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 sev... See more...

Aliases for SERPINF2 Gene

Aliases for SERPINF2 Gene

  • Serpin Family F Member 2 2 3 5
  • Alpha-2-Plasmin Inhibitor 2 3 4
  • Alpha-2-Antiplasmin 2 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 2 2 3
  • Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 2 2 3
  • Alpha-2-AP 3 4
  • Serpin F2 3 4
  • PLI 3 4
  • AAP 3 4
  • Plasmin Inhibitor 3
  • ALPHA-2-PI 3
  • Alpha-2-PI 4
  • A2AP 3
  • API 3

External Ids for SERPINF2 Gene

Previous HGNC Symbols for SERPINF2 Gene

  • PLI

Previous GeneCards Identifiers for SERPINF2 Gene

  • GC17P001921
  • GC17P001982
  • GC17P001596
  • GC17P001852
  • GC17P001824
  • GC17P001593
  • GC17P001646

Summaries for SERPINF2 Gene

Entrez Gene Summary for SERPINF2 Gene

  • 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]

GeneCards Summary for SERPINF2 Gene

SERPINF2 (Serpin Family F Member 2) is a Protein Coding gene. Diseases associated with SERPINF2 include Alpha-2-Plasmin Inhibitor Deficiency and Anti-Plasmin Deficiency, Congenital. Among its related pathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protease binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot Summary for SERPINF2 Gene

  • Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.

Gene Wiki entry for SERPINF2 Gene

Additional gene information for SERPINF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINF2 Gene

Genomics for SERPINF2 Gene

GeneHancer (GH) Regulatory Elements for SERPINF2 Gene

Promoters and enhancers for SERPINF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J001742 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 776.6 -0.1 -75 1.3 MLX FOXA1 RBPJ NR2F1 NR2F6 NFYC RAD21 POLR2A SP1 HNF1A SERPINF2 RF00017-2212 piR-32214-260 ENSG00000262791
GH17J001744 Enhancer 0.2 ENCODE 778.6 +2.0 1998 0.5 SERPINF2 RF00017-2212 piR-32214-260 piR-57460-259
GH17J001712 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 32.5 -27.0 -27033 7 SIN3A SP1 CTCF SREBF1 SIX5 LCORL ZBTB6 FOXA1 MLX SMARCE1 WDR81 MIR22 MIR22HG SMYD4 PRPF8 GEMIN4 RPA1 METTL16 SERPINF2 SMG6
GH17J001720 Promoter/Enhancer 1.1 Ensembl ENCODE 32.8 -21.8 -21776 1.3 CTCF RAD21 MLLT1 SP7 ZNF384 RXRA REST TRIM22 GATAD2A ZNF143 SERPINF2 RPA1 SMYD4 TLCD2 MIR22HG WDR81 lnc-TLCD2-6
GH17J001735 Enhancer 1.3 Ensembl ENCODE dbSUPER 26 -6.1 -6106 3.4 SIN3A SP1 FOXA1 MLX SMARCE1 RBPJ NR2F1 NR2F6 MIXL1 RELA ENSG00000262791 SERPINF2 TLCD2 lnc-TLCD2-6 WDR81
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINF2 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • GR
  • GR-alpha
  • GR-beta
  • p53
  • STAT3

Genomic Locations for SERPINF2 Gene

Genomic Locations for SERPINF2 Gene
chr17:1,742,807-1,755,268
(GRCh38/hg38)
Size:
12,462 bases
Orientation:
Plus strand
chr17:1,646,130-1,658,562
(GRCh37/hg19)
Size:
12,433 bases
Orientation:
Plus strand

Genomic View for SERPINF2 Gene

Genes around SERPINF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINF2 Gene

Proteins for SERPINF2 Gene

  • Protein details for SERPINF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08697-A2AP_HUMAN
    Recommended name:
    Alpha-2-antiplasmin
    Protein Accession:
    P08697
    Secondary Accessions:
    • B4E1B7
    • Q8N5U7
    • Q9UCG2
    • Q9UCG3

    Protein attributes for SERPINF2 Gene

    Size:
    491 amino acids
    Molecular mass:
    54566 Da
    Quaternary structure:
    • Forms protease inhibiting heterodimer with TMPRSS7.

