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Aliases for KCNQ1DN Gene

Subcategory (RNA class) for KCNQ1DN Gene

lncRNA

Quality Score for this RNA gene is

3

Aliases for KCNQ1DN Gene

  • KCNQ1 Downstream Neighbor (Non-Protein Coding) 2 3
  • BWRT 3 4
  • Beckwith-Wiedemann Region Transcript Protein 4
  • KCNQ1 Downstream Neighbor 2
  • HSA404617 3

External Ids for KCNQ1DN Gene

ORGUL Members for KCNQ1DN Gene

Previous GeneCards Identifiers for KCNQ1DN Gene

  • GC11P002856
  • GC11P002679

Summaries for KCNQ1DN Gene

Entrez Gene Summary for KCNQ1DN Gene

  • 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]

GeneCards Summary for KCNQ1DN Gene

KCNQ1DN (KCNQ1 Downstream Neighbor (Non-Protein Coding)) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with KCNQ1DN include wilms tumor.

Gene Wiki entry for KCNQ1DN Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ1DN Gene

Genomics for KCNQ1DN Gene

Regulatory Elements for KCNQ1DN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNQ1DN Gene

Start:
2,870,033 bp from pter
End:
2,872,105 bp from pter
Size:
2,073 bases
Orientation:
Plus strand

Genomic View for KCNQ1DN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNQ1DN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ1DN Gene

Proteins for KCNQ1DN Gene

  • Protein details for KCNQ1DN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H478-KCQ1D_HUMAN
    Recommended name:
    KCNQ1 downstream neighbor protein
    Protein Accession:
    Q9H478
    Secondary Accessions:

    Protein attributes for KCNQ1DN Gene

    Size:
    68 amino acids
    Molecular mass:
    7384 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KCNQ1DN Gene

Proteomics data for KCNQ1DN Gene at MOPED

Post-translational modifications for KCNQ1DN Gene

No Post-translational modifications

No data available for DME Specific Peptides for KCNQ1DN Gene

Domains for KCNQ1DN Gene

Gene Families for KCNQ1DN Gene

HGNC:
  • LNCRNA :Long non-coding RNAs

Protein Domains for KCNQ1DN Gene

ProtoNet:

Suggested Antigen Peptide Sequences for KCNQ1DN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KCNQ1DN: view

No data available for UniProtKB/Swiss-Prot for KCNQ1DN Gene

Function for KCNQ1DN Gene

Gene Ontology (GO) - Molecular Function for KCNQ1DN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with KCNQ1DN: view

Phenotypes for KCNQ1DN Gene

GenomeRNAi human phenotypes for KCNQ1DN:
genes like me logo Genes that share phenotypes with KCNQ1DN: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNQ1DN Gene

Localization for KCNQ1DN Gene

Gene Ontology (GO) - Cellular Components for KCNQ1DN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with KCNQ1DN: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for KCNQ1DN Gene

Pathways for KCNQ1DN Gene

SuperPathways for KCNQ1DN Gene

No Data Available

Interacting Proteins for KCNQ1DN Gene

Gene Ontology (GO) - Biological Process for KCNQ1DN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with KCNQ1DN: view

No data available for Pathways by source for KCNQ1DN Gene

Transcripts for KCNQ1DN Gene

mRNA/cDNA for KCNQ1DN Gene

(7) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNQ1DN Gene

KCNQ1 downstream neighbor (non-protein coding):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ1DN

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ1DN Gene

No ASD Table

Relevant External Links for KCNQ1DN Gene

GeneLoc Exon Structure for
KCNQ1DN
ECgene alternative splicing isoforms for
KCNQ1DN

Expression for KCNQ1DN Gene

mRNA expression in normal human tissues for KCNQ1DN Gene

mRNA differential expression in normal tissues according to GTEx for KCNQ1DN Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (25.4), Testis (9.7), and Brain - Substantia nigra (4.4).

SOURCE GeneReport for Unigene cluster for KCNQ1DN Gene Hs.127821

mRNA Expression by UniProt/SwissProt for KCNQ1DN Gene

Q9H478-KCQ1D_HUMAN
Tissue specificity: Shows reduced expression in Wilms tumor samples.
genes like me logo Genes that share expressions with KCNQ1DN: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for KCNQ1DN Gene

Orthologs for KCNQ1DN Gene

Evolution for KCNQ1DN Gene

ENSEMBL:
Gene Tree for KCNQ1DN (if available)
TreeFam:
Gene Tree for KCNQ1DN (if available)

No data available for Orthologs for KCNQ1DN Gene

Paralogs for KCNQ1DN Gene

No data available for Paralogs for KCNQ1DN Gene

Variants for KCNQ1DN Gene

Sequence variations from dbSNP and Humsavar for KCNQ1DN Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs375319 -- 2,868,789(+) AGGGG(A/G)AGCCA upstream-variant-2KB
rs376025 -- 2,868,994(+) GGAGG(A/C)GGAGG upstream-variant-2KB
rs379178 -- 2,868,789(+) CAGGG(C/G)GAGCC upstream-variant-2KB
rs412349 -- 2,870,303(+) CAGCA(A/C/G/T)GCTCT nc-transcript-variant
rs427621 -- 2,870,363(+) CCCCA(C/G)GGCTG nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNQ1DN Gene

Variant ID Type Subtype PubMed ID
dgv333e1 CNV Complex 17122850
nsv896842 CNV Loss 21882294
dgv1005n71 CNV Loss 21882294
dgv1006n71 CNV Loss 21882294
nsv469930 CNV Loss 18288195
dgv1007n71 CNV Loss 21882294
dgv1008n71 CNV Loss 21882294
nsv825715 CNV Gain 20364138
nsv8765 CNV Gain+Loss 18304495
nsv467655 CNV Loss 19166990
dgv1009n71 CNV Loss 21882294
nsv832050 CNV Loss 17160897

Relevant External Links for KCNQ1DN Gene

HapMap Linkage Disequilibrium report
KCNQ1DN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ1DN Gene

Disorders for KCNQ1DN Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KCNQ1DN Gene including...

Search for KCNQ1DN Gene in MalaCards »

Relevant External Links for KCNQ1DN

Genetic Association Database (GAD)
KCNQ1DN
genes like me logo Genes that share disorders with KCNQ1DN: view

No data available for UniProtKB/Swiss-Prot for KCNQ1DN Gene

Publications for KCNQ1DN Gene

  1. A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in Wilms' tumors. (PMID: 11056398) Xin Z. … Mukai T. (J. Biochem. 2000) 2 3 4 23
  2. Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting. (PMID: 11063728) Engemann S. … Walter J. (Hum. Mol. Genet. 2000) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Epigenetic-aging-signature to determine age in different tissues. (PMID: 22067257) Koch C.M. … Wagner W. (Aging (Albany NY) 2011) 2 3
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 4

Products for KCNQ1DN Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate KCNQ1DN
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ1DN
    • Block miRNA regulation of KCNQ1DN using miScript Target Protectors

    Sources for KCNQ1DN Gene

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