Skip to content
Use your HSA or FSA funds

Gene

TUBA1A

tubulin alpha 1a

Summary

Cytogenetic location
12q13.12
Coordinates
Chromosome 12: 49,184,795–49,189,080 (GRCh38)
Exons
4 exons across 4.3 kb
Protein
451 amino acids
Also known as
TUBA3, B-ALPHA-1, FLJ25113
MANE Select transcript
ENST00000301071.12NM_006009.4
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

  • Congenital Cranial Dysinnervation Disorders

    • Congenital Fibrosis of the Extraocular Muscles

      A group of conditions, caused by changes in genes such as KIF21A, TUBB3 and PHOX2A, in which eye movements are restricted and the eyelids often droop from birth.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      A genetic diagnosis explains the condition, can guide planning for eye-muscle and eyelid surgery and informs recurrence risk.

How TUBA1A 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 TUBA1A sits. TUBA1A and 31 genes near it on chromosome 12, from 48,686,938 to 49,686,937.Chromosome 1212q13.12p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3348.8 Mb49 Mb49.2 Mb49.4 Mb49.6 MbCCNT1: 48,687,601–48,716,998, reverse strandCCNT1SPMIP11: 48,727,435–48,765,790, forward strandSPMIP11ADCY6: 48,766,191–48,789,906, reverse strandADCY6CACNB3: 48,813,794–48,828,942, forward strandCACNB3DDX23: 48,829,756–48,852,842, reverse strandDDX23RND1: 48,857,134–48,865,870, reverse strandRND1ARF3: 48,903,141–48,957,531, reverse strandARF3: 48,903,503–48,957,365, reverse strandDRC2: 48,904,105–48,931,840, forward strandDRC2FKBP11: 48,921,518–48,927,909, reverse strandFKBP11WNT10B: 48,965,185–48,972,669, reverse strandWNT1: 48,978,322–48,982,620, forward strandWNT1DDN: 48,995,149–48,999,375, reverse strandDDNPRKAG1: 49,002,272–49,018,820, reverse strandPRKAG1: 49,002,274–49,024,075, reverse strandKMT2D: 49,018,975–49,060,794, reverse strandKMT2DRHEBL1: 49,064,675–49,070,127, reverse strandRHEBL1DHH: 49,086,656–49,094,807, reverse strandDHHLMBR1L: 49,096,550–49,110,900, reverse strandLMBR1LTUBA1B: 49,127,780–49,131,398, reverse strandTUBA1BTUBA1A: 49,184,795–49,189,080, reverse strandTUBA1ATUBA1C: 49,188,736–49,274,600, forward strandTUBA1CPRPH: 49,295,141–49,298,686, forward strandPRPHTROAP: 49,323,165–49,331,735, forward strandTROAPC1QL4: 49,332,409–49,337,227, reverse strandC1QL4DNAJC22: 49,345,607–49,357,546, forward strandDNAJC22SPATS2: 49,366,240–49,528,438, forward strandSPATS2KCNH3: 49,539,020–49,558,346, forward strandKCNH3MCRS1: 49,556,544–49,568,150, reverse strandMCRS1PRPF40B: 49,568,218–49,644,666, forward strandPRPF40BFAM186B: 49,582,885–49,605,639, reverse strandFAM186BFMNL3: 49,636,499–49,708,165, reverse strandFMNL3Diagram of TUBA1A: 4 exons on the reverse strand of chromosome 12Exon 4: 114 known disease-causing sitesExon 3: 17 known disease-causing sitesExon 2: 23 known disease-causing sitesExon 4: 49,184,795–49,185,990, 1,196 basesExon 3: 49,186,310–49,186,458, 149 basesExon 2: 49,186,611–49,186,833, 223 basesExon 1: 49,188,977–49,189,080, 104 bases43215′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 1.7 kb of the gene's 4.3 kb; 1,356 of those bases code for the protein.

How a genome test reads TUBA1A

155

positions in TUBA1A where ClinVar classes a change as pathogenic or likely pathogenic

154 of them (99%) fall in regions short reads find hard.

  • Low mappability (89 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (154 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 4.3 kb of TUBA1A, introns included, not only the 1.7 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.). TUBA1A gene: tubulin alpha 1a. Retrieved 17 October 2026, from https://dantelabs.com/genes/tuba1a

Vancouver

Dante Labs. TUBA1A gene: tubulin alpha 1a [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tuba1a

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test