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TUBB4B

Chr 9q34.3

tubulin beta 4B class IVb

Aliases:
Beta2
MANE:
ENST00000340384.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Respiratory ciliopathies including non-CF bronchiectasis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Retinal disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Leber congenital amaurosis with early-onset deafness

    0.65
  • non-small cell lung carcinoma

    0.62
  • breast cancer

    0.61
  • breast carcinoma

    0.60
  • neoplasm

    0.60
  • prostate cancer

    0.59
  • Hodgkins lymphoma

    0.59
  • breast neoplasm

    0.59
  • gout

    0.59
  • plasma cell myeloma

    0.58

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

Protein function (UniProt)

Tubulin beta-4B 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 TUBB4B 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.