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Aliases for KCNQ1OT1 Gene

Subcategory (RNA class) for KCNQ1OT1 Gene

antisense

Quality Score for this RNA gene is

3

Aliases for KCNQ1OT1 Gene

  • KCNQ1 Opposite Strand/Antisense Transcript 1 (Non-Protein Coding) 2 3 5
  • KCNQ1 Overlapping Transcript 1 (Non-Protein Coding) 2 3
  • KCNQ1 Antisense RNA 2 (Non-Protein Coding) 2 3
  • Long QT Intronic Transcript 1 3
  • Non-Protein Coding RNA 12 2
  • NCRNA00012 3
  • KCNQ1-AS2 3
  • KvLQT1-AS 3
  • KCNQ10T1 3
  • KvDMR1 3
  • Kncq1 3
  • LIT1 3

External Ids for KCNQ1OT1 Gene

ORGUL Members for KCNQ1OT1 Gene

Previous GeneCards Identifiers for KCNQ1OT1 Gene

  • GC11U990199
  • GC11M002674
  • GC11M002450

Summaries for KCNQ1OT1 Gene

Entrez Gene Summary for KCNQ1OT1 Gene

  • Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]

GeneCards Summary for KCNQ1OT1 Gene

KCNQ1OT1 (KCNQ1 Opposite Strand/Antisense Transcript 1 (Non-Protein Coding)) is an RNA Gene, and is affiliated with the antisense RNA class. Diseases associated with KCNQ1OT1 include beckwith-wiedemann syndrome and isolated hemihyperplasia.

Gene Wiki entry for KCNQ1OT1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ1OT1 Gene

Genomics for KCNQ1OT1 Gene

Regulatory Elements for KCNQ1OT1 Gene

Enhancers for KCNQ1OT1 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 KCNQ1OT1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNQ1OT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNQ1OT1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the KCNQ1OT1 gene promoter:

Genomic Location for KCNQ1OT1 Gene

Chromosome:
11
Start:
2,608,328 bp from pter
End:
2,699,998 bp from pter
Size:
91,671 bases
Orientation:
Minus strand

Genomic View for KCNQ1OT1 Gene

Genes around KCNQ1OT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ1OT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNQ1OT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ1OT1 Gene

Proteins for KCNQ1OT1 Gene

Post-translational modifications for KCNQ1OT1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for KCNQ1OT1 Gene

Domains & Families for KCNQ1OT1 Gene

Gene Families for KCNQ1OT1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KCNQ1OT1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for KCNQ1OT1 Gene

Function for KCNQ1OT1 Gene

Molecular function for KCNQ1OT1 Gene

GENATLAS Biochemistry:
intronic transcript 1,embedded in intron 9 (and 10) of KCNQ1,in opposite orientation,expressed in most tissues from the paternal allele,the maternal allele being imprinted through a specific methylation of a CpG island,abnormally expressed from both paternal and maternal alleles in patients with Beckwith-Wiedemann syndrome,independently of IGF2 imprinting,normally imprinted in Wilms tumor

Human Phenotype Ontology for KCNQ1OT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KCNQ1OT1 Gene

Localization for KCNQ1OT1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNQ1OT1 Gene COMPARTMENTS Subcellular localization image for KCNQ1OT1 gene
Compartment Confidence
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KCNQ1OT1 Gene

Pathways & Interactions for KCNQ1OT1 Gene

SuperPathways for KCNQ1OT1 Gene

No Data Available

Interacting Proteins for KCNQ1OT1 Gene

Gene Ontology (GO) - Biological Process for KCNQ1OT1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KCNQ1OT1 Gene

Drugs & Compounds for KCNQ1OT1 Gene

No Compound Related Data Available

Transcripts for KCNQ1OT1 Gene

mRNA/cDNA for KCNQ1OT1 Gene

(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNQ1OT1 Gene

KCNQ1 opposite strand/antisense transcript 1 (non-protein coding):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ1OT1 Gene

No ASD Table

Relevant External Links for KCNQ1OT1 Gene

GeneLoc Exon Structure for
KCNQ1OT1
ECgene alternative splicing isoforms for
KCNQ1OT1

Expression for KCNQ1OT1 Gene

mRNA expression in normal human tissues for KCNQ1OT1 Gene

SOURCE GeneReport for Unigene cluster for KCNQ1OT1 Gene Hs.604823

genes like me logo Genes that share expression patterns with KCNQ1OT1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KCNQ1OT1 Gene

Orthologs for KCNQ1OT1 Gene

Evolution for KCNQ1OT1 Gene

ENSEMBL:
Gene Tree for KCNQ1OT1 (if available)
TreeFam:
Gene Tree for KCNQ1OT1 (if available)

No data available for Orthologs for KCNQ1OT1 Gene

Paralogs for KCNQ1OT1 Gene

No data available for Paralogs for KCNQ1OT1 Gene

Variants for KCNQ1OT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCNQ1OT1 Gene

Variant ID Type Subtype PubMed ID
nsv896833 CNV Loss 21882294
nsv517065 CNV Gain 19592680
esv1004234 CNV Insertion 20482838
esv991030 CNV Deletion 20482838
dgv1004n71 CNV Loss 21882294
nsv467652 CNV Loss 19166990
esv2744011 CNV Deletion 23290073

Relevant External Links for KCNQ1OT1 Gene

HapMap Linkage Disequilibrium report
KCNQ1OT1
Human Gene Mutation Database (HGMD)
KCNQ1OT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Variation tolerance for KCNQ1OT1 Gene

Disorders for KCNQ1OT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KCNQ1OT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • wiedemann-beckwith syndrome
isolated hemihyperplasia
  • hemi 3 syndrome
beckwith-wiedemann syndrome due to imprinting defect of 11p15
adrenal neuroblastoma
  • neuroblastoma of adrenal gland
silver-russell syndrome
  • silver russell dwarfism
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KCNQ1OT1

Genetic Association Database (GAD)
KCNQ1OT1
Human Genome Epidemiology (HuGE) Navigator
KCNQ1OT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ1OT1
genes like me logo Genes that share disorders with KCNQ1OT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNQ1OT1 Gene

Publications for KCNQ1OT1 Gene

  1. Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. (PMID: 15851119) Khositseth A. … Ackerman M.J. (Heart Rhythm 2004) 3 48 67
  2. Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells. (PMID: 19711451) Pick M. … Benvenisty N. (Stem Cells 2009) 3 23
  3. Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes. (PMID: 18762571) Khoueiry R. … LefA"vre A. (J. Med. Genet. 2008) 3 23
  4. Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers. (PMID: 16965397) Nakano S. … Oshimura M. (Cancer Sci. 2006) 3 23
  5. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. (PMID: 15888726) Arima T. … Wake N. (Nucleic Acids Res. 2005) 3 23

Products for KCNQ1OT1 Gene

Sources for KCNQ1OT1 Gene

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