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

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
  • 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 due to imprinting defect of 11p15 and beckwith-wiedemann syndrome.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
genes like me logo Genes that share phenotypes with KCNQ1OT1: view

Animal Models for KCNQ1OT1 Gene

MGI Knock Outs for KCNQ1OT1:

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 :
(2) 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

  • 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

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

This gene was present in the common ancestor of human and mouse.

Orthologs for KCNQ1OT1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Kcnq1ot1 16
Species with no ortholog for KCNQ1OT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KCNQ1OT1 Gene

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

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

(9) MalaCards diseases for KCNQ1OT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome due to imprinting defect of 11p15
beckwith-wiedemann syndrome
  • wiedemann-beckwith syndrome
adrenal neuroblastoma
  • neuroblastoma of adrenal gland
hemihypertrophy
  • hemi 3 syndrome
umbilical hernia
  • hernia, umbilical
- elite association

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. Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells. (PMID: 19711451) Pick M. … Benvenisty N. (Stem Cells 2009) 23 67
  2. Loss of imprinting of insulin-like growth factor 2 is associated with increased risk of lymph node metastasis and gastric corpus cancer. (PMID: 19737423) Lu Y. … Zhu X. (J. Exp. Clin. Cancer Res. 2009) 23 67
  3. Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis. (PMID: 18854861) Alders M. … Mannens M. (Eur. J. Hum. Genet. 2009) 23 67
  4. LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants. (PMID: 19694203) JAoger S. … Eggermann T. (J. Pediatr. Endocrinol. Metab. 2009) 23 67
  5. The transcriptional status but not the imprinting control region determines allele-specific histone modifications at the imprinted H19 locus. (PMID: 17967893) Verona R.I. … Bartolomei M.S. (Mol. Cell. Biol. 2008) 23 67

Products for KCNQ1OT1 Gene

Sources for KCNQ1OT1 Gene

Back to Top

Content