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Slx4 Gene Detail
Summary
  • Symbol
    Slx4
  • Name
    SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
  • Synonyms
    Btbd12, D16Bwg1016e
  • Feature Type
    protein coding gene
  • IDs
    MGI:106299
    NCBI Gene: 52864
  • Gene Overview
    MyGene.info: SLX4
Location & Maps
more
  • Sequence Map
    Chr16:3979105-4003770 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24666 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 2.34 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLX4, SLX4 structure-specific endonuclease subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SLX4, SLX4 structure-specific endonuclease subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BTBD12, FANCP, MUS312
  • Links
    NCBI Gene ID: 84464
    neXtProt AC: NX_Q8IY92

  • Chr Location
    16p13.3; chr16:3581165-3611598 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Slx4 mouse models; 2 with human SLX4 associations

Human Disease Mouse Models
       Fanconi Anemia, Complementation Group P; FANCP   OMIM: 613951 View 1 "NOT" model
       Fanconi-Like Syndrome   OMIM: 227850
       Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
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
    61 phenotypes from 4 alleles in 6 genetic backgrounds
    15 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.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    5
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit some preweaning lethality, reduced fertility, abnormal eye morphology, abnormal skeletal morphology, hydrocephalus, chromosomal instability, early cellular replicative senescence, and abnormal lymphopoeisis.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017267 VEGA Gene Model | MGI Sequence Detail 24666 C57BL/6J ±  kb
transcript OTTMUST00000041796 VEGA | MGI Sequence Detail 5706 Not Applicable  
polypeptide OTTMUSP00000018794 VEGA | MGI Sequence Detail 1565 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    187 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 48
    cDNA 47
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-33991, MGI:2146396, MGI:2146426
References
more
  • Summaries
    All 44
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 6
    Phenotypes 15
  • Earliest
    J:44483 Brady KP, et al., Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Genome Res. 1997 Nov;7(11):1085-93
  • Latest
    J:232403 Lachaud C, et al., Karyomegalic interstitial nephritis and DNA damage-induced polyploidy in Fan1 nuclease-defective knock-in mice. Genes Dev. 2016 Mar 15;30(6):639-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory