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Ercc4
Gene Detail
 Symbol
Name
ID
Ercc4
excision repair cross-complementing rodent repair deficiency, complementation group 4
MGI:1354163
Synonyms Xpf
Feature Type protein coding gene
Genetic Map
Chromosome 16
8.93 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr16:13109684-13150617 bp, + strand
From VEGA annotation of GRCm38

  40934 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3836  Vertebrate Homology Class
1 human; 1 mouse; 2 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: DNA repair endonuclease
Gene Tree: Ercc4

Human
homologs
Human Homolog ERCC4, excision repair cross-complementation group 4
NCBI Gene ID 2072
neXtProt AC  NX_Q92889
Human Synonyms  ERCC11, FANCQ, RAD1, XPF
Human Chr (Location)  16p13.12; chr16:13920157-13952348 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human ERCC4
Mutations,
alleles, and
phenotypes
All mutations/alleles(51) : Gene trapped(50) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation.
 
Human Diseases Modeled Using Mouse Ercc4 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Ercc4 interacts with 320 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process cellular response to DNA damage stimulus, DNA catabolic process, endonucleolytic, ...
Component chromosome, telomeric region, nuclear chromosome, telomeric region, ...
Function damaged DNA binding, DNA binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (40)    Tissues (26)    Images (13)
Theiler Stages: 19, 23, 28
Assay TypeResults
RNA in situ 40
cDNA source data(48)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(48) cDNA(48)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000024311 (Evidence)
Ensembl Gene ModelENSMUSG00000022545 (Evidence)
Entrez Gene50505 (Evidence)
UniGene287837
DFCITC1580710, TC1595699, TC1598837, TC1619722
DoTSDT.101378135, DT.101724887, DT.60101419, DT.60104925
NIA Mouse Gene IndexU016819
EC3.1.-.-
Consensus CDS ProjectCCDS37256.1
International Mouse Knockout Project StatusErcc4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024311 VEGA Gene Model | MGI Sequence Detail 40934 C57BL/6J ±  kb
transcript OTTMUST00000059540 VEGA | MGI Sequence Detail 3480 Not Applicable 
polypeptide OTTMUSP00000028967 VEGA | MGI Sequence Detail 917 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(3) UniProt(6)
Polymorphisms RFLP(1) : SNPs within 2kb(188 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020819 DNA repair nuclease, XPF-type/Helicase
InterPro IPR006167 DNA repair protein
InterPro IPR006166 ERCC4 domain
InterPro IPR011335 Restriction endonuclease type II-like
InterPro IPR010994 RuvA domain 2-like
Protein Ontology PR:000007166 DNA repair endonuclease XPF
References (Earliest) J:60251 Shannon M, et al., Characterization of the mouse Xpf DNA repair gene and differential expression during spermatogenesis. Genomics. 1999 Dec 15;62(3):427-35
(Latest) J:181994 Kamileri I, et al., Defective transcription initiation causes postnatal growth failure in a mouse model of nucleotide excision repair (NER) progeria. Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2995-3000
All references(42)
Disease annotation references (1)
Other
accession IDs
MGI:2146464

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory