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MERTK

Chr 2q13

MER proto-oncogene, tyrosine kinase

Aliases:
mer, RP38, c-Eyk, Tyro12
MANE:
ENST00000295408.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.80
  • Retinal dystrophy

    0.57
  • autosomal recessive retinitis pigmentosa

    0.52
  • dengue disease

    0.50
  • hereditary disease

    0.42
  • Leber congenital amaurosis

    0.39
  • Posterior column ataxia - retinitis pigmentosa

    0.38
  • retinal disorder

    0.38
  • eye disorder

    0.37
  • atrial fibrillation

    0.36

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

Protein function (UniProt)

Tyrosine-protein kinase Mer

Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment (PubMed:32640697). Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Also plays an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3

Curated MONDO disease pages that list MERTK 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.