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Atxn7
Gene Detail
Symbol

Name
ID
Atxn7
ataxin 7
MGI:2179277
Synonyms
A430107N12Rik, ataxin-7, Sca7
Feature Type
protein coding gene
Genetic Map
Chromosome 14
7.08 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr14:14012491-14107296 bp, + strand
From Ensembl annotation of GRCm38

  94806 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30967  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ATXN7
Gene Tree: Atxn7

Human
homologs
ATXN7, ataxin 7
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6314
neXtProt AC: NX_O15265

Human Synonyms: ADCAII, OPCA3, SCA7

Human Chr (Location): 3p21.1-p12; chr3:63864557-64003462 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ATXN7

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(3) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age.
 
Human Diseases Modeled in Mice Using Atxn7 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(1)
Interactions
Atxn7 interacts with 422 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process histone deubiquitination, microtubule cytoskeleton organization, ...
Component cytoplasm, cytoskeleton, ...
Function chromatin binding, protein binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (800)    Tissues (121)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 282
RNA in situ 480
Northern blot 13
Western blot 25
cDNA source data(44)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase atxn7    NEW 
Molecular
reagents
All nucleic(46) Genomic(1) cDNA(44) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000021738 (Evidence)
Entrez Gene 246103 (Evidence)
UniGene 133625
DFCI TC1583502, TC1613915, TC1711198
DoTS DT.94278791, DT.527631, DT.97339357, DT.480950
NIA Mouse Gene Index U015319
Consensus CDS Project CCDS26823.1
International Mouse Phenotyping Consortium Status Atxn7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021738 Ensembl Gene Model | MGI Sequence Detail 94806 C57BL/6J ±  kb
transcript ENSMUST00000022257 Ensembl | MGI Sequence Detail 6847 Not Applicable 
polypeptide ENSMUSP00000022257 Ensembl | MGI Sequence Detail 867 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(8) UniProt(2)
Polymorphisms
SNPs within 2kb(596 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013243 SCA7 domain
InterPro IPR015880 Zinc finger, C2H2-like
Protein Ontology PR:000004508 ataxin-7
References
(Earliest) J:65411 Yvert G, et al., Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol Genet. 2000 Oct 12;9(17):2491-506
(Latest) J:185460 Noma S, et al., Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. Neurosci Res. 2012 Jun;73(2):115-21
All references(46)
Disease annotation references (4)
Other
accession IDs
MGI:1925682, MGI:2145682

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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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory