Gene: SERPINF2

Alternate names for this Gene: A2AP|AAP|ALPHA-2-PI|API|PLI

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: serpin family F member 2

Type of Gene: protein-coding

rs121965062 in SERPINF2 gene and ALPHA-2-PLASMIN INHIBITOR DEFICIENCY PMID 2572590 1989 Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.

PMID 10583218 1999 A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency.

rs8074026 in SERPINF2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs8074026 in SERPINF2 gene and Creutzfeldt-Jakob disease PMID 22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.

rs8074026 in SERPINF2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7212936 in SERPINF2 gene and Serum albumin measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs7212936 in SERPINF2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.