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

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

rs231350 in KCNQ1;KCNQ1OT1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs397508091 in KCNQ1;KCNQ1OT1 gene and Congenital long QT syndrome PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

rs77402029 in KCNQ1;KCNQ1OT1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

rs78695585 in KCNQ1;KCNQ1OT1 gene and QT interval feature (observable entity) PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.