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Setx Gene Detail
Summary
  • Symbol
    Setx
  • Name
    senataxin
  • Synonyms
    A930037J23Rik, Als4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443480
    NCBI Gene: 269254
  • Gene Overview
    MyGene.info: SETX
Location & Maps
more
  • Sequence Map
    Chr2:29124181-29182471 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      58291 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 19.45 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SETX, senataxin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SETX, senataxin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALS4, AOA2, bA479K20.2, SCAR1
  • Links
    NCBI Gene ID: 23064
    neXtProt AC: NX_Q7Z333

  • Chr Location
    9q34.13; chr9:132261440-132356726 (-)  GRCh38.p2
  • HomoloGene
    Vertebrate Homology Class 41003
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SETX
  • Gene Tree
    Setx
Human Diseases
more
  • Diseases
    2 with human SETX associations

Human Disease Mouse Models
       Amyotrophic Lateral Sclerosis 4, Juvenile; ALS4   OMIM: 602433
Spinocerebellar Ataxia, Autosomal Recessive 1; SCAR1   OMIM: 606002
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    3 images
    13 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.
Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    42
  • GO References
    3
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
less
  • cDNA Data
    9
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000011825 VEGA Gene Model | MGI Sequence Detail 58291 C57BL/6J ±  kb
transcript OTTMUST00000027763 VEGA | MGI Sequence Detail 10970 Not Applicable  
polypeptide OTTMUSP00000012614 VEGA | MGI Sequence Detail 2646 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    170 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • EC
    3.6.4.-
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR026121 Probable helicase senataxin
Molecular
Reagents
less
  • All nucleic 9
    cDNA 9

    Microarray probesets 4
Other
Accession IDs
less
MGI:2139292
References
more
  • Summaries
    All 35
    Gene Ontology 3
    Phenotypes 13
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:231861 Miller MS, et al., Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis. Nat Immunol. 2015 May;16(5):485-94
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory