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    HYMAI hydatidiform mole associated and imprinted [ Homo sapiens (human) ]

    Gene ID: 57061, updated on 11-Jun-2021

    Summary

    Official Symbol
    HYMAIprovided by HGNC
    Official Full Name
    hydatidiform mole associated and imprintedprovided by HGNC
    Primary source
    HGNC:HGNC:5326
    See related
    Ensembl:ENSG00000283122 MIM:606546
    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
    NCRNA00020
    Summary
    This gene, which encodes a non-protein coding transcript, exhibits differential DNA methylation between the two parental alleles at an adjacent CpG island, and is expressed only from the paternal allele. It is believed to be one of the causative genes for transient neonatal diabetes mellitus (TNDM), which is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. [provided by RefSeq, Oct 2010]
    Orthologs
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    Genomic context

    See HYMAI in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (144004916..144008259, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (144326053..144329867, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LTV1 ribosome biogenesis factor Neighboring gene zinc finger C2HC-type containing 1B Neighboring gene PLAG1 like zinc finger 1 Neighboring gene FKBP prolyl isomerase 7 pseudogene Neighboring gene splicing factor 3b subunit 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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
    Haploinsufficency

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-09-06)

    ClinGen Genome Curation Page

    General gene information

    Homology

    Other Names

    • hydatidiform mole associated and imprinted (non-protein coding)

    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_016174.1 RefSeqGene

      Range
      5472..8815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1035

    RNA

    1. NR_002768.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF241534
      Related
      ENST00000635591.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      144004916..144008259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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