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Gene

TUBB4A

tubulin beta 4A class IVa

Summary

Cytogenetic location
19p13.3
Coordinates
Chromosome 19: 6,494,319–6,502,309 (GRCh38)
Exons
4 exons across 8 kb
Protein
444 amino acids
Inheritance
Autosomal dominant
Also known as
beta-5
Previous symbols
TUBB4, DYT4
MANE Select transcript
ENST00000264071.7NM_006087.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports 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.

      • 3 GenCC submitters rate it definitive or strong

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC, TUBB4A)Autosomal dominant

      Usually new changes in TUBB4A cause hypomyelination with movement problems such as dystonia, stiffness and ataxia, beginning in infancy or early childhood.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

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

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

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 TUBB4A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where TUBB4A sits. TUBB4A and 22 genes near it on chromosome 19, from 5,998,314 to 6,998,313.Chromosome 1919p13.3p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.436 Mb6.2 Mb6.4 Mb6.6 Mb6.8 MbRFX2: 5,993,164–6,199,572, reverse strandRFX2ACSBG2: 6,135,247–6,193,094, forward strandACSBG2MLLT1: 6,210,377–6,280,029, reverse strandMLLT1ACER1: 6,306,030–6,333,612, reverse strandACER1CLPP: 6,361,427–6,370,242, forward strandCLPPALKBH7: 6,372,715–6,377,261, forward strandALKBH7PSPN: 6,375,148–6,379,058, reverse strandPSPNGTF2F1: 6,379,545–6,393,981, reverse strandGTF2F1KHSRP: 6,413,102–6,424,824, reverse strandSLC25A41: 6,426,037–6,433,779, reverse strandSLC25A23: 6,436,068–6,465,203, reverse strandSLC25A23CRB3: 6,463,777–6,467,239, forward strandCRB3DENND1C: 6,467,207–6,482,557, reverse strandDENND1CTUBB4A: 6,494,319–6,502,309, reverse strandTUBB4ATNFSF9: 6,530,985–6,535,926, forward strandTNFSF9CD70: 6,583,183–6,604,103, reverse strandCD70TNFSF14: 6,658,085–6,670,621, reverse strandTNFSF14C3: 6,677,704–6,730,562, reverse strandC3GPR108: 6,729,914–6,737,665, reverse strandGPR108TRIP10: 6,737,925–6,751,530, forward strandTRIP10SH2D3A: 6,751,899–6,768,109, reverse strandSH2D3AVAV1: 6,772,676–6,857,366, forward strandVAV1ADGRE1: 6,887,530–6,940,459, forward strandADGRE1Diagram of TUBB4A: 4 exons on the reverse strand of chromosome 19Exon 4: 31 known disease-causing sitesExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 4: 6,494,319–6,496,221, 1,903 basesExon 3: 6,501,287–6,501,397, 111 basesExon 2: 6,501,515–6,501,623, 109 basesExon 1: 6,502,156–6,502,309, 154 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 2.3 kb of the gene's 8 kb; 1,335 of those bases code for the protein.

How a genome test reads TUBB4A

33

positions in TUBB4A where ClinVar classes a change as pathogenic or likely pathogenic

31 of them (94%) fall in regions short reads find hard.

  • Low mappability (6 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (31 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 8 kb of TUBB4A, introns included, not only the 2.3 kb of exons.

Genes linked to the same conditions

Traits linked to TUBB4A

The Human Phenotype Ontology lists these as features of the rare conditions TUBB4A can cause. Each trait's page lists the other genes linked to it.

External links

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.). TUBB4A gene: tubulin beta 4A class IVa. Retrieved 17 October 2026, from https://dantelabs.com/genes/tubb4a

Vancouver

Dante Labs. TUBB4A gene: tubulin beta 4A class IVa [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tubb4a

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