C-Mer Proto Oncogene Tyrosine Kinase (MERTK)

MER; c-Mer; RP38

SPN	S508
HGNC	7027
MGI	96965
RGD	69283
UniProt	Q12866

Proto-oncogene tyrosine-protein kinase MER 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).Defects in MERTK are a cause of retinitis pigmentosa (RP) . RP that leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Reference

"Cloning and mRNA expression analysis of a novel human protooncogene, c-mer."
Cell Growth Differ. 5:647-657(1994) [PubMed] [Europe PMC] [Abstract]

Erratum
Cell Growth Differ. 5:1022-1022(1994)

"Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa."
Nat. Genet. 26:270-271(2000) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"Identification of the major autophosphorylation sites of Nyk/Mer, an NCAM-related receptor tyrosine kinase."
J. Biol. Chem. 271:18355-18362(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of Gas6 as a ligand for Mer, a neural cell adhesion molecule related receptor tyrosine kinase implicated in cellular transformation."
Oncogene 14:2033-2039(1997) [PubMed] [Europe PMC] [Abstract]

"An SH2 domain-dependent, phosphotyrosine-independent interaction between Vav1 and the Mer receptor tyrosine kinase: a mechanism for localizing guanine nucleotide-exchange factor action."
J. Biol. Chem. 278:42596-42603(2003) [PubMed] [Europe PMC] [Abstract]

"Activated tyrosine kinase Ack1 promotes prostate tumorigenesis: role of Ack1 in polyubiquitination of tumor suppressor Wwox."
Cancer Res. 65:10514-10523(2005) [PubMed] [Europe PMC] [Abstract]

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J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Signalling and functional diversity within the Axl subfamily of receptor tyrosine kinases."
Cytokine Growth Factor Rev. 17:295-304(2006) [PubMed] [Europe PMC] [Abstract]

"Tyro3 family-mediated cell entry of Ebola and Marburg viruses."
J. Virol. 80:10109-10116(2006) [PubMed] [Europe PMC] [Abstract]

"Immunobiology of the TAM receptors."
Nat. Rev. Immunol. 8:327-336(2008) [PubMed] [Europe PMC] [Abstract]

"Large-scale proteomics analysis of the human kinome."
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]

"Galectin-3 is a new MerTK-specific eat-me signal."
J. Cell. Physiol. 227:401-407(2012) [PubMed] [Europe PMC] [Abstract]

"Solution structures of the FN3 domain of human proto-oncogene tyrosine-protein kinase MER precursor."
Submitted (DEC-2006) to the PDB data bank

"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]

"Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]