KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNQ1OT1provided by HGNC
Official Full Name: KCNQ1 opposite strand/antisense transcript 1provided by HGNC
Primary source: HGNC:HGNC:6295
See related: Ensembl:ENSG00000269821 MIM:604115; AllianceGenome:HGNC:6295
Gene type: ncRNA
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LIT1; Kncq1; KvDMR1; KCNQ10T1; KCNQ1-AS2; KvLQT1-AS; NCRNA00012
Summary: 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]
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Genomic context

Location:: 11p15.5

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2608328..2699994, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2629558..2721224, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA KCNQ1OT1/miR-496/HMGB1 Signaling Axis Promotes Invasion and Migration of Non-small Cell Lung Cancer Cells.
Title: LncRNA KCNQ1OT1/miR-496/HMGB1 Signaling Axis Promotes Invasion and Migration of Non-small Cell Lung Cancer Cells.
Exploring the clinical and cellular mechanisms of LncRNA-KCNQ1OT1/miR-29a-3p/SOCS3 molecular axis in cases of unexplained recurrent spontaneous abortion.
Title: Exploring the clinical and cellular mechanisms of LncRNA-KCNQ1OT1/miR-29a-3p/SOCS3 molecular axis in cases of unexplained recurrent spontaneous abortion.
A review on the role of KCNQ1OT1 lncRNA in human disorders.
Title: A review on the role of KCNQ1OT1 lncRNA in human disorders.
Role of oncogenic long noncoding RNA KCNQ1OT1 in colon cancer.
Title: Role of oncogenic long noncoding RNA KCNQ1OT1 in colon cancer.
Mechanisms by which silencing long-stranded noncoding RNA KCNQ1OT1 alleviates myocardial ischemia/reperfusion injury (MI/RI)-induced cardiac injury via miR-377-3p/HMOX1.
Title: Mechanisms by which silencing long-stranded noncoding RNA KCNQ1OT1 alleviates myocardial ischemia/reperfusion injury (MI/RI)-induced cardiac injury via miR-377-3p/HMOX1.
Biological role of long non-coding RNA KCNQ1OT1 in cancer progression.
Title: Biological role of long non-coding RNA KCNQ1OT1 in cancer progression.
MiR-1299 is regulated by KCNQ1OT1 and inhibits cervical cancer progression.
Title: MiR-1299 is regulated by KCNQ1OT1 and inhibits cervical cancer progression.
The Regulation, Functions, and Signaling of miR-153 in Neurological Disorders, and Its Potential as a Biomarker and Therapeutic Target.
Title: The Regulation, Functions, and Signaling of miR-153 in Neurological Disorders, and Its Potential as a Biomarker and Therapeutic Target.
LncRNA KCNQ10T1 shuttled by bone marrow mesenchymal stem cell-derived exosome inhibits sepsis via regulation of miR-154-3p/RNF19A axis.
Title: LncRNA KCNQ10T1 shuttled by bone marrow mesenchymal stem cell-derived exosome inhibits sepsis via regulation of miR-154-3p/RNF19A axis.
Associations between KCNQ1OT1 genetic variation rs10766212 and susceptibility to colorectal cancer and clinical stage in a Chinese Han population.
Title: Associations between KCNQ1OT1 genetic variation rs10766212 and susceptibility to colorectal cancer and clinical stage in a Chinese Han population.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Beckwith-Wiedemann syndrome MedGen: C0004903 OMIM: 130650 GeneReviews: Wilms Tumor Predisposition, Beckwith-Wiedemann Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-12-06) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2023-12-06) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16373 (e-PCR)
- UniSTS:60998

RH94222 (e-PCR)
- UniSTS:87913

RH98704 (e-PCR)
- UniSTS:84368

RH48362 (e-PCR)
- UniSTS:86181

PMC21842P1 (e-PCR)
- UniSTS:272071

PMC21842P2 (e-PCR)
- UniSTS:272072

RH17571 (e-PCR)
- UniSTS:72179

Other Names

KCNQ1 antisense RNA 2 (non-protein coding)
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCNQ1 overlapping transcript 1 (non-protein coding)
long QT intronic transcript 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.