation by RNA polymerase II  (IGI,IMP)
pyrimidine dimer repair  (IMP)
regulation of DNA-templated transcription elongation  (ISO)
regulation of transcription elongation by RNA polymerase II  (IEA,ISO)
response to gamma radiation  (IMP)
response to oxidative stress  (IMP,ISO)
response to superoxide  (IMP)
response to toxic substance  (IMP)
response to UV  (IMP)
response to UV-B  (IMP)
response to X-ray  (IMP)
single strand break repair  (ISO,ISS)
transcription elongation by RNA polymerase I  (IMP)
transcription-coupled nucleotide-excision repair  (IBA,IMP,ISO,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal abdominal fat pad morphology  (IAGP)
abnormal base-excision repair  (IAGP)
abnormal cell physiology  (IAGP)
abnormal cerebellar cortex morphology  (IAGP)
abnormal cerebellar Purkinje cell layer  (IAGP)
abnormal cerebellum development  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal dorsal striatum morphology  (IAGP)
abnormal epiphyseal plate morphology  (IAGP)
abnormal gait  (IAGP)
abnormal limb posture  (IAGP)
abnormal locomotor behavior  (IAGP)
abnormal myelin sheath morphology  (IAGP)
abnormal myelination  (IAGP)
abnormal neocortex morphology  (IAGP)
abnormal oligodendrocyte physiology  (IAGP)
abnormal Purkinje cell dendrite morphology  (IAGP)
abnormal Purkinje cell morphology  (IAGP)
abnormal retina inner nuclear layer morphology  (IAGP)
abnormal retina morphology  (IAGP)
abnormal retina outer nuclear layer morphology  (IAGP)
abnormal telencephalon morphology  (IAGP)
astrocytosis  (IAGP)
ataxia  (IAGP)
axon degeneration  (IAGP)
cachexia  (IAGP)
circling  (IAGP)
cochlear inner hair cell degeneration  (IAGP)
cochlear outer hair cell degeneration  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased brain weight  (IAGP)
decreased cerebellar granule cell precursor proliferation  (IAGP)
decreased distortion product otoacoustic emission amplitude  (IAGP)
degeneration of organ of Corti supporting cells  (IAGP)
Deiters cell degeneration  (IAGP)
dilated lateral ventricle  (IAGP)
disproportionate dwarf  (IAGP)
dystonia  (IAGP)
hepatic steatosis  (IAGP)
hippocampus atrophy  (IAGP)
hypoglycemia  (IAGP)
impaired balance  (IAGP)
impaired coordination  (IAGP)
impaired hearing  (IAGP)
increased cellular sensitivity to gamma-irradiation  (IAGP)
increased cellular sensitivity to ultraviolet irradiation  (IAGP)
increased incidence of induced tumors  (IAGP)
increased liver glycogen level  (IAGP)
increased or absent threshold for auditory brainstem response  (IAGP)
increased thigmotaxis  (IAGP)
kyphosis  (IAGP)
lethality at weaning, complete penetrance  (IAGP)
limb grasping  (IAGP)
lipodystrophy  (IAGP)
long limbs  (IAGP)
microgliosis  (IAGP)
neuron degeneration  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
photophobia  (IAGP)
photosensitivity  (IAGP)
pillar cell degeneration  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
premature aging  (IAGP)
premature death  (IAGP)
Purkinje cell degeneration  (IAGP)
reduced cerebellar foliation  (IAGP)
retina degeneration  (IAGP)
seizures  (IAGP)
short stride length  (IAGP)
skin photosensitivity  (IAGP)
slow postnatal weight gain  (IAGP)
small cerebellum  (IAGP)
thin cerebellar granule layer  (IAGP)
thin cerebellar molecular layer  (IAGP)
thin cerebral cortex  (IAGP)
tremors  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes. Abbasi R, etal., Int J Cancer. 2009 Sep 15;125(6):1431-9. doi: 10.1002/ijc.24442.
2. The ERCC6 gene and age-related macular degeneration. Baas DC, etal., PLoS One. 2010 Nov 1;5(11):e13786. doi: 10.1371/journal.pone.0013786.
3. Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk. Berndt SI, etal., Cancer Epidemiol Biomarkers Prev. 2006 Nov;15(11):2263-9. doi: 10.1158/1055-9965.EPI-06-0449.
