LongevityMap Gene
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]
- Cytogenetic Location
- 13q34
- UCSC Genome Browser
- View 13q34 on the UCSC genome browser
- OMIM
- 613878
- Ensembl
- ENSG00000057593
- UniProt/Swiss-Prot
- B4DPM2_HUMAN
- Entrez Gene
- 2155
- UniGene
- 36989
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- F7 (1 of many)
- Danio rerio
- f7
- Mus musculus
- F7
- Rattus norvegicus
- F7
Studies (5)
Significant/Non-significant: 1/4
Study 1
- Longevity Association
- Non-significant
- Population
- Italian
- Study Design
- The R353Q substitution polymorphism in exon 8 was examined in 124 healthy individuals over 100 years of age and 130 young, healthy individuals
- Conclusions
- No significant differences relative to longevity were found
- Indentifier
- R353Q
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- The R353Q substitution, intron 7 (37bp)n, and -323ins10 polymorphisms were examined in 187 centenarians and 201 healthy controls, aged 20-64 years (mean age 42 years).
- Conclusions
- The genotype frequencies in the centenarians and in the controls were similar
- Indentifier
- R353Q
- Reference
Study 3
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- Polymorphisms were examined in 187 centenarians (47 males and 140 females) and 201 controls (20-64 years)
- Conclusions
- No association with longevity was found
- Indentifier
- F7
- Reference
Study 4
- Longevity Association
- Non-significant
- Population
- Ashkenazi Jewish (Jerusalem)
- Study Design
- Arg/Gln R353Q SNP was examined in 224 older (>75 years) Jewish Jerusalem residents of Ashkenazi ethnicity (150 males and 74 females) and a group of 441 younger subjects (22 years)
- Conclusions
- There was a decrease in the percentage of the A allele in older Ashkenazi male subjects and a corresponding marked decrease (9.7-2.1%) in the percentage of AA homozygotes, though this was not significant after correcting for multiple testing
- Indentifier
- Arg/Gln R353Q
- Reference
Study 5
- 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
- Indentifier
- R/Q353
- Reference