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Atxn2 Gene Detail
Summary
  • Symbol
    Atxn2
  • Name
    ataxin 2
  • Synonyms
    9630045M23Rik, ATX2, Sca2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277223
    NCBI Gene: 20239
  • Gene Overview
    MyGene.info: ATXN2
Location & Maps
more
  • Sequence Map
    Chr5:121711337-121816493 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      105157 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 61.93 cM, cytoband F
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    ATXN2, ataxin 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATXN2, ataxin 2
    Orthology source: HomoloGene
  • Synonyms
    ASL13, ATX2, SCA2, TNRC13
  • Links
    NCBI Gene ID: 6311
    neXtProt AC: NX_Q99700

  • Chr Location
    12q24.1; chr12:111452214-111599676 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 2234
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ATXN2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Atxn2 mouse models; 2 with human ATXN2 associations

Human Disease Mouse Models
       Spinocerebellar Ataxia 2; SCA2   OMIM: 183090 View 2 models
       Parkinson Disease, Late-Onset; PD   OMIM: 168600
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    8 phenotypes from multigenic genotypes
    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.
  • All Mutations and Alleles
    46
  • Chemically induced (other)
    1
  • Gene trapped
    36
  • Radiation induced
    1
  • Targeted
    6
  • Transgenic
    2
  • Genomic Mutations
    2 involving Atxn2
  • Incidental Mutations
Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034728 VEGA Gene Model | MGI Sequence Detail 105157 C57BL/6J ±  kb
transcript OTTMUST00000088229 VEGA | MGI Sequence Detail 4472 Not Applicable  
polypeptide OTTMUSP00000048071 VEGA | MGI Sequence Detail 1286 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    69 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 25
    Genomic 1
    cDNA 22
    Primer pair 2

    Microarray probesets 8
Other
Accession IDs
less
MGI:2141216, MGI:2444884
References
more
  • Summaries
    All 46
    Developmental Gene Expression 5
    Diseases 2
    Gene Ontology 6
    Phenotypes 23
  • Earliest
    J:43214 Kawaguchi Y, et al., CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet. 1994 Nov;8(3):221-8
  • Latest
    J:191127 Hansen ST, et al., Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet. 2013 Jan 15;22(2):271-83

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
07/12/2016
MGI 6.04
The Jackson Laboratory