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    MEG3 maternally expressed 3 [ Homo sapiens (human) ]

    Gene ID: 55384, updated on 2-Nov-2024

    Summary

    Official Symbol
    MEG3provided by HGNC
    Official Full Name
    maternally expressed 3provided by HGNC
    Primary source
    HGNC:HGNC:14575
    See related
    Ensembl:ENSG00000214548 MIM:605636; AllianceGenome:HGNC:14575
    Gene type
    ncRNA
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GTL2; FP504; prebp1; PRO0518; PRO2160; LINC00023; NCRNA00023; onco-lncRNA-83
    Summary
    This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012]
    Expression
    Biased expression in placenta (RPKM 89.5), adrenal (RPKM 54.9) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MEG3 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100826108..100861026)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (95060996..95095916)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (101292445..101327363)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101200205-101200972 Neighboring gene delta like non-canonical Notch ligand 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:101221473-101222672 Neighboring gene Sharpr-MPRA regulatory region 10698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101251634-101252164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101272538-101273453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:101275541-101276109 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:101281498-101281998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101290055-101290755 Neighboring gene microRNA 2392 Neighboring gene NANOG hESC enhancer GRCh37_chr14:101296990-101297491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101305655-101306416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101306417-101307176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101321295-101321796 Neighboring gene microRNA 770 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33583 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33586 Neighboring gene microRNA 493 Neighboring gene microRNA 337

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-09-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-09-12)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog
    The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • Very putative protein from MEG3 locus
    • gene trap locus 2
    • long intergenic non-protein coding RNA 23
    • maternally expressed 3 (non-protein coding)

    Clone Names

    • FLJ31163, FLJ42589, FLJ44703

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dsDNA-RNA triple helix-forming chromatin adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in miRNA-mediated post-transcriptional gene silencing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of RISC complex IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016853.2 RefSeqGene

      Range
      51699..86617
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1098

    RNA

    1. NR_002766.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as MEG3) is the predominant transcript, consisting of seven exons.
      Source sequence(s)
      AL117190
      Related
      ENST00000451743.7
    2. NR_003530.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has two additional exons in an internal region, compared to variant 1.
      Source sequence(s)
      BQ270557, BX161452, DB449068
      Related
      ENST00000423456.6
    3. NR_003531.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as MEG3a) has an additional exon in an internal region, compared to variant 1.
      Source sequence(s)
      AB032607, AY314975
      Related
      ENST00000554639.6
    4. NR_033358.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an additional exon in an internal region, compared to variant 1.
      Source sequence(s)
      BQ270557, BX248012, DB449068
      Related
      ENST00000556736.6
    5. NR_033359.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in an internal region, compared to variant 1. It consists of eight exons.
      Source sequence(s)
      BQ270557, BX161432, DB449068
      Related
      ENST00000412736.7
    6. NR_033360.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as MEG3b) differs in an internal region, compared to variant 1. It consists of seven exons.
      Source sequence(s)
      BQ270557, BX247998, DB449068
      Related
      ENST00000429159.7
    7. NR_046464.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as MEG3c) differs in an internal region, compared to variant 1. It consists of eight exons.
      Source sequence(s)
      DB449068, GQ183495
    8. NR_046465.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as MEG3d) has an alternate site and is longer than variant 1.
      Source sequence(s)
      DB449068, GQ183496
      Related
      ENST00000648456.2
    9. NR_046466.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as MEG3e) lacks an internal exon, compared to variant 1.
      Source sequence(s)
      DB449068, GQ183497
      Related
      ENST00000521404.6
    10. NR_046467.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10, also known as MEG3f) has an additional segment and an additional exon in an internal region, compared to variant 1.
      Source sequence(s)
      DB449068, GQ183498
      Related
      ENST00000783976.1
    11. NR_046469.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12, also known as MEG3h) differs in an internal region, compared to variant 1. It consists of seven exons.
      Source sequence(s)
      DB449068, GQ183500
    12. NR_046470.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13, also known as MEG3i) differs in an internal region, compared to variant 1. It consists of eight exons.
      Source sequence(s)
      DB449068, GQ183501
    13. NR_046471.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14, also known as MEG3j) differs in an internal region, compared to variant 1. It consists of six exons.
      Source sequence(s)
      DB449068, GQ183502
      Related
      ENST00000783979.1
    14. NR_046472.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15, also known as MEG3k) differs in an internal region, compared to variant 1. It consists of seven exons.
      Source sequence(s)
      DB449068, GQ183503
      Related
      ENST00000783973.1
    15. NR_046473.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) has an alternate and very long 3' exon, compared to variant 1.
      Source sequence(s)
      AB032607, AF052114, AL117190, BQ613976, DB449068
    16. NR_190993.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL117190
      Related
      ENST00000649261.1
    17. NR_190994.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL117190
    18. NR_190995.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL117190
    19. NR_190996.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL117190

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      100826108..100861026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      95060996..95095916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018514.1: Suppressed sequence

      Description
      NM_018514.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    2. NR_046468.2: Suppressed sequence

      Description
      NR_046468.2: This RefSeq was removed because it is redundant with another reference sequence transcript.