SERPINF2 serpin family F member 2
Gene ID: 5345, updated on 3-Apr-2024Gene type: protein coding
Also known as: AAP; API; PLI; A2AP; alpha2AP; ALPHA-2-PI
- See all available tests in GTR for this gene
- Go to complete Gene record for SERPINF2
- Go to Variation Viewer for SERPINF2 variants
Summary
This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alpha-2-plasmin inhibitor deficiency | See labs |
| Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. GeneReviews: Not available | |
| Discovery and fine mapping of serum protein loci through transethnic meta-analysis. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. GeneReviews: Not available |
Genomic context
- Location:
- 17p13.3
- Sequence:
- Chromosome: 17; NC_000017.11 (1742871..1755265)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SERPINF2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- SERPINF2 database
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.