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    KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 [ Homo sapiens (human) ]

    Gene ID: 10984, updated on 26-Feb-2024

    Summary

    Official Symbol
    KCNQ1OT1provided by HGNC
    Official Full Name
    KCNQ1 opposite strand/antisense transcript 1provided by HGNC
    Primary source
    HGNC:HGNC:6295
    See related
    Ensembl:ENSG00000269821 MIM:604115; AllianceGenome:HGNC:6295
    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
    LIT1; Kncq1; KvDMR1; KCNQ10T1; KCNQ1-AS2; KvLQT1-AS; NCRNA00012
    Summary
    Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]
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    Genomic context

    See KCNQ1OT1 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2608328..2699994, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2629558..2721228, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2435338-2435838 Neighboring gene Sharpr-MPRA regulatory region 9407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3070 Neighboring gene transient receptor potential cation channel subfamily M member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2482166-2482666 Neighboring gene Sharpr-MPRA regulatory region 11059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4304 Neighboring gene potassium voltage-gated channel subfamily Q member 1 Neighboring gene uncharacterized LOC124902613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2540941-2541442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2541443-2541942 Neighboring gene MPRA-validated peak1163 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4305 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2554792-2554952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:2556786-2557286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2582101-2582884 Neighboring gene Sharpr-MPRA regulatory region 10946 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2590869-2591089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2600763-2601368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2706658-2707620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2709545-2710505 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2714101-2714968 Neighboring gene nonconserved acetylation island sequence 52 enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2729441-2729611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2735134-2735776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2739659-2740558 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:2741460-2742359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2744161-2745061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2745062-2745961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2746137-2747132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2755915-2756416 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2759896-2760754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2762325-2762961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2791793-2792456 Neighboring gene uncharacterized LOC124902614 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2818029-2818530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2821032-2821969

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Beckwith-Wiedemann syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-12-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2023-12-06)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog
    Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • KCNQ1 antisense RNA 2 (non-protein coding)
    • KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
    • KCNQ1 overlapping transcript 1 (non-protein coding)
    • long QT intronic transcript 1

    Clone Names

    • FLJ41078

    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.

    Genomic

    1. NG_016178.2 RefSeqGene

      Range
      5001..96671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1052

    RNA

    1. NR_002728.4 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021424, AC124055
      Related
      ENST00000597346.1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2608328..2699994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)