LOC108663987 ataxin 3 repeat instability region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108663987
Gene description: ataxin 3 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 3' coding region of the ataxin 3 (ATXN3) gene on the q arm of chromosome 14, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein. Expansions are known to be a cause of spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD) an autosomal dominant disorder. There is allelic variation at this locus, with most non-disease alleles containing 12-44 CAG repeats, with the majority of individuals having less than 31 CAG repeats. Affected individuals typically have about 60-87 repeats. There is an inverse correlation between the number of repeats and age of disease onset. [provided by RefSeq, Jan 2017]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (92071011..92071052)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (86300562..86300603)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (92537355..92537396)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

ATXN3 repeat instability region
Machado-Joseph repeat instability region
SCA3 repeat instability region
spinocerebellar ataxia type 3 repeat instability region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.