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.
Identifier
YTHDF2
Cytogenetic Location
1p35.3
UCSC Genome Browser
View 1p35.3 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
yth2
Mus musculus
Ythdf2
Rattus norvegicus
Ythdf2

References

Cardelli et al. (2006)

Other variants which are also part of this study