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Gene

TOR1A

torsin family 1 member A

Summary

Cytogenetic location
9q34.11
Coordinates
Chromosome 9: 129,812,942–129,824,136 (GRCh38)
Exons
5 exons across 11.2 kb
Protein
332 amino acids
Also known as
DQ2
Previous symbols
DYT1
MANE Select transcript
ENST00000351698.5NM_000113.3
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

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 4 GenCC submitters rate it definitive or strong

How TOR1A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where TOR1A sits. TOR1A and 12 genes near it on chromosome 9, from 129,318,539 to 130,318,538.Chromosome 99q34.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3129.4 Mb129.6 Mb129.8 Mb130 Mb130.2 MbNTMT1: 129,587,810–129,636,744, forward strandNTMT1C9orf50: 129,612,225–129,621,101, reverse strandC9orf50ASB6: 129,634,601–129,642,363, reverse strandASB6PRRX2: 129,665,524–129,722,674, forward strandPRRX2PTGES: 129,738,331–129,753,078, reverse strandPTGESTOR1B: 129,803,131–129,813,640, forward strandTOR1BTOR1A: 129,812,942–129,824,136, reverse strandTOR1AC9orf78: 129,827,194–129,835,863, reverse strandC9orf78USP20: 129,834,698–129,881,842, forward strandUSP20FNBP1: 129,887,179–130,043,243, reverse strandFNBP1GPR107: 130,053,426–130,140,169, forward strandGPR107NCS1: 130,172,315–130,237,737, forward strandNCS1HMCN2: 130,265,746–130,434,123, forward strandHMCN2Diagram of TOR1A: 5 exons on the reverse strand of chromosome 9Exon 5: 6 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 5: 129,812,942–129,814,222, 1,281 basesExon 4: 129,818,520–129,818,647, 128 basesExon 3: 129,818,745–129,818,920, 176 basesExon 2: 129,822,581–129,822,846, 266 basesExon 1: 129,823,908–129,824,136, 229 bases543215′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 2.1 kb of the gene's 11.2 kb; 999 of those bases code for the protein.

How a genome test reads TOR1A

13

positions in TOR1A 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 11.2 kb of TOR1A, introns included, not only the 2.1 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.). TOR1A gene: torsin family 1 member A. Retrieved 17 October 2026, from https://dantelabs.com/genes/tor1a

Vancouver

Dante Labs. TOR1A gene: torsin family 1 member A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tor1a

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