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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

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

Enhancers for KCNQ1DN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNQ1DN on UCSC Golden Path with GeneCards custom track

Promoters for KCNQ1DN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

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 & 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 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) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KCNQ1DN Gene

Localization for KCNQ1DN Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components 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

None

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:

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) (x25.4), Testis (x9.7), and Brain - Substantia nigra (x4.4).

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 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 and Protein tissue co-expression partners 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
rs2239897 -- 2,870,735(+) CACCA(A/G)CTCCC nc-transcript-variant
rs2289488 -- 2,871,725(-) GATGC(C/G)CCCCC intron-variant
rs2289489 -- 2,871,518(-) TCACT(C/T)GAGGT intron-variant
rs7114157 -- 2,869,437(+) TGGTT(A/G)CGCGG upstream-variant-2KB
rs7119600 -- 2,871,292(+) CGGCT(G/T)CAGGG intron-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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links 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. (J. Biochem. 2000) 2 3 4 23 67
  2. Epigenetic-aging-signature to determine age in different tissues. (PMID: 22067257) Koch C.M. … Wagner W. (Aging (Albany NY) 2011) 2 3
  3. 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. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for KCNQ1DN Gene

Sources for KCNQ1DN Gene

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