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    LOC108660406 ataxin 7 repeat instability region [ Homo sapiens (human) ]

    Gene ID: 108660406, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC108660406
    Gene description
    ataxin 7 repeat instability region
    Gene type
    biological region
    Feature type(s)
    misc_feature: repeat_instability_region
    repeat_region
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This biological region is found within the 5' coding region of the ataxin 7 (ATXN7) gene on the p arm of chromosome 3, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein, and are known to be a cause of spinocerebellar ataxia type 7 (SCA7), an autosomal dominant progressive disorder. There is allelic variation at this locus, with about 4-18 CAG repeats for most alleles. Expanded repeats are variable in size, and can be unstable when transmitted to successive generations, with greater instability observed during paternal transmissions. Repeats of 18-35 can be asymptomatic, but are predisposed for further expansion. Pathogenic alleles have been observed to contain up to 460 CAG repeats, with variable penetrance for alleles with fewer repeats. There is a negative correlation between the CAG repeat number and age of disease onset. [provided by RefSeq, Jan 2017]
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    Genomic context

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    See LOC108660406 in Genome Data Viewer
    Location:
    3p21.1-p12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63912685..63912716)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63956303..63956334)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63898361..63898392)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene THO complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14500 Neighboring gene THOC7 antisense RNA 1 Neighboring gene ataxin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20032 Neighboring gene SCA7/ATXN7 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:63946089-63946588 Neighboring gene NANOG hESC enhancer GRCh37_chr3:63950216-63950720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20035 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:63956153-63956804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:63958786-63959286 Neighboring gene NANOG hESC enhancer GRCh37_chr3:63986120-63986621 Neighboring gene PSMD6 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64008472-64009094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64009095-64009716 Neighboring gene uncharacterized LOC105377121 Neighboring gene proteasome 26S subunit, non-ATPase 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Garden GA, et al. Cerebellum, 2008. PMID 18418675, Free PMC Article
    2. Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. van de Warrenburg BP, et al. J Neurol, 2001 Oct. PMID 11697534
    3. Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. Gu W, et al. Arch Neurol, 2000 Oct. PMID 11030806
    4. Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Giunti P, et al. Am J Hum Genet, 1999 Jun. PMID 10330346, Free PMC Article
    5. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Gouw LG, et al. Hum Mol Genet, 1998 Mar. PMID 9467013

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Other Names

    • ATXN7 repeat instability region
    • SCA7 repeat instability region
    • spinocerebellar ataxia type 7 repeat instability region

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051540.1 

      Range
      101..132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      63912685..63912716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      63956303..63956334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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