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Gene

ATXN3

ataxin 3

Summary

Cytogenetic location
14q32.12
Coordinates
Chromosome 14: 92,058,552–92,106,582 (GRCh38)
Exons
11 exons across 48 kb
Protein
361 amino acids
Inheritance
Autosomal dominant
Also known as
ATX3, JOS
Previous symbols
SCA3, MJD
MANE Select transcript
ENST00000644486.2NM_004993.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ATXN3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where ATXN3 sits. ATXN3 and 8 genes near it on chromosome 14, from 91,582,567 to 92,582,566.Chromosome 1414q32.12p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3391.6 Mb91.8 Mb92 Mb92.2 Mb92.4 MbCATSPERB: 91,580,696–91,780,707, reverse strandCATSPERBTC2N: 91,779,746–91,867,536, reverse strandTC2NFBLN5: 91,869,410–91,948,064, reverse strandFBLN5TRIP11: 91,965,991–92,040,902, reverse strandTRIP11ATXN3: 92,058,552–92,106,582, reverse strandATXN3NDUFB1: 92,115,820–92,121,978, reverse strandNDUFB1CPSF2: 92,121,512–92,172,145, forward strandCPSF2SLC24A4: 92,322,581–92,501,481, forward strandSLC24A4RIN3: 92,513,433–92,688,994, forward strandRIN3Diagram of ATXN3: 11 exons on the reverse strand of chromosome 14Exon 10: 1 known disease-causing siteExon 11: 92,058,552–92,064,414, 5,863 basesExon 10: 92,070,935–92,071,053, 119 basesExon 9: 92,080,965–92,081,061, 97 basesExon 8: 92,082,300–92,082,466, 167 basesExon 7: 92,083,126–92,083,258, 133 basesExon 6: 92,088,730–92,088,817, 88 basesExon 5: 92,093,252–92,093,318, 67 basesExon 4: 92,093,746–92,093,831, 86 basesExon 3: 92,096,093–92,096,137, 45 basesExon 2: 92,096,674–92,096,838, 165 basesExon 1: 92,106,529–92,106,582, 54 bases1110864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.9 kb of the gene's 48 kb; 1,086 of those bases code for the protein.

How a genome test reads ATXN3

1

position in ATXN3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 48 kb of ATXN3, introns included, not only the 6.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ATXN3 gene: ataxin 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/atxn3

Vancouver

Dante Labs. ATXN3 gene: ataxin 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atxn3

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