4. Polymorphisms of cancer-related genes and risk of multipleprimary malignancies involving colorectal cancer Cao P, etal., Turk J Med Sci. 2017 Nov 13;47(5):1549-1554. doi: 10.3906/sag-1612-119.
5. Reduced expression levels of nucleotide excision repair genes in lung cancer: a case-control analysis. Cheng L, etal., Carcinogenesis. 2000 Aug;21(8):1527-30.
6. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Falik-Zaccai TC, etal., Am J Med Genet A. 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309.
7. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Fousteri M and Mullenders LH, Cell Res. 2008 Jan;18(1):73-84. doi: 10.1038/cr.2008.6.
8. ERCC6 founder mutation identified in Finnish patients with COFS syndrome. Jaakkola E, etal., Clin Genet. 2010 Dec;78(6):541-7. doi: 10.1111/j.1399-0004.2010.01424.x.
9. 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.
10. A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. Lin Z, etal., Hum Mutat. 2008 Jan;29(1):113-22.
11. Neuronal ERCC6 mRNA expression in rat brain induced by a transient focal cerebral ischemia. Ling X, etal., Zhongguo Yao Li Xue Bao. 1999 Jan;20(1):15-20.
12. 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.
13. Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. Lu Y, etal., Mol Cell Biol. 2001 Mar;21(5):1810-8.
14. 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.
15. ERCC6/CSB gene polymorphisms and lung cancer risk. Ma H, etal., Cancer Lett. 2009 Jan 8;273(1):172-6. doi: 10.1016/j.canlet.2008.08.002. Epub 2008 Sep 11.
16. Genetic variation in the DNA repair genes is predictive of outcome in lung cancer. Matakidou A, etal., Hum Mol Genet. 2007 Oct 1;16(19):2333-40.
17. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Meira LB, etal., Am J Hum Genet. 2000 Apr;66(4):1221-8. Epub 2000 Mar 15.
18. Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. Nagtegaal AP, etal., J Neurosci. 2015 Mar 11;35(10):4280-6. doi: 10.1523/JNEUROSCI.5063-14.2015.
19. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
20. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
21. Mouse MP Annotation Import Pipeline RGD automated import pipeline
22. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
23. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
24. Functional, genetic, and epigenetic aspects of base and nucleotide excision repair in colorectal carcinomas. Slyskova J, etal., Clin Cancer Res. 2012 Nov 1;18(21):5878-87. doi: 10.1158/1078-0432.CCR-12-1380. Epub 2012 Sep 10.
25. 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.
26. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. van der Horst GT, etal., Cell. 1997 May 2;89(3):425-35.
27. Role for Nucleotide Excision Repair Gene Variants in Oxaliplatin-Induced Peripheral Neuropathy. West H, etal., JCO Precis Oncol. 2018 Nov;2:1-18. doi: 10.1200/PO.18.00090.
28. Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. Xin B and Wang H, Mol Syndromol. 2013 Jan;3(6):288-90. doi: 10.1159/000345924. Epub 2012 Dec 21.
29. Rat Model of Cockayne Syndrome Neurological Disease. Xu Y, etal., Cell Rep. 2019 Oct 22;29(4):800-809.e5. doi: 10.1016/j.celrep.2019.09.028.
30. CSB affected on the sensitivity of lung cancer cells to platinum-based drugs through the global decrease of let-7 and miR-29. Yang Z, etal., BMC Cancer. 2019 Oct 15;19(1):948. doi: 10.1186/s12885-019-6194-z.
31. Effect of dextromethorphan, a NMDA antagonist, on DNA repair in rat photochemical thrombotic cerebral ischemia. Yin KJ and Sun FY, Brain Res. 1999 Jan 2;815(1):29-35.
32. 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.
33. Identification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencing. Yu S, etal., PLoS One. 2014 Dec 2;9(12):e113914. doi: 10.1371/journal.pone.0113914. eCollection 2014.
34. Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders. Zhao XN and Usdin K, Hum Mutat. 2014 Mar;35(3):341-9.
35. Elevated Expression of ERCC6 Confers Resistance to 5-Fluorouracil and Is Associated with Poor Patient Survival in Colorectal Cancer. Zhao Z, etal., DNA Cell Biol. 2017 Sep;36(9):781-786. doi: 10.1089/dna.2017.3768. Epub 2017 Jun 30.
Additional References at PubMed
PMID:9607915   PMID:10349636   PMID:10416615   PMID:10806208   PMID:10843671   PMID:10850428   PMID:11005836   PMID:11042159   PMID:11059760   PMID:11076861   PMID:11217851   PMID:11408355  
PMID:11442761   PMID:11687625   PMID:12447686   PMID:12466851   PMID:12477932   PMID:12509265   PMID:12520002   PMID:12769854   PMID:12904583   PMID:14610273   PMID:14632192   PMID:15340056  
PMID:15533832   PMID:15949822   PMID:15979950   PMID:16051635   PMID:16141072   PMID:16141073   PMID:16182614   PMID:16315091   PMID:16319174   PMID:16472827   PMID:16602821   PMID:16769089  
PMID:16904611   PMID:17095637   PMID:17145777   PMID:17213818   PMID:17326724   PMID:17545594   PMID:17675188   PMID:17707230   PMID:18287559   PMID:18443001   PMID:18704162   PMID:18799693  
PMID:18992371   PMID:19020090   PMID:19179336   PMID:19389114   PMID:20100872   PMID:20147962   PMID:21062970   PMID:21143350   PMID:21522133   PMID:21566259   PMID:21677750   PMID:21873635  
PMID:21918225   PMID:22174697   PMID:22323595   PMID:22393014   PMID:22473955   PMID:23245699   PMID:23555303   PMID:23562425   PMID:23562818   PMID:23667505   PMID:24813611   PMID:25249633  
PMID:25440059   PMID:25726753   PMID:26044184   PMID:27122034   PMID:27365293   PMID:29031832   PMID:29742419   PMID:30158153   PMID:31367016   PMID:32271760   PMID:32290105   PMID:33166073  
PMID:34819667  


Genomics

Comparative Map Data
Ercc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391432,235,248 - 32,302,947 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1432,235,478 - 32,302,947 (+)EnsemblGRCm39 Ensembl
GRCm381432,513,291 - 32,580,990 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1432,513,521 - 32,580,990 (+)EnsemblGRCm38mm10GRCm38
MGSCv371433,326,707 - 33,394,175 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361431,342,530 - 31,409,998 (+)NCBIMGSCv36mm8
Celera1428,771,098 - 28,837,767 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.4NCBI
ERCC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381049,434,881 - 49,539,538 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1049,454,168 - 49,539,538 (-)EnsemblGRCh38hg38GRCh38
GRCh371050,642,927 - 50,747,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361050,336,715 - 50,417,078 (-)NCBINCBI36Build 36hg18NCBI36
Build 341050,336,714 - 50,417,078NCBI
Celera1044,250,656 - 44,333,241 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1044,927,342 - 45,011,950 (-)NCBIHuRef
CHM1_11050,944,706 - 51,029,274 (-)NCBICHM1_1
T2T-CHM13v2.01050,283,667 - 50,388,257 (-)NCBIT2T-CHM13v2.0
Ercc6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8167,771,311 - 7,841,895 (+)NCBIGRCr8
mRatBN7.2167,764,983 - 7,835,587 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl167,765,013 - 7,835,587 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx167,780,912 - 7,847,534 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0168,925,860 - 8,992,482 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0167,779,882 - 7,846,470 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0168,734,028 - 8,804,610 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl168,734,035 - 8,804,610 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01610,699,983 - 10,770,565 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4168,024,881 - 8,091,587 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1168,024,868 - 8,088,560 (+)NCBI
Celera167,365,531 - 7,432,176 (-)NCBICelera
Cytogenetic Map16p16NCBI
Ercc6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955556748,231 - 813,133 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955556745,175 - 812,215 (+)NCBIChiLan1.0ChiLan1.0
ERCC6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2861,722,441 - 61,811,183 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11061,721,084 - 61,812,606 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01044,703,720 - 44,784,948 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ERCC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1281,358,383 - 1,432,276 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl281,361,107 - 1,427,162 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha281,593,582 - 1,667,457 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0281,534,813 - 1,608,719 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl281,534,813 - 1,608,641 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,333,055 - 1,406,921 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0281,370,132 - 1,444,015 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0281,502,030 - 1,575,915 (-)NCBIUU_Cfam_GSD_1.0
Ercc6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721379,558,979 - 79,640,918 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936728761,804 - 844,690 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936728706,499 - 843,447 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1490,002,024 - 90,075,898 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11489,998,125 - 90,075,911 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21497,907,746 - 97,985,104 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Ercc6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624928463,279 - 530,115 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624928458,651 - 532,201 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ercc6
1845 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1238
Count of miRNA genes:637
Interacting mature miRNAs:791
Transcripts:ENSMUST00000066807
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

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

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357589Kdnw2_mkidney weight 2 (mouse)Not determined1420887473121269804Mouse
27226748Femd8_mfemur midshaft diameter 8, 10 week (mouse)141376927346737457Mouse
1357527Epfpq1_mepididymal fat percentage QTL 1 (mouse)Not determined142106245071885801Mouse
27226744Metcl6_mmetatarsal-calcaneal length 6, 5 week (mouse)143032195752937457Mouse
27226775Tibl7_mtibia length 7, 5 week (mouse)143032195748837457Mouse
27226774Tibl15_mtibia length 15, 10 week (mouse)143032195787937436Mouse
4142485Modor2_mmodifier of ocular retardation 2 (mouse)Not determined142492624858179769Mouse
1301372Sluc13_msusceptibility to lung cancer 13 (mouse)Not determined141882760452827726Mouse
4141550Dbm3_mdiabetes modifier 3 (mouse)Not determined514347339143596Mouse
1300544Hypn_mhyperinsulinemia (mouse)Not determined141516061649160765Mouse
1301991Wta3_mweight adult 3 (mouse)Not determined14388747337887650Mouse
1300998Cia17_mcollagen induced arthritis 17 (mouse)Not determined143033525064335381Mouse
4141864Mrdq4_mmodifier of retinal degeneration QTL 4 (mouse)Not determined992324548765082Mouse
10043886Cia49_mcollagen induced arthritis QTL 49 (mouse)Not determined142999699463997133Mouse
1300779Dyscalc4_mdystrophic cardiac calcinosis 4 (mouse)Not determined141221287146213007Mouse
14746973Manh76_mmandible shape 76 (mouse)142228721756287217Mouse
1300909Ath13_matherosclerosis 13 (mouse)Not determined143033525064335381Mouse
27226752Femd4_mfemur midshaft diameter 4, 5 week (mouse)141376927347237457Mouse
13506929Recrq10_mrecombination rate in male meiosis QTL 10 (mouse)142792195761137449Mouse

Markers in Region
UniSTS:237160  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381432,526,545 - 32,526,758UniSTSGRCm38
MGSCv371433,339,731 - 33,339,944UniSTSGRCm37
Celera1428,784,122 - 28,784,335UniSTS
Cytogenetic Map14BUniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001081221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006519120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006519123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006519125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006519126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030247859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030247860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036158667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036158668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_003950863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_003950864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_383187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC154412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK028576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK040645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK048416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK138738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK139396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000066807   ⟹   ENSMUSP00000066256
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1432,235,478 - 32,302,947 (+)Ensembl
GRCm38.p6 Ensembl1432,513,521 - 32,580,990 (+)Ensembl
Ensembl Acc Id: ENSMUST00000226285
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1432,257,439 - 32,263,598 (+)Ensembl
GRCm38.p6 Ensembl1432,535,482 - 32,541,641 (+)Ensembl
Ensembl Acc Id: ENSMUST00000227434
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1432,273,209 - 32,275,913 (+)Ensembl
GRCm38.p6 Ensembl1432,551,252 - 32,553,956 (+)Ensembl
Ensembl Acc Id: ENSMUST00000228017
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1432,235,487 - 32,264,708 (+)Ensembl
GRCm38.p6 Ensembl1432,513,530 - 32,542,751 (+)Ensembl
Ensembl Acc Id: ENSMUST00000228035
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1432,270,108 - 32,280,495 (+)Ensembl
GRCm38.p6 Ensembl1432,548,151 - 32,558,538 (+)Ensembl
Ensembl Acc Id: ENSMUST00000228549   ⟹   ENSMUSP00000154246
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1432,274,532 - 32,299,061 (+)Ensembl
GRCm38.p6 Ensembl1432,552,575 - 32,577,104 (+)Ensembl
RefSeq Acc Id: NM_001081221   ⟹   NP_001074690
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,478 - 32,302,947 (+)NCBI
GRCm381432,513,521 - 32,580,990 (+)NCBI
MGSCv371433,326,707 - 33,394,175 (+)RGD
Celera1428,771,098 - 28,837,767 (+)RGD
cM Map14 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006519120   ⟹   XP_006519183
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006519123   ⟹   XP_006519186
