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GenoLensGenoLens

MYO15A

Chr 17p11.2

myosin XVA

MANE:
ENST00000647165.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.72
  • deafness

    0.66
  • nonsyndromic genetic hearing loss

    0.64
  • Rare genetic deafness

    0.56
  • Hearing impairment

    0.54
  • hereditary disease

    0.53
  • Abnormality of the ear

    0.51
  • ear malformation

    0.49
  • Intellectual disability

    0.43
  • Congenital sensorineural hearing impairment

    0.42

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

Protein function (UniProt)

Unconventional myosin-XV

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity)

Curated MONDO disease pages that list MYO15A 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.