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

Gene ID: 108660406, updated on 4-Mar-2025

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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63912685..63912716)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63956303..63956334)
RS_2024_09 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 PSMD6 antisense RNA 1 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 and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). David G, et al. Hum Mol Genet, 1998 Feb. PMID 9425222
  2. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Garden GA, et al. Cerebellum, 2008. PMID 18418675, Free PMC Article
  3. 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
  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. Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds. Gu W, et al. Arch Neurol, 2000 Oct. PMID 11030806

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
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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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