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KCNQ1DN KCNQ1 downstream neighbor [ Homo sapiens (human) ]

Gene ID: 55539, updated on 8-Nov-2023

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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Location:
11p15.4; 11p15.5
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2870033..2872105)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2959255..2961327)
105.20220307 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)

Genotypes

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_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
    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.

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