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    MDFIC2 MyoD family inhibitor domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 107986096, updated on 14-Mar-2024

    Summary

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    Official Symbol
    MDFIC2provided by HGNC
    Official Full Name
    MyoD family inhibitor domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:53442
    See related
    Ensembl:ENSG00000242120 AllianceGenome:HGNC:53442
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    Location:
    3p13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (70194479..70312638, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (70231398..70349463, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (70243630..70361789, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene survival associated mitochondrial melanoma specific oncogenic non-coding RNA Neighboring gene RNA binding region (RNP1, RRM) containing 3 pseudogene 1 Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 3399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:70339867-70340366 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:70372036-70373235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20058 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:70581776-70582725 Neighboring gene uncharacterized LOC105377152 Neighboring gene Sharpr-MPRA regulatory region 8579 Neighboring gene Sharpr-MPRA regulatory region 3883 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cross-talk between the glucocorticoid receptor and MyoD family inhibitor domain-containing protein provides a new mechanism for generating tissue-specific responses to glucocorticoids. Oakley RH, et al. J Biol Chem, 2017 Apr 7. PMID 28223352, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    Genotypes

    General gene information

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    Homology

    General protein information

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    Preferred Names
    myoD family inhibitor domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001364676.1 → NP_001351605.1  myoD family inhibitor domain-containing protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC134025, KC470082
      Conserved Domains (1) summary
      pfam15316
      Location:60 → 201
      MDFI; MyoD family inhibitor

    2. NM_001364677.1 → NP_001351606.1  myoD family inhibitor domain-containing protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC134025
      Consensus CDS
      CCDS93309.1
      UniProtKB/Swiss-Prot
      A0A0U1T9V0, A0A0U1WUY1, A0A1B0GVS7
      Related
      ENSP00000490638.1, ENST00000567252.2
      Conserved Domains (1) summary
      pfam15316
      Location:47 → 188
      MDFI; MyoD family inhibitor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      70194479..70312638 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      70231398..70349463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GVS7.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GVS7

    Gene LinkOut

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