KCNQ1OT1 - KCNQ1 opposite strand/antisense transcript 1 Gene

Also Known as LIT1; Kncq1; KvDMR1; KCNQ10T1; KCNQ1-AS2; KvLQT1-AS; NCRNA00012

Species: Homo sapiens

Gene Type: ncRNA

Gene ID: 10984

About KCNQ1OT1

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:2,608,328-2,699,998 (from NCBI)

This gene has 1 transcript (splice variant) and is associated with 3 phenotypes.

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]

Related Diseases

Diseases	Alias
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Long Qt Syndrome 1	Romano-Ward Syndrome LQT1 Ward-Romano Syndrome Rws Ventricular Fibrillation With Prolonged Qt Interval Wrs Long Qt Syndrome 1, Acquired, Susceptibility To Long Qt Syndrome 1, Acquired Romano-Ward Long Qt Syndrome Long Qt Syndrome Type 1 Long Qt Syndrome-1 Acquired Susceptibility To Long Qt Syndrome 1 Qt Syndrome, Long, Type 1
Hemihyperplasia, Isolated	Hemihypertrophy Hemihyperplasia Isolated Hemihyperplasia IH Hhp Hemihypertrophy, Isolated Hemi 3 Syndrome Hemicorporal Hypertrophy Isolated Hemihypertrophy Hemi-3 Syndrome
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Visual Epilepsy	Seizures Epilepsy, Visual Visual Seizure Acute Symptomatic Seizure Provoked Seizure Nonepileptic Seizure Disorder Uncontrolled Seizures Seizure Nos Fits Nos Onset Seizure Nos Seizure Disturbance
Kidney Cancer	Renal Cancer Renal Carcinoma Kidney Neoplasm Malignant Neoplasm Of Kidney Except Pelvis Malignant Tumour Of Kidney Kidney Neoplasms Cancer, Kidney Cancer, Renal Malignant Neoplasm Of Kidney Renal Cell Carcinoma
Acute Myocardial Infarction	Cardiac Attack Heart Attack
Lung Cancer Susceptibility 3	Lung Adenocarcinoma Adenocarcinoma Of Lung LNCR3 Adenocarcinoma Of Lung, Susceptibility To Bronchogenic Lung Adenocarcinoma Nonsmall Cell Adenocarcinoma Adenocarcinoma Lung Lung Adenocarcinomas Non-Small Cell Adenocarcinoma
Esophageal Cancer	Esophageal Carcinoma Carcinoma Of Esophagus Esophageal Squamous Cell Carcinoma, Somatic Esophageal Carcinoma, Somatic Esophagus Cancer Gastric Cardia Adenocarcinoma Esophageal Neoplasms Esophageal Cancer, Somatic Cancer Of Esophagus Cancer Of Oesophagus Carcinoma Of Oesophagus Ca Lower Third Oesophagus Ca Middle Third Oesophagus Malignant Neoplasm Of Distal Third Of Esophagus Malignant Neoplasm Of Lower Third Of Oesophagus Malignant Neoplasm Of Middle Third Of Oesophagus Malignant Neoplasm Of Proximal Third Of Esophagus Malignant Neoplasm Of Upper Third Esophagus Malignant Tumor Of Abdominal Esophagus Malignant Tumor Of Distal Third Of Esophagus Malignant Tumor Of Proximal Third Of Esophagus Malignant Tumor Of The Middle Third Of The Esophagus ESCR Aerodigestive Tract Cancer Escc Esophageal Squamous Cell Carcinoma Cancer, Esophageal Malignant Neoplasm Of Esophagus Squamous Cell Carcinoma Of Esophagus Malignant Neoplasm Of Middle Third Of Esophagus
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Gastric Cancer	Stomach Cancer Gastric Carcinoma Stomach Carcinoma Gastric Cancer, Somatic Gastric Neoplasm Carcinoma Of Stomach Stomach Neoplasms Malignant Neoplasm Of Stomach Gastric Cancer Risk After H. Pylori Infection Cancer Of The Stomach Adult Stomach Cancer Adult Stomach Carcinoma GASC Gastric Cancer Intestinal Gastric Cancers Gastric Carcinomas Cancer, Gastric Stomach Neoplasm Malignant Neoplasm Of Body Of Stomach Malignant Tumor Of Lesser Curve Of Stomach Gastrocarcinoma Of Unspecified Site Leather Bottle Stomach Carcinoma Of Fundus Of Stomach Cancer Of Fundus Of Stomach Primary Malignant Neoplasm Of Body Of Stomach Cancer Of Body Of Stomach Primary Malignant Neoplasm Of Pyloric Antrum Pyloric Antrum Cancer Malignant Tumour Of Stomach
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Beckwith-Wiedemann Syndrome Due To Imprinting Defect Of 11p15
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Familial Long Qt Syndrome	Congenital Long Qt Syndrome Lqts
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Mulchandani-Bhoj-Conlin Syndrome	MBCS Maternal Uniparental Disomy Of Chromosome 20 Maternal Upd(20) Upd(20)Mat Uniparental Disomy, Maternal, Chromosome 20
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Umbilical Hernia	Hernia, Umbilical
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KCNQ1OT1	MGD	MGI:1926855