GeneID: 396
Names
Common Name: | YTHDC2-KCNN2 | Type: | Intergenic Region |
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Chromosome: | 5 (NC_000005.10) | Locus: | N/A |
HUGO Symbol: | N/A | Full Name: | N/A |
Exons: | N/A | Introns: | N/A |
Description:
YTHDC2 (YTH domain containing 2) encodes an RNA helicase that specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs. m6A modification affects all aspects of mRNA metabolism (e.g. mRNA stability, translation efficiency, splicing and localization). In the context of haematopoiesis, m6A was found to regulate the expansion and self-renewal of haematopoietic stem cells. KCNN2 (potassium calcium-activated channel (KCa) subfamily N member 2) forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. KCa channels contribute to action potential repolarisation in the neurons, and to vascular tone and endothelial synthesis of vasoactive modulators in the vasculature. A variant located in the YTHDC2-KCNN2 intergenic region associated with F-cell levels in sickle cell disease.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
IthaScore
Publications / Origin
- Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
A/A | Date | Curator(s) | Comments |
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1 | 2020-10-06 13:22:53 | The IthaGenes Curation Team | Created |