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Gene

TUBB3

tubulin beta 3 class III

Summary

Cytogenetic location
16q24.3
Coordinates
Chromosome 16: 89,923,342–89,936,097 (GRCh38)
Exons
4 exons across 12.8 kb
Protein
450 amino acids
Also known as
beta-4, CFEOM3, CFEOM3A
Previous symbols
FEOM3
MANE Select transcript
ENST00000315491.12NM_006086.4
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.

      • 4 GenCC submitters rate 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 TUBB3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where TUBB3 sits. TUBB3 and 20 genes near it on chromosome 16, from 89,429,720 to 90,429,719.Chromosome 1616q24.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.389.6 Mb89.8 Mb90 Mb90.2 Mb90.4 MbANKRD11: 89,267,619–89,490,706, reverse strandANKRD11SPG7: 89,490,719–89,557,768, forward strandSPG7RPL13: 89,560,637–89,567,834, forward strandRPL13CPNE7: 89,575,730–89,597,247, forward strandCPNE7DPEP1: 89,613,308–89,638,456, forward strandDPEP1CHMP1A: 89,640,816–89,657,738, reverse strandCHMP1ASPATA33: 89,657,740–89,671,287, forward strandSPATA33CDK10: 89,680,737–89,696,372, forward strandCDK10SPATA2L: 89,696,357–89,701,733, reverse strandSPATA2LVPS9D1: 89,707,128–89,721,879, reverse strandVPS9D1ZNF276: 89,720,400–89,740,925, forward strandZNF276FANCA: 89,726,683–89,816,977, reverse strandFANCASPIRE2: 89,818,179–89,871,320, forward strandSPIRE2TCF25: 89,873,214–89,913,627, forward strandTCF25MC1R: 89,912,119–89,920,977, forward strandMC1R: 89,919,165–89,936,092, forward strandTUBB3: 89,923,342–89,936,097, forward strandTUBB3DEF8: 89,948,014–89,968,079, forward strandDEF8DBNDD1: 90,004,648–90,019,890, reverse strandDBNDD1DRC4: 90,019,629–90,045,369, forward strandDRC4PRDM7: 90,056,566–90,092,072, reverse strandPRDM7Diagram of TUBB3: 4 exons on the forward strand of chromosome 16Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 28 known disease-causing sitesExon 1: 89,923,342–89,923,458, 117 basesExon 2: 89,932,571–89,932,679, 109 basesExon 3: 89,933,468–89,933,578, 111 basesExon 4: 89,934,729–89,936,097, 1,369 bases12345′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 12.8 kb; 1,353 of those bases code for the protein.

How a genome test reads TUBB3

33

positions in TUBB3 where ClinVar classes a change as pathogenic or likely pathogenic

28 of them (85%) fall in regions short reads find hard.

  • Low mappability (4 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (28 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 12.8 kb of TUBB3, 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.). TUBB3 gene: tubulin beta 3 class III. Retrieved 16 October 2026, from https://dantelabs.com/genes/tubb3

Vancouver

Dante Labs. TUBB3 gene: tubulin beta 3 class III [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tubb3

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