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Ercc4 Gene Detail
Summary
  • Symbol
    Ercc4
  • Name
    excision repair cross-complementing rodent repair deficiency, complementation group 4
  • Synonyms
    Xpf
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354163
    NCBI Gene: 50505
  • Gene Overview
    MyGene.info: ERCC4
Location & Maps
more
  • Sequence Map
    Chr16:13109684-13150617 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      40934 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 8.93 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ERCC4, ERCC excision repair 4, endonuclease catalytic subunit
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ERCC4, ERCC excision repair 4, endonuclease catalytic subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ERCC11, FANCQ, RAD1, XFEPS, XPF
  • Links
    NCBI Gene ID: 2072
    neXtProt AC: NX_Q92889

  • Chr Location
    16p13.12; chr16:13920145-13952348 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ercc4 mouse models; 4 with human ERCC4 associations

Human Disease Mouse Models
       Xeroderma Pigmentosum, Complementation Group F; XPF   OMIM: 278760 View 1 model
       Fanconi Anemia, Complementation Group Q; FANCQ   OMIM: 615272
Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Xfe Progeroid Syndrome; XFEPS   OMIM: 610965
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    188 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 48
    cDNA 48

    Microarray probesets 7
Other
Accession IDs
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MGI:2146464
References
more
  • Summaries
    All 39
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 9
    Phenotypes 10
  • 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:218236 Perez-Oliva AB, et al., USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses. EMBO J. 2015 Feb 3;34(3):326-43

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
08/17/2016
MGI 6.05
The Jackson Laboratory