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

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. ^ 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

External links


Categories