| Entrez gene ID | | 55384 |
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| Official gene symbol | | MEG3 |
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| Full name | | maternally expressed 3 (non-protein coding) |
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| Aliases | | ,FLJ31163,FLJ42589,FP504,GTL2,NCRNA00023,PRO0518,PRO2160,prebp1, |
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| Gene summary | | MEG3 is a maternally expressed imprinted gene which appears to function as an RNA molecule; multiple splice variants are observed in the available sequence data and a pituitary transcript variant has been associated with inhibited cell proliferation. Studies in mouse and sheep suggest that an upstream intergenic differentially methylated region regulates imprinting of the region. The expression profile in mouse of the co-regulated Meg3/Gtl2 and Dlk1 genes suggests a causative role in the pathologies found in uniparental disomy animals, characterized by defects in skeletal muscle maturation, bone formation, placenta size and organization, and prenatal lethality. The sheep homolog is associated with the callipyge mutation which in heterozygous individuals affects a muscle-specific long-range control element located in the DLK1-GTL2 intergenic region and results in the callipyge muscular hypertrophy. The non-Mendelian inheritance pattern, known as polar overdominance, likely results from the combination of the cis-effect on the expression levels of genes in the DLK1-GTL2 imprinted domain, and trans interaction between the products of reciprocally imprinted genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq] |
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| Location | | Chromosome: 14 Locus: 14q32 |
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| Gene position | | 101292445 - 101327363 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 34919 bp |
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| Gene sequence |
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| OMIM ID | | 605636 |
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