Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNQ1DN Gene

Subcategory (RNA class) for KCNQ1DN Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for KCNQ1DN Gene

  • KCNQ1 Downstream Neighbor (Non-Protein Coding) 2 3 5
  • BWRT 3 4
  • Beckwith-Wiedemann Region Transcript Protein 4
  • KCNQ1 Downstream Neighbor 2
  • HSA404617 3

External Ids 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 non-coding RNA class. Diseases associated with KCNQ1DN include Wilms Tumor 2.

Gene Wiki entry for KCNQ1DN Gene

Additional gene information for KCNQ1DN Gene

No data available for CIViC summary , 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

Enhancers for KCNQ1DN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H002824 1.9 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.2 -44.0 -44004 3 TBP JUN MAX ZIC2 RFX5 POLR2A SMC3 RCOR1 FOS CHD2 KCNQ1-AS1 KCNQ1DN CDKN1C COX6CP18
GH11H002724 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12 -141.7 -141723 7 MLX ARID4B DMAP1 SP5 NFYC PPARG KAT8 NFIL3 SSRP1 MIER3 KCNQ1OT1 KCNQ1DN TSSC4 COX6CP18
GH11H002777 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -90.4 -90355 5 HDGF PKNOX1 ATF1 TCF12 ZNF766 GLIS2 GATA2 ATF7 NCOA1 REST KCNQ1-AS1 KCNQ1DN KCNQ1 CDKN1C COX6CP18
GH11H002549 0.5 ENCODE dbSUPER 10.7 -319.3 -319310 1 SLC22A18AS TRPM5 KCNQ1-AS1 KCNQ1DN SLC22A18 ENSG00000199550 CD81 GC11P002540 GC11P002570
GH11H002822 0.3 FANTOM5 12.2 -47.0 -46965 0 KCNQ1-AS1 KCNQ1DN TSSC4 KCNQ1 COX6CP18
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNQ1DN on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNQ1DN Gene

Chromosome:
11
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

Genes around KCNQ1DN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ1DN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for KCNQ1DN Gene

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

neXtProt entry for KCNQ1DN Gene

Post-translational modifications for KCNQ1DN Gene

No Post-translational modifications

No data available for DME Specific Peptides for KCNQ1DN Gene

Domains & Families for KCNQ1DN Gene

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 Gene Families and UniProtKB/Swiss-Prot for KCNQ1DN Gene

Function for KCNQ1DN Gene

Phenotypes From GWAS Catalog 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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KCNQ1DN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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 , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for KCNQ1DN Gene

Pathways & Interactions 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 and SIGNOR curated interactions for KCNQ1DN Gene

Drugs & Compounds for KCNQ1DN Gene

No Compound Related Data Available

Transcripts for KCNQ1DN Gene

mRNA/cDNA for KCNQ1DN Gene

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

Unigene Clusters for KCNQ1DN Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KCNQ1DN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x25.4), Testis (x9.7), and Brain - Substantia nigra (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of KCNQ1DN Gene:

KCNQ1DN

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 expression patterns with KCNQ1DN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000580640 -- 2,868,739(+) CAAAC(G/T)CGGAA upstream-variant-2KB
rs1001280416 -- 2,868,570(+) GAATC(A/G)GAGGC upstream-variant-2KB
rs1001537528 -- 2,869,641(+) CTGGG(C/T)GCCCA upstream-variant-2KB
rs1001899277 -- 2,870,991(+) TGTGT(A/G)GAAGG intron-variant
rs1001915015 -- 2,870,557(+) CCCTT(C/T)CAGAG nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv1574n54 CNV loss 21841781
dgv1575n54 CNV loss 21841781
esv2759795 CNV gain 17122850
nsv1053066 CNV gain 25217958
nsv467655 CNV loss 19166990
nsv469930 CNV loss 18288195
nsv553111 CNV loss 21841781
nsv825715 CNV gain 20364138
nsv832050 CNV loss 17160897
nsv8765 CNV gain+loss 18304495
nsv951292 CNV deletion 24416366

Relevant External Links for KCNQ1DN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNQ1DN

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

Disorders for KCNQ1DN Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNQ1DN Gene - From: GeneCards

Disorder Aliases PubMed IDs
wilms tumor 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNQ1DN

Genetic Association Database (GAD)
KCNQ1DN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ1DN
genes like me logo Genes that share disorders with KCNQ1DN: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (Journal of biochemistry 2000) 2 3 4 22 60
  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 (Human molecular genetics 2000) 2 3 4 60
  3. Epigenetic-aging-signature to determine age in different tissues. (PMID: 22067257) Koch CM … Wagner W (Aging 2011) 2 3 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 4 60

Products for KCNQ1DN Gene

Sources for KCNQ1DN Gene

Content
Loading form....