LongevityMap Gene
Gene details
- HGNC symbol
- ADA
- Aliases
- Common name
- adenosine deaminase
- Description
- This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 20q13.12
- UCSC Genome Browser
- View 20q13.12 on the UCSC genome browser
- OMIM
- 608958
- Ensembl
- ENSG00000196839
- UniProt/Swiss-Prot
- A0A0S2Z381_HUMAN
- Entrez Gene
- 100
- UniGene
- 654536
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- C06G3.5
- Danio rerio
- ada
- Mus musculus
- Ada
- Rattus norvegicus
- Ada
- Saccharomyces cerevisiae
- AAH1
- Schizosaccharomyces pombe
- SPBC1683.02
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as AAH1
Studies (2)
Significant/Non-significant: 2/0
Study 1
- Longevity Association
- Significant
- Population
- Italian (Central)
- Study Design
- Functional SNPs have been determined for 1071 unrelated healthy individuals (502 males and 569 females) from Central Italy, 18-106 years old, divided into three gender-specific age classes defined according to demographic information and accounting for the different survivals between sexes. The categories for men were: individuals <66 years old, individuals 66-88 years old, and individuals > 88 years old. The categories for women were: individuals <73 years old, individuals 73-91 years old, and individuals > 91 years old.
- Conclusions
- Single-locus analysis showed that when comparing all 3 age categories only ADA 22G>A (rs73598374) is significantly associated with human life-expectancy in males
- Indentifier
- rs73598374
- Reference
Study 2
- Longevity Association
- Significant
- Population
- Italian (Central)
- Study Design
- Functional SNPs have been determined for 1071 unrelated healthy individuals (502 males and 569 females) from Central Italy, 18-106 years old, divided into three gender-specific age classes defined according to demographic information and accounting for the different survivals between sexes. The categories for men were: individuals <66 years old, individuals 66-88 years old, and individuals > 88 years old. The categories for women were: individuals <73 years old, individuals 73-91 years old, and individuals > 91 years old.
- Conclusions
- When comparing all 3 age groups, both two-loci and three-loci interaction are significantly associated with life-expectancy in males. For females, a significant two-loci interaction occurs in females between ADA 22G>A (rs73598374) and TNF-a 238G>A (rs361525) only when comparing young and mid-aged individuals.
- Indentifier
- rs73598374
- Reference