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Gene

ATXN2

ataxin 2

Summary

Cytogenetic location
12q24.12
Coordinates
Chromosome 12: 111,452,214–111,599,315 (GRCh38)
Exons
25 exons across 147.1 kb
Protein
1,155 amino acids
Inheritance
Autosomal dominant
Also known as
ATX2
Previous symbols
SCA2, TNRC13
MANE Select transcript
ENST00000673436.1NM_001372574.1
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.

      • ClinGen rates the link definitive
      • 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 ATXN2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where ATXN2 sits. ATXN2 and 11 genes near it on chromosome 12, from 111,025,765 to 112,025,764.Chromosome 1212q24.12p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33111.2 Mb111.4 Mb111.6 Mb111.8 Mb112 MbCUX2: 111,033,723–111,350,554, forward strandCUX2PHETA1: 111,360,651–111,369,173, reverse strandPHETA1SH2B3: 111,404,986–111,451,623, forward strandSH2B3ATXN2: 111,452,214–111,599,315, reverse strandATXN2BRAP: 111,642,145–111,686,005, reverse strandBRAPACAD10: 111,686,037–111,757,145, forward strandACAD10: 111,753,890–111,791,418, forward strandALDH2: 111,766,887–111,817,532, forward strandALDH2MAPKAPK5: 111,841,998–111,902,222, forward strandMAPKAPK5: 111,842,237–111,842,368, forward strandTMEM116: 111,893,714–112,014,271, reverse strandTMEM116ERP29: 112,012,815–112,026,066, forward strandERP29Diagram of ATXN2: 25 exons on the reverse strand of chromosome 12Exon 1: 2 known disease-causing sitesExon 25: 111,452,214–111,452,840, 627 basesExon 24: 111,453,677–111,453,845, 169 basesExon 23: 111,456,029–111,456,256, 228 basesExon 22: 111,457,214–111,457,359, 146 basesExon 21: 111,464,662–111,464,715, 54 basesExon 20: 111,470,108–111,470,240, 133 basesExon 19: 111,470,558–111,470,742, 185 basesExon 18: 111,485,265–111,485,331, 67 basesExon 17: 111,485,713–111,485,865, 153 basesExon 16: 111,486,761–111,486,824, 64 basesExon 15: 111,488,476–111,488,780, 305 basesExon 14: 111,509,549–111,509,619, 71 basesExon 13: 111,509,891–111,509,998, 108 basesExon 12: 111,510,385–111,510,582, 198 basesExon 11: 111,513,357–111,513,539, 183 basesExon 10: 111,516,154–111,516,363, 210 basesExon 9: 111,518,249–111,518,427, 179 basesExon 8: 111,519,879–111,520,076, 198 basesExon 7: 111,520,882–111,520,973, 92 basesExon 6: 111,525,192–111,525,316, 125 basesExon 5: 111,552,280–111,552,430, 151 basesExon 4: 111,552,906–111,552,977, 72 basesExon 3: 111,554,158–111,554,217, 60 basesExon 2: 111,555,883–111,555,919, 37 basesExon 1: 111,598,784–111,599,315, 532 bases25201510515′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 4.3 kb of the gene's 147.1 kb; 3,468 of those bases code for the protein.

How a genome test reads ATXN2

2

positions in ATXN2 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 147.1 kb of ATXN2, introns included, not only the 4.3 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.). ATXN2 gene: ataxin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/atxn2

Vancouver

Dante Labs. ATXN2 gene: ataxin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/atxn2

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