LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Blood coagulation factor VII (FVII) R/Q353 and FVII-323ins10 SNPs were examined in 187 centenarians (47 males and 140 females) and 201 controls (20-64 years)
Conclusions
R/Q353 and FVII-323ins10 manifest significant influences on survival in males, with reduced hazards of death for carriers of the Q353 allele and the FVII-323P10 allele

Variants (2)

1.
Identifier
R/Q353
Cytogenetic Location
13q34
UCSC Genome Browser
View 13q34 on the UCSC genome browser
2.
Identifier
FVII-323ins10
Cytogenetic Location
13q34
UCSC Genome Browser
View 13q34 on the UCSC genome browser

Gene details

HGNC symbol
F7
Aliases
SPCA 
Common name
coagulation factor VII 
Description
This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
Other longevity studies of this gene
5
OMIM
613878
Ensembl
ENSG00000057593
UniProt/Swiss-Prot
B4DPM2_HUMAN
Entrez Gene
2155
UniGene
36989
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
F7 (1 of many)
Danio rerio
f7
Mus musculus
F7
Rattus norvegicus
F7

References

Tan et al. (2001)

Other variants which are also part of this study