LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Italian
Study Design
884 unrelated healthy individuals (age range 10-106 years, 400 males and 484 females) from central Italy were studied
Conclusions
An increased frequency of ADA*2 carriers was found in males aged 80-85, and a decreased frequency in males over 85 (v2 = 13.93; df = 3; P = 0.003); significant differences among the age groups was not found in females
Identifier
ADA*2
Cytogenetic Location
22q11.1
UCSC Genome Browser
View 22q11.1 on the UCSC genome browser

Gene details

HGNC symbol
ADA2
Aliases
PAN; ADGF; CECR1; IDGFL; SNEDS 
Common name
adenosine deaminase 2 
Description
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
OMIM
607575
Ensembl
ENSG00000093072
UniProt/Swiss-Prot
A0A087X0I3_HUMAN
Entrez Gene
51816
UniGene
170310
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cecr1b
Drosophila melanogaster
Adgf-E

References

Napolioni and Lucarini (2010)

Other variants which are also part of this study