MERTK

Chr 2AR

MER proto-oncogene, tyrosine kinase

Also known as: MER, RP38, Tyro12, c-Eyk, c-mer

NCBI Gene: 10461 ENSG00000153208 UniProt: Q12866 OMIM: 604705

MERTK encodes a receptor tyrosine kinase that regulates phagocytosis of apoptotic cells and is essential for rod outer segment phagocytosis in the retinal pigment epithelium. Mutations cause autosomal recessive retinitis pigmentosa 38, a progressive retinal degeneration leading to vision loss. The gene is not highly constrained against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 38MIM #613862

Clinical highlights

Gene-disease validity (ClinGen)

MERTK-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

347

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.75

LOEUF

LOF

Mechanism· G2P

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