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Atxn7 Gene Detail
Summary
  • Symbol
    Atxn7
  • Name
    ataxin 7
  • Synonyms
    A430107N12Rik, ataxin-7, Sca7
  • Feature Type
    protein coding gene
  • IDs
    MGI:2179277
    NCBI Gene: 246103
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:8362461-8508323 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 7.08 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3456 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2179277
 protein coding gene Chr14:8358358-8508324 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021005
 protein coding gene Chr14:6537829-6629004 (+)
A/J MGP_AJ_G0020953
 protein coding gene Chr14:6383873-6480050 (+)
AKR/J MGP_AKRJ_G0020930
 protein coding gene Chr14:6482371-6575480 (+)
BALB/cJ MGP_BALBcJ_G0020956
 protein coding gene Chr14:6392852-6489266 (+)
C3H/HeJ MGP_C3HHeJ_G0020740
 protein coding gene Chr14:6579909-6676371 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021389
 protein coding gene Chr14:6717682-6816736 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018958
 protein coding gene Chr14:7028623-7120499 (+)
CAST/EiJ MGP_CASTEiJ_G0020262
 protein coding gene Chr14:6565121-6657260 (+)
CBA/J MGP_CBAJ_G0020706
 protein coding gene Chr14:6966350-7069239 (+)
DBA/2J MGP_DBA2J_G0020829
 protein coding gene Chr14:6303081-6397871 (+)
FVB/NJ MGP_FVBNJ_G0020811
 protein coding gene Chr14:6235059-6326362 (+)
LP/J MGP_LPJ_G0020905
 protein coding gene Chr14:6556922-6655968 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020837
 protein coding gene Chr14:7013327-7109045 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021422
 protein coding gene Chr14:6437997-6544184 (+)
PWK/PhJ MGP_PWKPhJ_G0020014
 protein coding gene Chr14:6300853-6391133 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019834
 protein coding gene Chr14:6543785-6638203 (+)
WSB/EiJ MGP_WSBEiJ_G0020320
 protein coding gene Chr14:6476317-6572724 (+)



Homology
more
  • Human Ortholog
    ATXN7, ataxin 7
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATXN7, ataxin 7
  • Synonyms
    ADCAII, OPCA3, SCA7, SGF73
  • Links
    NCBI Gene ID: 6314
    neXtProt AC: NX_O15265
    UniProt: O15265

  • Chr Location
    3p14.1; chr3:63863144-64003462 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atxn7 mouse models; 1 with human ATXN7 associations

Human Disease Mouse Models
      
IDs
 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 2 alleles in 4 genetic backgrounds
    15 phenotypes from multigenic genotypes
    1 images
    22 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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    13
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
    1508
  • Tissues
    123
  • cDNA Data
    46
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021738 Ensembl Gene Model | MGI Sequence Detail 145863 C57BL/6J ±  kb
    transcript ENSMUST00000223714 Ensembl | MGI Sequence Detail 2954 Not Applicable  
    polypeptide ENSMUSP00000153613 Ensembl | MGI Sequence Detail 920 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 1
      cDNA 46
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1925682, MGI:2145682
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 13
      Phenotypes 22
    • Earliest
      J:19723 Nishiguchi S, et al., A survey of genes expressed in undifferentiated mouse embryonal carcinoma F9 cells: characterization of low-abundance mRNAs. J Biochem. 1994 Jul;116(1):128-39
    • Latest
      J:351184 Zhou C, et al., Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death. Nat Commun. 2024 Jan 12;15(1):499
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory