Gene: KCNQ1OT1

Alternate names for this Gene: KCNQ1-AS2|KCNQ10T1|Kncq1|KvDMR1|KvLQT1-AS|LIT1|NCRNA00012

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: KCNQ1 opposite strand/antisense transcript 1

Type of Gene: ncRNA

Gene: KCNQ1

Alternate names for this Gene: ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS

Gene Summary: This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5-p15.4

Description of this Gene: potassium voltage-gated channel subfamily Q member 1

Type of Gene: protein-coding

rs151216 in KCNQ1OT1;KCNQ1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs7128926 in KCNQ1OT1;KCNQ1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117601636 in KCNQ1OT1;KCNQ1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 26818947 2016 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

PMID 25102180 2014 Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 20581827 2010 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

PMID 22325160 2012 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

rs775537394 in KCNQ1OT1;KCNQ1 gene and Long QT Syndrome PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 19862833 2009 The genetic basis of long QT and short QT syndromes: a mutation update.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26318259 2016 Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

rs199472784 in KCNQ1OT1;KCNQ1 gene and Long QT Syndrome 1 PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.

PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?

PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.

PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].

PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.

rs10832417 in KCNQ1OT1;KCNQ1 gene and Mean blood pressure PMID 24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.

rs874031 in KCNQ1OT1;KCNQ1 gene and QT interval feature (observable entity) PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs10832417 in KCNQ1OT1;KCNQ1 gene and Systolic Pressure PMID 24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.

rs10832417 in KCNQ1OT1;KCNQ1 gene and Systolic blood pressure measurement PMID 24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.