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TUBA4A

Chr 2q35

tubulin alpha 4a

Aliases:
FLJ30169, H2-ALPHA
MANE:
ENST00000248437.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Amyotrophic lateral sclerosis/motor neuron disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary ataxia with onset in adulthood

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Bleeding and platelet disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Congenital myopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Cytopenia - NOT Fanconi anaemia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • amyotrophic lateral sclerosis

    0.78
  • amyotrophic lateral sclerosis type 22

    0.70
  • breast cancer

    0.61
  • non-small cell lung carcinoma

    0.61
  • breast carcinoma

    0.60
  • prostate cancer

    0.59
  • neoplasm

    0.59
  • breast neoplasm

    0.59
  • Hodgkins lymphoma

    0.59
  • gout

    0.59

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tubulin alpha-4A chain

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin

Curated MONDO disease pages that list TUBA4A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.