MERTK

Proto-oncogene tyrosine-protein kinase MER is an enzyme that in humans is encoded by the MERTK gene.

MERTK
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DBJ, 2P0C, 3BPR, 3BRB, 3TCP, 4M3Q, 4MH7, 4MHA
Identifiers
Aliases	MERTK, MER, RP38, c-mer, Tyro12, c-Eyk, MER proto-oncogene, tyrosine kinase
External IDs	OMIM: 604705; MGI: 96965; HomoloGene: 4626; GeneCards: MERTK; OMA:MERTK - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q13 Start 111,898,607 bp End 112,029,561 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F1 Start 128,540,876 bp End 128,644,814 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex gastric mucosa left adrenal gland left adrenal cortex popliteal artery tibial arteries Descending thoracic aorta ascending aorta left coronary artery spleen Top expressed in stroma of bone marrow tunica media of zone of aorta retinal pigment epithelium jejunum ascending aorta ileum body of femur spleen duodenum right kidney More reference expression data BioGPS n/a
Gene ontology Molecular function ATP binding protein tyrosine kinase activity protein kinase activity protein binding transmembrane receptor protein tyrosine kinase activity kinase activity nucleotide binding transferase activity receptor tyrosine kinase transmembrane signaling receptor activity Wnt-protein binding Cellular component integral component of membrane photoreceptor outer segment rhabdomere membrane integral component of plasma membrane plasma membrane cytoplasm extracellular space receptor complex Biological process spermatogenesis vagina development protein kinase B signaling natural killer cell differentiation cell surface receptor signaling pathway protein phosphorylation platelet activation cell-cell signaling positive regulation of phagocytosis apoptotic cell clearance substrate adhesion-dependent cell spreading leukocyte migration negative regulation of lymphocyte activation phosphorylation retina development in camera-type eye negative regulation of leukocyte apoptotic process phagocytosis secretion by cell peptidyl-tyrosine phosphorylation negative regulation of cytokine production neutrophil clearance negative regulation of signal transduction Wnt signaling pathway cell differentiation negative regulation of apoptotic process positive regulation of ERK1 and ERK2 cascade transmembrane receptor protein tyrosine kinase signaling pathway nervous system development cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10461 17289 Ensembl ENSG00000153208 ENSMUSG00000014361 UniProt Q12866 Q60805 RefSeq (mRNA) NM_006343 NM_008587 RefSeq (protein) NP_006334 NP_032613 Location (UCSC) Chr 2: 111.9 – 112.03 Mb Chr 2: 128.54 – 128.64 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene is a member of the TYRO3/AXL/MER (TAM) 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).

Further reading

• Iwase T, Tanaka M, Suzuki M, Naito Y, Sugimura H, Kino I (July 1993). "Identification of protein-tyrosine kinase genes preferentially expressed in embryo stomach and gastric cancer". Biochemical and Biophysical Research Communications. 194 (2): 698–705. doi:10.1006/bbrc.1993.1878. hdl:10271/1029. PMID 7688222. S2CID 45988423.
• Mark MR, Chen J, Hammonds RG, Sadick M, Godowsk PJ (April 1996). "Characterization of Gas6, a member of the superfamily of G domain-containing proteins, as a ligand for Rse and Axl". The Journal of Biological Chemistry. 271 (16): 9785–9. doi:10.1074/jbc.271.16.9785. PMID 8621659.
• Ling L, Templeton D, Kung HJ (August 1996). "Identification of the major autophosphorylation sites of Nyk/Mer, an NCAM-related receptor tyrosine kinase". The Journal of Biological Chemistry. 271 (31): 18355–62. doi:10.1074/jbc.271.31.18355. PMID 8702477.
• Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Nagata K, Ohashi K, Nakano T, Arita H, Zong C, Hanafusa H, Mizuno K (November 1996). "Identification of the product of growth arrest-specific gene 6 as a common ligand for Axl, Sky, and Mer receptor tyrosine kinases". The Journal of Biological Chemistry. 271 (47): 30022–7. doi:10.1074/jbc.271.47.30022. PMID 8939948.
• Georgescu MM, Kirsch KH, Shishido T, Zong C, Hanafusa H (February 1999). "Biological effects of c-Mer receptor tyrosine kinase in hematopoietic cells depend on the Grb2 binding site in the receptor and activation of NF-kappaB". Molecular and Cellular Biology. 19 (2): 1171–81. doi:10.1128/mcb.19.2.1171. PMC 116046. PMID 9891051.
• Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D (November 2000). "Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa". Nature Genetics. 26 (3): 270–1. doi:10.1038/81555. PMID 11062461. S2CID 2812292.
• Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A (January 2002). "Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively". American Journal of Human Genetics. 70 (1): 224–9. doi:10.1086/338455. PMC 384890. PMID 11727200.
• Yin JL, Hambly BD, Bao SS, Painter D, Bishop GA, Eris JM (September 2003). "Expression of growth arrest-specific gene 6 and its receptors in dysfunctional human renal allografts". Transplant International. 16 (9): 681–8. doi:10.1007/s00147-003-0593-3. PMID 12768229. S2CID 13419387.
• McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA (May 2004). "MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells". Investigative Ophthalmology & Visual Science. 45 (5): 1456–63. doi:10.1167/iovs.03-0909. PMID 15111602.
• Chen C, Li Q, Darrow AL, Wang Y, Derian CK, Yang J, de Garavilla L, Andrade-Gordon P, Damiano BP (June 2004). "Mer receptor tyrosine kinase signaling participates in platelet function". Arteriosclerosis, Thrombosis, and Vascular Biology. 24 (6): 1118–23. doi:10.1161/01.ATV.0000130662.30537.08. PMID 15130911.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
• Li Y, Mahajan NP, Webster-Cyriaque J, Bhende P, Hong GK, Earp HS, Kenney S (November 2004). "The C-mer gene is induced by Epstein-Barr virus immediate-early protein BRLF1". Journal of Virology. 78 (21): 11778–85. doi:10.1128/JVI.78.21.11778-11785.2004. PMC 523243. PMID 15479819.
• Gould WR, Baxi SM, Schroeder R, Peng YW, Leadley RJ, Peterson JT, Perrin LA (April 2005). "Gas6 receptors Axl, Sky and Mer enhance platelet activation and regulate thrombotic responses". Journal of Thrombosis and Haemostasis. 3 (4): 733–41. doi:10.1111/j.1538-7836.2005.01186.x. PMID 15733062. S2CID 20373626.
• Liu T, Qian WJ, Gritsenko MA, Camp DG, Monroe ME, Moore RJ, Smith RD (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". Journal of Proteome Research. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
• Graham DK, Salzberg DB, Kurtzberg J, Sather S, Matsushima GK, Keating AK, Liang X, Lovell MA, Williams SA, Dawson TL, Schell MJ, Anwar AA, Snodgrass HR, Earp HS (May 2006). "Ectopic expression of the proto-oncogene Mer in pediatric T-cell acute lymphoblastic leukemia". Clinical Cancer Research. 12 (9): 2662–9. doi:10.1158/1078-0432.CCR-05-2208. PMID 16675557.
• Tada A, Wada Y, Sato H, Itabashi T, Kawamura M, Tamai M, Nishida K (May 2006). "Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa". Molecular Vision. 12: 441–4. PMID 16710167.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
• Overview of all the structural information available in the PDB for UniProt: Q12866 (Tyrosine-protein kinase Mer) at the PDBe-KB.