ATXN7 (ataxin 7)

2014-08-01  

Identity

HGNC
ATXN7
LOCATION
3p14.1
LOCUSID
6314
ALIAS
ADCAII,OPCA3,SCA7,SGF73
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6314
MIM: 607640
HGNC: 10560
Ensembl: ENSG00000285399

Variants:

dbSNP: 6314
ClinVar: 6314
TCGA: ENSG00000285399
COSMIC: ATXN7

RNA/Proteins

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880

References

Pubmed IDYearTitleCitations
382165512024Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.2
382165512024Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death.2
333386332021Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.8
340122252021Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.1
333386332021Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function.8
340122252021Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.1
325580182020Deciphering the natural history of SCA7 in children.4
325580182020Deciphering the natural history of SCA7 in children.4
305591542019SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.12
310977492019Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates α-helix formation of the polyQ tract but suppresses its aggregation.6
305591542019SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.12
310977492019Structural and dynamic studies reveal that the Ala-rich region of ataxin-7 initiates α-helix formation of the polyQ tract but suppresses its aggregation.6
285859302017Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.9
285979102017A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.0
286453412017Spinocerebellar Ataxia.0

Citation

Dessen P

ATXN7 (ataxin 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54145/css/lib/js/lib/css/gene-explorer/