F7 coagulation factor VII
Gene ID: 2155, updated on 3-Apr-2024Gene type: protein coding
Also known as: SPCA
- See all available tests in GTR for this gene
- Go to complete Gene record for F7
- Go to Variation Viewer for F7 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital factor VII deficiency | See labs |
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. GeneReviews: Not available | |
| Ischemic stroke is associated with the ABO locus: the EuroCLOT study. GeneReviews: Not available | |
| Myocardial infarction, susceptibility to | See labs |
Genomic context
- Location:
- 13q34
- Sequence:
- Chromosome: 13; NC_000013.11 (113105788..113120685)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for F7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- F7 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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