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MET

Chr 7q31.2

MET proto-oncogene, receptor tyrosine kinase

Aliases:
HGFR, RCCP2, DFNB97
MANE:
ENST00000397752.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult solid tumours cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Adult solid tumours for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Arthrogryposis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited renal cancer

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Renal cancer pertinent cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

  • papillary renal cell carcinoma

    0.83
  • hereditary papillary renal cell carcinoma

    0.77
  • hepatocellular carcinoma

    0.76
  • renal cell carcinoma

    0.73
  • non-small cell lung carcinoma

    0.72
  • neoplasm

    0.63
  • medullary thyroid gland carcinoma

    0.59
  • listeriosis

    0.57
  • Inherited cancer-predisposing syndrome

    0.53
  • hereditary neoplastic syndrome

    0.53

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

Protein function (UniProt)

Hepatocyte growth factor receptor

Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1, SRC, GRB2, STAT3 or the adapter GAB1. Recruitment of these downstream effectors by MET leads to the activation of several signaling cascades including the RAS-ERK, PI3 kinase-AKT, or PLCgamma-PKC. The RAS-ERK activation is associated with the morphogenetic effects while PI3K/AKT coordinates prosurvival effects. During embryonic development, MET signaling plays a role in gastrulation, development and migration of neuronal precursors, angiogenesis and kidney formation. During skeletal muscle development, it is crucial for the migration of muscle progenitor cells and for the proliferation of secondary myoblasts (By similarity). In adults, participates in wound healing as well as organ regeneration and tissue remodeling. Also promotes differentiation and proliferation of hematopoietic cells. May regulate cortical bone osteogenesis (By similarity)

Curated MONDO disease pages that list MET 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.