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


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Gene Symbol KCNQ1OT1
Entrez Gene ID 10984
Full Name KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
Synonyms KCNQ1-AS2, KCNQ10T1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012
General protein information
Gene Type ncRNA
Organism Homo sapiens (human)
Genome

11

11p15

Summary
Disorder

MIM: 604115

Beckwith-Wiedemann syndrome, 130650 (3)

mRNA Protein Product Sequence Price Select
GeneCards KCNQ1OT1
MIM 604115
Ensembl ENSG00000269821
HGNC 6295

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the KCNQ1OT1 gene?

The KCNQ1OT1 gene is located within another gene, KCNQ1. Because the two genes share a region of overlapping DNA, the KCNQ1OT1 gene is also known as KCNQ1 overlapping transcript 1 or KCNQ1 opposite strand/antisense transcript 1. The DNA sequence of two genes is "read" in opposite directions, however, and the genes have very different functions. Unlike the KCNQ1 gene, which provides instructions for making a protein that acts as a potassium channel, the KCNQ1OT1 gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA (a chemical cousin of DNA) is produced from the KCNQ1OT1 gene. This RNA helps regulate genes that are essential for normal growth and development before birth.

People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or "turned on," in cells. The KCNQ1OT1 gene, however, is active only when it is inherited from a person's father. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.

The KCNQ1OT1 gene is part of a cluster of genes on the short (p) arm of chromosome 11 that undergo genomic imprinting. KCNQ1OT1 and several other genes in this cluster are controlled by a nearby region of DNA known as imprinting center 2 (ICR2) or KvDMR. The KCNQ1OT1 gene plays an important role in maintaining the genomic imprinting of these genes. Several of the genes in this cluster are thought to help regulate growth.

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