LP62761-9
KCNQ1OT1 gene
Active
Description
The KCNQ1OT1 gene (KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)) [HGNC Gene ID:6295] is located on chromosome 11p15. 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] [NCBI Gene ID:10984] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- KCNQ1OT1 gene
- Part Display Name
- KCNQ1OT1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-03-09
- Construct for LOINC Short Name
- KCNQ1OT1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | KCNQ1OT1 基因 Synonyms: KCNQ1 重叠转录本 1; |
| et-EE | Estonian (Estonia) | KCNQ1OT1 geen |
| es-ES | Spanish (Spain) | Gen KCNQ10T1 |
| it-IT | Italian (Italy) | KCNQ1OT1, gene Synonyms: Gene KCNQ1OT1 |
| tr-TR | Turkish (Turkey) | KCNQ1OT1 geni |
| ru-RU | Russian (Russian Federation) | KCNQ1OT1 ген |
| nl-NL | Dutch (Netherlands) | KCNQ1OT1-gen Synonyms: KCNQ1OT1 gen |
| fr-FR | French (France) | KCNQ1OT1 gène |
| pl-PL | Polish (Poland) | KCNQ1OT1 gen Synonyms: Gen KCNQ1OT1 |
| el-GR | Greek (Greece) | Γονίδιο KCNQ1OT1 Synonyms: Γονίδιο KCNQ1OT1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://