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    KCNQ1DN KCNQ1 downstream neighbor [ Homo sapiens (human) ]

    Gene ID: 55539, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KCNQ1DNprovided by HGNC
    Official Full Name
    KCNQ1 downstream neighborprovided by HGNC
    Primary source
    HGNC:HGNC:13335
    See related
    Ensembl:ENSG00000237941 MIM:610980; AllianceGenome:HGNC:13335
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BWRT; HSA404617
    Summary
    Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]
    Expression
    Restricted expression toward testis (RPKM 1.3) See more
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    Genomic context

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    See KCNQ1DN in Genome Data Viewer
    Location:
    11p15.4; 11p15.5
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2870033..2872105)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2959255..2961327)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2891263..2893335)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel subfamily Q member 1 Neighboring gene uncharacterized LOC124902614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2818029-2818530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2821032-2821969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2826269-2826768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2832501-2833263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2833264-2834027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2848795-2849695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2856199-2857066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2857067-2857933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2878979-2879960 Neighboring gene KCNQ1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2884189-2884886 Neighboring gene CRISPRi-validated cis-regulatory element chr11.592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2890154-2890662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2904223-2904722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2905995-2906830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2906831-2907666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2907667-2908502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2913065-2913864 Neighboring gene SLC22A18 antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2924695-2925196 Neighboring gene cyclin dependent kinase inhibitor 1C Neighboring gene solute carrier family 22 member 18

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Epigenetic-aging-signature to determine age in different tissues. Koch CM, et al. Aging (Albany NY), 2011 Oct. PMID 22067257, Free PMC Article
    2. A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors. Xin Z, et al. J Biochem, 2000 Nov. PMID 11056398
    3. Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting. Engemann S, et al. Hum Mol Genet, 2000 Nov 1. PMID 11063728
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • KCNQ1 downstream neighbor (non-protein coding)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    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.

    RNA

    1. NR_024627.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AB039920
      Related
      ENST00000441418.2

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2870033..2872105
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      102228..104278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2959255..2961327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018722.2: Suppressed sequence

      Description
      NM_018722.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H478.1 GenPept UniProtKB/Swiss-Prot:Q9H478

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials