LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
GPIa C807T SNP was examined in 2689 healthy Caucasians aged 17-39 years (n = 979; 505 males and 474 females), 40-59 years (n = 900; 526 males and 374 females), and 60-85 years (n = 810; 530 males and 280 females)
Conclusions
No statistically significant decrease in genotype or allele frequency was observed
Identifier
C807T
Cytogenetic Location
5q11.2
UCSC Genome Browser
View 5q11.2 on the UCSC genome browser

Gene details

HGNC symbol
ITGA2
Aliases
BR; GPIa; CD49B; HPA-5; VLA-2; VLAA2 
Common name
integrin subunit alpha 2 
Description
This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
OMIM
192974
Ensembl
ENSG00000164171
UniProt/Swiss-Prot
ITA2_HUMAN
Entrez Gene
3673
UniGene
482077
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
itga2.2
Mus musculus
Itga2
Rattus norvegicus
Itga2

References

Hessner et al. (2001)

Other variants which are also part of this study