LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian
Study Design: A locus associated with human longevity corresponds to a (TG)n microsatellite in the YTHDF2 gene. 412 participants of different ages, including 137 centenarians, were genotyped.
Conclusions: The increased homozygosity in centenarians at this locus was confirmed, and observed a concomitantly increased frequency of the most frequent allele and the corresponding homozygous genotype. The same genotype was associated with increased YTHDF2 messenger RNA levels in immortalized lymphocytes.

HGNC symbol: YTHDF2
Aliases: CAHL; HGRG8; NY-REN-2
Common name: YTH N6-methyladenosine RNA binding protein 2
Description: This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012]
OMIM: 610640
Ensembl: ENSG00000198492
UniProt/Swiss-Prot: YTHD2_HUMAN
Entrez Gene: 51441
UniGene: 532286
HapMap: View on HapMap

Cardelli et al. (2006)