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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:12927548-12968481 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 8.93 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1127 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354163
 protein coding gene Chr16:12927548-12969873 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022529
 protein coding gene Chr16:10065500-10103751 (+)
A/J MGP_AJ_G0022491
 protein coding gene Chr16:9496438-9535688 (+)
AKR/J MGP_AKRJ_G0022467
 protein coding gene Chr16:9929014-9970480 (+)
BALB/cJ MGP_BALBcJ_G0022495
 protein coding gene Chr16:9660742-9706823 (+)
C3H/HeJ MGP_C3HHeJ_G0022262
 protein coding gene Chr16:10008442-10051613 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022944
 protein coding gene Chr16:10220337-10265520 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020464
 protein coding gene Chr16:9610513-9643328 (+)
CAST/EiJ MGP_CASTEiJ_G0021789
 protein coding gene Chr16:10012737-10054399 (+)
CBA/J MGP_CBAJ_G0022231
 protein coding gene Chr16:10673397-10719734 (+)
DBA/2J MGP_DBA2J_G0022362
 protein coding gene Chr16:9498544-9537888 (+)
FVB/NJ MGP_FVBNJ_G0022338
 protein coding gene Chr16:9494192-9528854 (+)
LP/J MGP_LPJ_G0022430
 protein coding gene Chr16:9983740-10029332 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022360
 protein coding gene Chr16:10334097-10372123 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022957
 protein coding gene Chr16:9901842-9937516 (+)
PWK/PhJ MGP_PWKPhJ_G0021531
 protein coding gene Chr16:9764382-9800457 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021359
 protein coding gene Chr16:9885618-9927182 (+)
WSB/EiJ MGP_WSBEiJ_G0021837
 protein coding gene Chr16:9926686-9963178 (+)



Homology
more
  • Human Ortholog
    ERCC4, ERCC excision repair 4, endonuclease catalytic subunit
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERCC4, ERCC excision repair 4, endonuclease catalytic subunit
  • Synonyms
    ERCC11, FANCQ, RAD1, XFEPS, XPF
  • Links
    NCBI Gene ID: 2072
    neXtProt AC: NX_Q92889
    UniProt: Q92889

  • Chr Location
    16p13.12; chr16:13920138-13952348 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ercc4 mouse models; 6 with human ERCC4 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    14 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
less
  • All GO Annotations
    54
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    746
  • Tissues
    26
  • cDNA Data
    49
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022545 Ensembl Gene Model | MGI Sequence Detail 40934 C57BL/6J ±  kb
    transcript ENSMUST00000023206 Ensembl | MGI Sequence Detail 3480 Not Applicable  
    polypeptide ENSMUSP00000023206 Ensembl | MGI Sequence Detail 917 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 49

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2146464
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 9
      Phenotypes 14
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory