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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
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:29014193-29072483 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 19.45 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1074 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443480
 protein coding gene Chr2:29013600-29072483 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025537
 protein coding gene Chr2:27235105-27300398 (+)
A/J MGP_AJ_G0025514
 protein coding gene Chr2:26192590-26251521 (+)
AKR/J MGP_AKRJ_G0025484
 protein coding gene Chr2:27064124-27129574 (+)
BALB/cJ MGP_BALBcJ_G0025510
 protein coding gene Chr2:26320740-26381021 (+)
C3H/HeJ MGP_C3HHeJ_G0025271
 protein coding gene Chr2:26982534-27047909 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025954
 protein coding gene Chr2:28129044-28194345 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023364
 protein coding gene Chr2:25001152-25058985 (+)
CAST/EiJ MGP_CASTEiJ_G0024734
 protein coding gene Chr2:26886839-26951587 (+)
CBA/J MGP_CBAJ_G0025249
 protein coding gene Chr2:29082601-29160697 (+)
DBA/2J MGP_DBA2J_G0025382
 protein coding gene Chr2:25987517-26048531 (+)
FVB/NJ MGP_FVBNJ_G0025344
 protein coding gene Chr2:25795061-25853632 (+)
LP/J MGP_LPJ_G0025468
 protein coding gene Chr2:27167112-27232845 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025375
 protein coding gene Chr2:29080860-29145188 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026013
 protein coding gene Chr2:26975031-27038749 (+)
PWK/PhJ MGP_PWKPhJ_G0024481
 protein coding gene Chr2:25802763-25862408 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024281
 protein coding gene Chr2:27081897-27143483 (+)
WSB/EiJ MGP_WSBEiJ_G0024803
 protein coding gene Chr2:27096831-27170556 (+)



Homology
more
  • Human Ortholog
    SETX, senataxin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SETX, senataxin
  • Synonyms
    ALS4, AOA2, bA479K20.2, SCAN2, SCAR1, Sen1, STEX
  • Links
    NCBI Gene ID: 23064
    neXtProt AC: NX_Q7Z333
    UniProt: Q7Z333

  • Chr Location
    9q34.13; chr9:132261356-132356744 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Setx mouse models; 2 with human SETX associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    3 images
    23 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
less
  • All GO Annotations
    61
  • GO References
    7
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
    712
  • Tissues
    3
  • cDNA Data
    11
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000043535 Ensembl Gene Model | MGI Sequence Detail 58291 C57BL/6J ±  kb
    transcript ENSMUST00000061578 Ensembl | MGI Sequence Detail 10970 Not Applicable  
    polypeptide ENSMUSP00000051492 Ensembl | MGI Sequence Detail 2646 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000031605 probable helicase senataxin
      (term hierarchy)
    • EC
      3.6.4.-
    • InterPro Domains
      IPR041677 DNA2/NAM7 helicase, helicase domain
      IPR041679 DNA2/NAM7 helicase-like, C-terminal
      IPR045055 DNA2/NAM7-like helicase
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR047187 Upf1-like, C-terminal helicase domain
    • GlyGen
      A2AKX3 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2139292
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 7
      Phenotypes 23
    • 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: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)
    Citing These Resources
    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