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006519125   ⟹   XP_006519188
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,263,872 - 32,302,947 (+)NCBI
GRCm381432,526,528 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006519126   ⟹   XP_006519189
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,263,265 - 32,302,947 (+)NCBI
GRCm381432,548,151 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030247859   ⟹   XP_030103719
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030247860   ⟹   XP_030103720
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XM_036158667   ⟹   XP_036014560
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
Sequence:
RefSeq Acc Id: XM_036158668   ⟹   XP_036014561
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
Sequence:
RefSeq Acc Id: XR_003950863
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XR_003950864
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: XR_383187
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391432,235,248 - 32,302,947 (+)NCBI
GRCm381432,513,291 - 32,580,990 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001074690   ⟸   NM_001081221
- UniProtKB: F8VPZ5 (UniProtKB/Swiss-Prot),   A3KMN2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006519183   ⟸   XM_006519120
- Peptide Label: isoform X1
- UniProtKB: A3KMN2 (UniProtKB/Swiss-Prot),   F8VPZ5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006519186   ⟸   XM_006519123
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006519188   ⟸   XM_006519125
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006519189   ⟸   XM_006519126
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_030103720   ⟸   XM_030247860
- Peptide Label: isoform X3
RefSeq Acc Id: XP_030103719   ⟸   XM_030247859
- Peptide Label: isoform X2
Ensembl Acc Id: ENSMUSP00000066256   ⟸   ENSMUST00000066807
Ensembl Acc Id: ENSMUSP00000154246   ⟸   ENSMUST00000228549
RefSeq Acc Id: XP_036014561   ⟸   XM_036158668
- Peptide Label: isoform X3
RefSeq Acc Id: XP_036014560   ⟸   XM_036158667
- Peptide Label: isoform X2
Protein Domains
Helicase ATP-binding   Helicase C-terminal   SNF2 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-F8VPZ5-F1-model_v2 AlphaFold F8VPZ5 1-1481 view protein structure

Promoters
RGD ID:8681872
Promoter ID:EPDNEW_M18967
Type:initiation region
Name:Ercc6_1
Description:Mus musculus excision repair cross-complementing rodent repairdeficiency, complementation group 6 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M18968  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381432,513,530 - 32,513,590EPDNEW
RGD ID:8681874
Promoter ID:EPDNEW_M18968
Type:single initiation site
Name:Ercc6_2
Description:Mus musculus excision repair cross-complementing rodent repairdeficiency, complementation group 6 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M18967  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381432,515,527 - 32,515,587EPDNEW
RGD ID:6824904
Promoter ID:MM_KWN:16144
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4
Transcripts:NM_001081221,   UC007SZD.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361433,326,506 - 33,327,006 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1100494 AgrOrtholog
Ensembl Genes ENSMUSG00000054051 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000066807 ENTREZGENE
  ENSMUST00000066807.8 UniProtKB/Swiss-Prot
  ENSMUST00000228549.2 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10810 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot
InterPro Helicase_ATP-bd UniProtKB/Swiss-Prot
  Helicase_C UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54-like_C UniProtKB/Swiss-Prot
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_RAD54_helicase_repair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:319955 UniProtKB/Swiss-Prot
MGD MGI:1100494 ENTREZGENE
NCBI Gene Ercc6 ENTREZGENE
PANTHER DNA EXCISION REPAIR PROTEIN ERCC-6-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54 FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Helicase_C UniProtKB/Swiss-Prot
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERCC6 RGD
PhenoGen Ercc6 PhenoGen
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot
  HELICASE_CTER UniProtKB/Swiss-Prot
SMART DEXDc UniProtKB/Swiss-Prot
  HELICc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2I3BQP1_MOUSE UniProtKB/TrEMBL
  A3KMN2 ENTREZGENE
  ERCC6_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q8C851_MOUSE UniProtKB/TrEMBL
UniProt Secondary A3KMN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-08-21 Ercc6  excision repair cross-complementing rodent repair deficiency, complementation group 6  Ercc6  excision repair cross-complementing rodent repair deficiency, complementation group  Symbol and/or name change 5135510 APPROVED
2024-08-21 Ercc6  excision repair cross-complementing rodent repair deficiency, complementation group  Ercc6  excision repair cross-complementing rodent repair deficiency, complementation group 6  Symbol and/or name change 5135510 APPROVED