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MYO7A

Chr 11q13.5

myosin VIIA

Aliases:
NSRD2
MANE:
ENST00000409709.9
OMIM: 276903 ↗NCBI: 4647 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Monogenic hearing loss

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Glaucoma (developmental)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

  • Primary ciliary disorders

  • Rare multisystem ciliopathy disorders

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Disease associations (Open Targets)

  • Usher syndrome type 1B

    0.83

  • autosomal recessive nonsyndromic hearing loss 2

    0.79

  • Usher syndrome

    0.79

  • autosomal dominant nonsyndromic hearing loss 11

    0.77

  • deafness

    0.74

  • Usher syndrome type 1

    0.72

  • hearing loss, autosomal recessive

    0.66

  • nonsyndromic genetic hearing loss

    0.60

  • Retinal dystrophy

    0.57

  • Rare genetic deafness

    0.57

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

Protein function (UniProt)

Unconventional myosin-VIIa

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing

Diseases associated with MYO7A

Curated MONDO disease pages that list MYO7A 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.