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MYO18B

Chr 22q12.1

myosin XVIIIB

Aliases:
BK125H2.1
MANE:
ENST00000335473.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

    0.79
  • atrial fibrillation

    0.56
  • hereditary disease

    0.45
  • Brugada syndrome

    0.43
  • mathematical ability

    0.42
  • nemaline myopathy

    0.35
  • septic shock

    0.29
  • immune system disorder

    0.29
  • Cervical C2/C3 vertebral fusion

    0.27
  • Klippel-Feil syndrome

    0.27

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

Protein function (UniProt)

Unconventional myosin-XVIIIb

May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth

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.