    Alternative splice isoforms for SERPINF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINF2 Gene

Post-translational modifications for SERPINF2 Gene

  • Proteolytically cleaved at Pro-39 by both the prolyl endopeptidase FAP form and antiplasmin-cleaving enzyme FAP soluble form to generate mature alpha-2-antiplasmin.
  • Glycosylation at Asn126, Asn295, Asn309, and Asn316
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

Protein Products

No data available for DME Specific Peptides for SERPINF2 Gene

Domains & Families for SERPINF2 Gene

Gene Families for SERPINF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SERPINF2 Gene

Suggested Antigen Peptide Sequences for SERPINF2 Gene

GenScript: Design optimal peptide antigens:
  • Serpin F2 (A2AP_HUMAN)
  • cDNA FLJ50942, highly similar to Alpha-2-antiplasmin (B4E1B7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08697

UniProtKB/Swiss-Prot:

A2AP_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINF2: view

Function for SERPINF2 Gene

Molecular function for SERPINF2 Gene

UniProtKB/Swiss-Prot Function:
Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.

Phenotypes From GWAS Catalog for SERPINF2 Gene

Gene Ontology (GO) - Molecular Function for SERPINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 134998
GO:0004866 endopeptidase inhibitor activity TAS 2830248
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IDA --
GO:0005515 protein binding IPI 12878203
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with SERPINF2: view
genes like me logo Genes that share phenotypes with SERPINF2: view

Human Phenotype Ontology for SERPINF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINF2 Gene

MGI Knock Outs for SERPINF2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SERPINF2 Gene

Localization for SERPINF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINF2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINF2 gene
Compartment Confidence
extracellular 5
cytosol 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005577 fibrinogen complex IDA 17317851
GO:0005615 extracellular space IBA,IDA 6980881
GO:0009986 cell surface IDA 17958745
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with SERPINF2: view

Pathways & Interactions for SERPINF2 Gene

genes like me logo Genes that share pathways with SERPINF2: view

Pathways by source for SERPINF2 Gene

Gene Ontology (GO) - Biological Process for SERPINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002034 regulation of blood vessel diameter by renin-angiotensin ISS,IEA --
GO:0002576 platelet degranulation TAS --
GO:0006953 acute-phase response IEA --
GO:0010033 response to organic substance IEA --
GO:0010466 negative regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with SERPINF2: view

No data available for SIGNOR curated interactions for SERPINF2 Gene

Drugs & Compounds for SERPINF2 Gene

(18) Drugs for SERPINF2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 227
Ocriplasmin Approved Pharma Target, ligand 0

(20) Additional Compounds for SERPINF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINF2: view

Transcripts for SERPINF2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: -
SP2:
SP3: - - - -
SP4:

Relevant External Links for SERPINF2 Gene

GeneLoc Exon Structure for
SERPINF2
ECgene alternative splicing isoforms for
SERPINF2

Expression for SERPINF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPINF2 Gene

mRNA differential expression in normal tissues according to GTEx for SERPINF2 Gene

This gene is overexpressed in Liver (x40.4) and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for SERPINF2 Gene

This gene is overexpressed in Serum (17.8), Synovial fluid (17.2), and Monocytes (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERPINF2 Gene



Protein tissue co-expression partners for SERPINF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINF2 Gene:

SERPINF2

SOURCE GeneReport for Unigene cluster for SERPINF2 Gene:

Hs.159509

mRNA Expression by UniProt/SwissProt for SERPINF2 Gene:

P08697-A2AP_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for SERPINF2 Gene

  • Liver(4.8)
  • Bone marrow(4.1)
  • Blood(3.2)
  • Kidney(3.2)
  • Heart(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINF2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • skeleton
Regions:
Thorax:
  • chest wall
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with SERPINF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SERPINF2 Gene

