KCNQ1OT1 Gene
RNA gene GIFtS: 34
GCID: GC11M002661
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KCNQ1 opposite strand/antisense transcript 1 (non-protein...
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Aliases
for KCNQ1OT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
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Subcategory (RNA class): lncRNA
Quality score for this RNA gene is 3
| Aliases |
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| KCNQ1 Opposite Strand/Antisense Transcript 1 (Non-Protein Coding)1 2 | | KvLQT1-AS1 2 | | LIT11 2 5 | | NCRNA000121 2 | | KCNQ1-AS21 2 | | KCNQ10T12 5 | | KvDMR11 2 | | |
| External Ids: | HGNC: 62951 | Entrez Gene: 109842 | Ensembl: ENSG000002584927 | OMIM: 6041155 | | ORGUL members: | |
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| NONCODE:n343064 | |
Export aliases for KCNQ1OT1 gene to outside databasesPrevious GC identifers: GC11U990199 GC11M002674 GC11M002450
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Summaries
for KCNQ1OT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
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Entrez Gene summary for KCNQ1OT1:
Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from onlyone chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionallyindependent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in anintron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from thematernally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, andunmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that isexclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is aunspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genesthrough epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients withBeckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. (providedby RefSeq, Apr 2012)
Gene Wiki entry for KCNQ1OT1
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Genomic Views
for KCNQ1OT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KCNQ1OT1 gene promoter:
MyoD
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNQ1OT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNQ1OT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5KCNQ1OT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M002661: view genomic region
(about GC identifiers)
Start:
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2,661,768 bp from pter |
End:
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2,721,228 bp from pter |
Size:
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59,461 bases |
Orientation:
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minus strand |
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Proteins
for KCNQ1OT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
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UniProtKB: --
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Protein
Domains /
Families
for KCNQ1OT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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Function
for KCNQ1OT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Function Summary:
Genatlas biochemistry entry for KCNQ1OT1:intronic transcript 1,embedded in intron 9 (and 10) of KCNQ1,in opposite orientation,expressed in most tissues from thepaternal allele,the maternal allele being imprinted through a specific methylation of a CpG island,abnormallyexpressed from both paternal and maternal alleles in patients with Beckwith-Wiedemann syndrome,independently of IGF2imprinting,normally imprinted in Wilms tumor
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1OT1 |
Animal Models:
Mouse knock-outs for KCNQ1OT1: Kcnq1ot1tm2Tilg Kcnq1ot1tm1Tilg Kcnq1ot1tm4Tilg Kcnq1ot1tm1.1Mjh
9 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Kcnq1ot1):
KCNQ1OT1 for phenotypes About GeneDecksing
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Pathways & Interactions
for KCNQ1OT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNQ1OT1
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Drugs & Compounds
for KCNQ1OT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
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 Browse Tocris compounds for KCNQ1OT1
Search CenterWatch for drugs/clinical trials and news about KCNQ1OT1 
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Transcripts
for KCNQ1OT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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Unigene Clusters for KCNQ1OT1: KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) Hs.604823 [show with all ESTs], Hs.741312 [show with all ESTs]Unigene Representative Sequences: BX089392, NR_0027281 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000557213(uc001lwp.2)
Additional cDNA sequence: AK123073.1 NR_002728.3 2 DOTS entries: DT.309954 DT.99988272
GeneLoc Exon Structure
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Expression
for KCNQ1OT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| Expression evidence for KCNQ1OT1:none
KCNQ1OT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATATTTAC
About this image
Genevestigator expression for KCNQ1OT1
SOURCE GeneReport for Unigene clusters: Hs.604823 Hs.741312
SABiosciences Custom PCR Arrays for KCNQ1OT1
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KCNQ1OT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KCNQ1OT1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNQ1OT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNQ1OT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1OT1 |
Orthologs
for KCNQ1OT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of human and mouse.
Orthologs for KCNQ1OT1 gene from 1 species (see representative species ) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Kcnq1ot15 |
KCNQ1 overlapping transcript 1 |
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7 (88.15 cM) 143213111 |
ENSEMBL Gene Tree for KCNQ1OT1 (if available)
TreeFam Gene Tree for KCNQ1OT1 (if available) |
Paralogs
for KCNQ1OT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
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Genomic Variants
for KCNQ1OT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
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Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KCNQ1OT1
2 CNVs: 48782 48781
Human Gene Mutation Database (HGMD): KCNQ1OT1
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for KCNQ1OT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
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KCNQ1OT1 for disorders About GeneDecksing
OMIM gene information: 604115
OMIM disorders: 130650
11  diseases for KCNQ1OT1: About MalaCardsbeckwith-wiedemann syndrome long qt syndrome birth defects wilms tumor
adrenal neuroblastoma adrenocortical tumor esophageal cancer twinning
esophagitis neuroblastoma colorectal cancer
4 Novoseek disease relationships for KCNQ1OT1 gene About this table
GeneTests: KCNQ1OT1
Beckwith-Wiedemann Syndrome
Genetic Association Database (GAD): KCNQ1OT1
Human Genome Epidemiology (HuGE) Navigator: KCNQ1OT1 (1 document)
Export disorders for KCNQ1OT1 gene to outside databases
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Publications
for KCNQ1OT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for KCNQ1OT1 gene, integrated from 9 sources (see all 59):
(articles sorted by number of sources associating them with KCNQ1OT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. (PubMed id 15851119)1, 4 Khositseth A....Ackerman M.J. (2004)
- In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. (PubMed id 12772698)1, 3 Gicquel C....Le Bouc Y. (2003)
- Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. (PubMed id 10220444)1, 3 Lee M.P....Feinberg A.P. (1999)
- ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. (PubMed id 15888726)1, 9 Arima T....Wake N. (2005)
- Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers. (PubMed id 16965397)1, 9 Nakano S....Oshimura M. (2006)
- Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes. (PubMed id 18762571)1, 9 Khoureiry R....Lefevre A. (2008)
- Clone- and gene-specific aberrations of parental impr inting in human induced pluripotent stem cells. (PubMed id 19711451)1, 9 Pick M....Benvenisty N. (2009)
- The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Si lver-Russell syndrome cases. (PubMed id 21920939)1 Chiesa N....Ferrero G.B. (2012)
- Antisense noncoding RNA promoter regulates the timing of de novo methylation of an imprinting control region. (PubMed id 22119056)1 Guseva N....Kanduri C. (2012)
- Mechanisms of long range silencing by imprinted macro non-coding RNAs. (PubMed id 22386265)1 Pauler F.M....Hudson Q.J. (2012)
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External Searches for KCNQ1OT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing KCNQ1OT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing KCNQ1OT1 gene
(According to HUGE)
About This Section
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Specialized Databases showing KCNQ1OT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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About This Section
| Patent Information for KCNQ1OT1 gene:
Search GeneIP for patents involving KCNQ1OT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNQ1OT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KCNQ1OT1 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNQ1OT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNQ1OT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNQ1OT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNQ1OT1 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNQ1OT1 |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ1OT1 |
|  |  |  | | | | Search ThermoFisher Antibodies for KCNQ1OT1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KCNQ1OT1 |
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GeneCards Homepage -
Last full update: 18 Mar 2013 -
Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013
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