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MEGF10

Summary

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

MEGF10
Identifiers
AliasesMEGF10, EMARDD, multiple EGF like domains 10, SR-F3
External IDsOMIM: 612453 MGI: 2685177 HomoloGene: 23771 GeneCards: MEGF10
Orthologs
SpeciesHumanMouse
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 MbChr 18: 57.27 – 57.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000145794 – Ensembl, May 2017
  2. ^ a b c 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 edit

  • 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 edit

  • NCBI gene