Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ercc2provided by MGI
Official Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 2provided by MGI
Primary source: MGI:MGI:95413
See related: Ensembl:ENSMUSG00000030400 AllianceGenome:MGI:95413
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: XPD; CXPD; Ercc-2; RCO015; Mhdarco15
Summary: Predicted to enable several functions, including 5'-3' DNA helicase activity; protein C-terminus binding activity; and protein N-terminus binding activity. Acts upstream of or within several processes, including animal organ development; neurogenesis; and nucleic acid metabolic process. Located in nucleus. Is expressed in central nervous system; eye; hair follicle; and liver. Used to study photosensitive trichothiodystrophy and xeroderma pigmentosum group D. 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 38.9), ovary adult (RPKM 35.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 9.62 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (19115942..19129619)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19382017..19395694)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results describe a recessive cataract caused by a mutation in the Xpd/Ercc2 gene and demonstrate the importance of the gene not only for lens fiber cell differentiation, but also for the sensitivity to ionizing radiation.
Title: New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.
Compound TTD/XPCS heterozygosity partially rescues metabolic phenotype associated with homozygous XPD alleles. TTD allele dominates over XPCS allele in measures of UV-sensitivity.
Title: Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.
ERCC2 plays role in lung cancer development in a Chinese population.
Title: HapMap-based study of the DNA repair gene ERCC2 and lung cancer susceptibility in a Chinese population.
results support a general model for premature aging in Xpd DNA repair deficient mice based on cellular responses to DNA damage that impair normal tissue homeostasis
Title: Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice.
New pathology features support the premature aging phenotype of Xpd(TTD) mutant mice and further strengthen the link between DNA damage, DNA repair and aging.
Title: Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction.
XPCS with a G602D-encoding mutation in the Xpd helicase gene is the most skin cancer-prone NER model to date, and it shows an unusual NER dysfunction that is likely responsible for this susceptibility
Title: An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
premature aging associated with XPD mutation in mice
Title: Premature aging in mice deficient in DNA repair and transcription.
Mutations in XPD subunit of TFIIH result in transactivation defect of PPARs in the adipose tissue and the liver.
Title: Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations.
a variety of biallelic effects on organismal phenotype which attributes to combinations of recessive Xpd alleles
Title: Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW240756 (e-PCR)
- UniSTS:179529

Tbxas1 (e-PCR), detects polymorphism
- UniSTS:265585

RH136578 (e-PCR)
- UniSTS:210558

GDB:364021 (e-PCR)
- UniSTS:156800

RH124636 (e-PCR)
- UniSTS:161458

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 5'-3' DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA Inferred from Electronic Annotation more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within UV protection	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within UV protection	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system myelin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome segregation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cleavage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within erythrocyte maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hair cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair cycle process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleobase-containing compound metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic cell cycle phase transition	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ribosomal small subunit biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transcription elongation by RNA polymerase I	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	ISO Inferred from Sequence Orthology more info
involved_in transcription-coupled nucleotide-excision repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of CAK-ERCC2 complex	ISO Inferred from Sequence Orthology more info
part_of MMXD complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in spindle	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIID complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH core complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH holo complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: general transcription and DNA repair factor IIH helicase subunit XPD

Names: DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex helicase XPD subunit; xeroderma pigmentosum group D-complementing protein

NP_001350910.1

EC 3.6.4.12

NP_031975.2

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001363981.1 → NP_001350910.1 general transcription and DNA repair factor IIH helicase subunit XPD isoform 2

Status: VALIDATED

Source sequence(s)

AC118017

Consensus CDS

CCDS90172.1

UniProtKB/TrEMBL

E9Q6K1, Q8K223

Related

ENSMUSP00000104100.2, ENSMUST00000108460.8

Conserved Domains (1) summary

TIGR00604
Location:7 → 687

rad3; DNA repair helicase (rad3)
NM_007949.5 → NP_031975.2 general transcription and DNA repair factor IIH helicase subunit XPD isoform 1

See identical proteins and their annotated locations for NP_031975.2

Status: VALIDATED

Source sequence(s)

AC118017

Consensus CDS

CCDS20900.1

UniProtKB/Swiss-Prot

O08811, Q8C487, Q9DC01

UniProtKB/TrEMBL

Q3UKK7

Related

ENSMUSP00000054380.10, ENSMUST00000062831.16

Conserved Domains (4) summary

smart00488
Location:8 → 280

DEXDc2; DEAD-like helicases superfamily

smart00491
Location:542 → 686

HELICc2; helicase superfamily c-terminal domain

TIGR00604
Location:7 → 708

rad3; DNA repair helicase (rad3)

pfam06777
Location:272 → 413

HBB; Helical and beta-bridge domain