Orthologs for SERPINF2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINF2 33 32
  • 94.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINF2 33 32
  • 86.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINF2 33 32
  • 85.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinf2 17 33 32
  • 81.19 (n)
rat
(Rattus norvegicus)
Mammalia Serpinf2 32
  • 81.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINF2 33
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINF2 33
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINF2 33 32
  • 60.54 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinf2 32
  • 56.16 (n)
zebrafish
(Danio rerio)
Actinopterygii serpinf2a 33 32
  • 50.19 (n)
OneToMany
serpinf2b 33
  • 35 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Spn27A 33
  • 23 (a)
ManyToMany
Spn88Eb 33
  • 22 (a)
ManyToMany
Spn5 33
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10120 33
  • 23 (a)
ManyToMany
-- 33
  • 18 (a)
ManyToMany
Species where no ortholog for SERPINF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERPINF2 Gene

ENSEMBL:
Gene Tree for SERPINF2 (if available)
TreeFam:
Gene Tree for SERPINF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINF2: view image

Paralogs for SERPINF2 Gene

(3) SIMAP similar genes for SERPINF2 Gene using alignment to 3 proteins:

  • A2AP_HUMAN
  • C9JMH6_HUMAN
  • C9JPV4_HUMAN
genes like me logo Genes that share paralogs with SERPINF2: view

Variants for SERPINF2 Gene

Sequence variations from dbSNP and Humsavar for SERPINF2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1057335 benign, not specified, - 1,754,359(+) G/A coding_sequence_variant, missense_variant
rs121965061 pathogenic, Anti-plasmin deficiency, congenital 1,747,321(+) AAGAAGA/AAGA coding_sequence_variant, inframe_deletion
rs121965062 pathogenic, Anti-plasmin deficiency, congenital, Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850] 1,754,289(+) G/A coding_sequence_variant, missense_variant
rs2070862 benign, not specified, - 1,745,000(+) C/T coding_sequence_variant, missense_variant
rs2070863 benign, not specified, - 1,745,208(+) C/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINF2 Gene

Variant ID Type Subtype PubMed ID
esv2663369 CNV deletion 23128226
esv2667330 CNV deletion 23128226
esv2715481 CNV deletion 23290073
esv3553987 CNV deletion 23714750
esv3639698 CNV loss 21293372
nsv1065585 CNV gain 25217958
nsv1127530 CNV deletion 24896259
nsv1145943 CNV deletion 26484159
nsv1946 CNV insertion 18451855
nsv470568 CNV loss 18288195
nsv516886 CNV loss 19592680
nsv833335 CNV gain+loss 17160897
nsv9490 CNV loss 18304495

Variation tolerance for SERPINF2 Gene

Residual Variation Intolerance Score: 49.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.67; 94.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINF2 Gene

Human Gene Mutation Database (HGMD)
SERPINF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINF2 Gene

Disorders for SERPINF2 Gene

MalaCards: The human disease database

(32) MalaCards diseases for SERPINF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-2-plasmin inhibitor deficiency
  • antiplasmin deficiency
anti-plasmin deficiency, congenital
  • alpha-2-plasmin inhibitor deficiency
gingival disease
  • gingival diseases
intestinal impaction
livedoid vasculitis
  • livedoid vasculopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

A2AP_HUMAN
  • Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]: An autosomal recessive disorder resulting in severe hemorrhagic diathesis. {ECO:0000269 PubMed:10583218, ECO:0000269 PubMed:2572590}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SERPINF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SERPINF2: view

No data available for Genatlas for SERPINF2 Gene

Publications for SERPINF2 Gene

  1. A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency. (PMID: 10583218) Lind B … Thorsen S (British journal of haematology 1999) 3 4 43 56
  2. Assignment of a single disulphide bridge in human alpha2-antiplasmin: implications for the structural and functional properties. (PMID: 9169621) Christensen S … Enghild JJ (The Biochemical journal 1997) 3 4 23 56
  3. Bovine alpha 2-antiplasmin. N-terminal and reactive site sequence. (PMID: 1385210) Christensen S … Sottrup-Jensen L (FEBS letters 1992) 3 4 23 56
  4. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3 56
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56

Products for SERPINF2 Gene

Sources for SERPINF2 Gene