SERPINF2 (serpin family F member 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5345
Gene name Serpin family F member 2
Gene symbol SERPINF2
Synonyms (NCBI Gene)
A2APAAPALPHA-2-PIAPIPLIalpha2AP
Chromosome 17
Chromosome location 17p13.3
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
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs121965061 AGA>- Pathogenic Coding sequence variant, inframe deletion
rs121965062 G>A Pathogenic Coding sequence variant, missense variant
rs148395057 C>G,T Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs1597325785 GGCAA>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
58
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (58)
miRTarBase ID miRNA Experiments Reference
MIRT437913 hsa-miR-224-5p qRT-PCRWestern blot 24785373
MIRT662475 hsa-miR-4687-5p HITS-CLIP 23824327
MIRT662474 hsa-miR-6887-3p HITS-CLIP 23824327
MIRT662473 hsa-miR-6892-3p HITS-CLIP 23824327
MIRT662472 hsa-miR-6832-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (49)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 134998, 6980881, 7679575, 15853774, 17317851
GO:0002034 Process Maintenance of blood vessel diameter homeostasis by renin-angiotensin IEA
GO:0002034 Process Maintenance of blood vessel diameter homeostasis by renin-angiotensin ISS
GO:0004866 Function Endopeptidase inhibitor activity IDA 7679575
GO:0004866 Function Endopeptidase inhibitor activity TAS 2830248
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613168 9075 ENSG00000167711
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08697
Protein name Alpha-2-antiplasmin (Alpha-2-AP) (Alpha-2-plasmin inhibitor) (Alpha-2-PI) (Serpin F2)
Protein function Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 84 → 436 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades   Platelet degranulation
Dissolution of Fibrin Clot
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal bleeding Pathogenic rs1597325785 RCV000851601
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-2-plasmin inhibitor deficiency Pathogenic rs2543443583, rs121965061, rs121965062 RCV000000298
RCV000000299
RCV000000300
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTI-PLASMIN DEFICIENCY, CONGENITAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ALPHA-2-ANTIPLASMIN DEFICIENCY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (80)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY Alpha-2-Plasmin Inhibitor Deficiency BEFREE 10583218, 12544738
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY Alpha-2-Plasmin Inhibitor Deficiency UNIPROT_DG 10583218, 2572590
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY Alpha-2-Plasmin Inhibitor Deficiency ORPHANET_DG 11472338, 17961166
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY Alpha-2-Plasmin Inhibitor Deficiency GENOMICS_ENGLAND_DG 17961166
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY Alpha-2-Plasmin Inhibitor Deficiency CTD_human_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY Alpha-2-Plasmin Inhibitor Deficiency CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alzheimer Disease Alzheimer disease Pubtator 25129075 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angioedemas, Hereditary Angioedema BEFREE 2935973, 6517610
★★★★★
★☆☆☆☆
Found in Text Mining only
Anti-plasmin deficiency, congenital Anti-Plasmin Deficiency, Congenital CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 25065555, 28834317, 29306602
★★★★★
★☆☆☆☆
Found in Text Mining only