MEGF10

MEGF10
Identifiers
Aliases	MEGF10, EMARDD, multiple EGF like domains 10, SR-F3
External IDs	OMIM: 612453; MGI: 2685177; HomoloGene: 23771; GeneCards: MEGF10; OMA:MEGF10 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q23.2 Start 127,290,796 bp[1] End 127,465,737 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18|18 D3 Start 57,266,162 bp[2] End 57,430,539 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus callosum ventricular zone external globus pallidus inferior ganglion of vagus nerve endothelial cell subthalamic nucleus internal globus pallidus Brodmann area 23 tibia pars reticulata Top expressed in otolith organ utricle trigeminal ganglion substantia nigra ventricular zone globus pallidus deep cerebellar nuclei lobe of cerebellum cerebellar vermis vestibular sensory epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function complement component C1q complex binding scavenger receptor activity Notch binding Cellular component integral component of membrane cell projection membrane phagocytic cup plasma membrane Biological process skeletal muscle satellite cell differentiation regulation of skeletal muscle tissue development homotypic cell-cell adhesion recognition of apoptotic cell muscle organ development skeletal muscle satellite cell activation cell adhesion muscle cell development regulation of muscle cell differentiation skeletal muscle satellite cell proliferation phagocytosis receptor-mediated endocytosis muscle cell proliferation engulfment of apoptotic cell myoblast migration apoptotic process involved in development apoptotic cell clearance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84466 70417 Ensembl ENSG00000145794 ENSMUSG00000024593 UniProt Q96KG7 Q6DIB5 RefSeq (mRNA) NM_001256545 NM_001308119 NM_001308121 NM_032446 NM_001001979 RefSeq (protein) NP_001243474 NP_001295048 NP_001295050 NP_115822 NP_001001979 Location (UCSC) Chr 5: 127.29 – 127.47 Mb Chr 18: 57.27 – 57.43 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Multiple EGF-like-domains 10 is a protein that in humans is encoded by the MEGF10 gene.[5]

MEGF10 is a regulator of satellite cell myogenesis and interacts with Notch1 in myoblasts.[6] It has been shown to be the cause of early-onset myopathy, areflexia, respiratory distress and dysphagia.[7]

MEGF10 and MEGF11, have critical roles in the formation of mosaics by two retinal interneuron subtypes, starburst amacrine cells and horizontal cells in mice. These cells are less likely to be near neighbours of the same subtype than would occur by chance, resulting in 'exclusion zones' that separate them. Mosaic arrangements provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000145794 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024593 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Multiple EGF-like-domains 10". Retrieved 2011-11-26.
6. Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels C, Cho KA, Pacak CA, Draper I, Kang PB (May 2017). "Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions". Human Molecular Genetics. 26 (15): 2984–3000. doi:10.1093/hmg/ddx189. PMC 6075367. PMID 28498977.
7. Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA (November 2011). "Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)". Nature Genetics. 43 (12): 1189–92. doi:10.1038/ng.995. PMID 22101682. S2CID 5536249.
8. Kay JN, Chu MW, Sanes JR (March 2012). "MEGF10 and MEGF11 mediate homotypic interactions required for mosaic spacing of retinal neurons". Nature. 483 (7390): 465–9. Bibcode:2012Natur.483..465K. doi:10.1038/nature10877. PMC 3310952. PMID 22407321.

Further reading

• Hamon Y, Trompier D, Ma Z, Venegas V, Pophillat M, Mignotte V, Zhou Z, Chimini G (December 2006). Insall R (ed.). "Cooperation between engulfment receptors: the case of ABCA1 and MEGF10". PLOS ONE. 1 (1): e120. Bibcode:2006PLoSO...1..120H. doi:10.1371/journal.pone.0000120. PMC 1762421. PMID 17205124.
• Suzuki E, Nakayama M (July 2007). "The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern". Experimental Cell Research. 313 (11): 2451–64. doi:10.1016/j.yexcr.2007.03.041. PMID 17498693.
• Suzuki E, Nakayama M (October 2007). "MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation". Experimental Cell Research. 313 (17): 3729–42. doi:10.1016/j.yexcr.2007.06.015. PMID 17643423.
• Chen X, Wang X, Chen Q, Williamson V, van den Oord E, Maher BS, O'Neill FA, Walsh D, Kendler KS (March 2008). "MEGF10 association with schizophrenia". Biological Psychiatry. 63 (5): 441–8. doi:10.1016/j.biopsych.2007.11.003. PMC 2268016. PMID 18179784.
• Kang S, Zhao J, Liu Q, Zhou R, Wang N, Li Y (June 2009). "Vascular endothelial growth factor gene polymorphisms are associated with the risk of developing adenomyosis". Environmental and Molecular Mutagenesis. 50 (5): 361–6. Bibcode:2009EnvMM..50..361K. doi:10.1002/em.20455. PMID 19197986. S2CID 27339435.
• Chen X, Sun C, Chen Q, O'Neill FA, Walsh D, Fanous AH, Chowdari KV, Nimgaonkar VL, Scott A, Schwab SG, Wildenauer DB, Che R, Tang W, Shi Y, He L, Luo XJ, Su B, Edwards TL, Zhao Z, Kendler KS (September 2009). Okazawa H (ed.). "Apoptotic engulfment pathway and schizophrenia". PLOS ONE. 4 (9): e6875. Bibcode:2009PLoSO...4.6875C. doi:10.1371/journal.pone.0006875. PMC 2731162. PMID 19721717.
• Yun L, Gu Y, Hou Y (April 2011). "No association between schizophrenia and rs27388 of the MEGF10 gene in Chinese case-control sample". Psychiatry Research. 186 (2–3): 467–8. doi:10.1016/j.psychres.2010.08.002. PMID 20813413. S2CID 207447640.
• Singh TD, Park SY, Bae JS, Yun Y, Bae YC, Park RW, Kim IS (September 2010). "MEGF10 functions as a receptor for the uptake of amyloid-β". FEBS Letters. 584 (18): 3936–42. doi:10.1016/j.febslet.2010.08.050. PMID 20828568. S2CID 45140034.

External links

• NCBI gene