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LOC109504725 androgen receptor repeat instability region [ Homo sapiens (human) ]

Gene ID: 109504725, updated on 10-Oct-2023

Summary

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Gene symbol
LOC109504725
Gene description
androgen receptor 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' region of the androgen receptor gene on the q arm of the X chromosome, 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 spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease). This is a highly polymorphic region, with up to 34 repeats in unaffected individuals, reduced penetrance with 36-37 repeats, while the disease phenotype can be observed with 37 or more repeats. Expanded alleles exhibit instability, with greater instability observed during male transmissions. In many cases, there is a direct correlation between CAG repeat number and severity of disease, and in inverse relationship with age of disease onset and repeat number. Exceptions to this have been noted, and CAG repeat number does not account for all of the observed phenotypic variation. [provided by RefSeq, Jan 2017]
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Genomic context

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See LOC109504725 in Genome Data Viewer
Location:
Xq12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (67545317..67545419)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (65975148..65975250)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (66765159..66765261)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 681 pseudogene Neighboring gene poly(A) binding protein nuclear 1 pseudogene Neighboring gene androgen receptor Neighboring gene Sharpr-MPRA regulatory region 14511 Neighboring gene negative expression of androgen receptor regulating lncRNA Neighboring gene BMI1 proto-oncogene, polycomb ring finger pseudogene 1

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. Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy. Pennuto M, et al. J Mol Neurosci, 2016 Mar. PMID 26875173
  2. Epigenetics and Triplet-Repeat Neurological Diseases. Nageshwaran S, et al. Front Neurol, 2015. PMID 26733936, Free PMC Article
  3. Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat. Grunseich C, et al. Neuromuscul Disord, 2014 Nov. PMID 25047668, Free PMC Article
  4. Repeat expansion disease: progress and puzzles in disease pathogenesis. La Spada AR, et al. Nat Rev Genet, 2010 Apr. PMID 20177426, Free PMC Article
  5. CAG repeat size correlates to electrophysiological motor and sensory phenotypes in SBMA. Suzuki K, et al. Brain, 2008 Jan. PMID 18056738

See all (62) 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

  • AR repeat instability region
  • SBMA repeat instability region
  • spinal and bulbar muscular atrophy 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_052629.1 

    Range
    101..203
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    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    67545317..67545419
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    65975148..65975250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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