Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SERPINF2 Gene

Aliases for SERPINF2 Gene

  • Serpin Family F Member 2 2 3 5
  • Alpha-2-Plasmin Inhibitor 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-Antiplasmin 2 3
  • ALPHA-2-PI 3 4
  • Alpha-2-AP 3 4
  • Serpin F2 3 4
  • PLI 3 4
  • AAP 3 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 Intestinal Impaction. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include protein homodimerization activity and protease binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINF2 Gene

Genomics for SERPINF2 Gene

Regulatory Elements for SERPINF2 Gene

Enhancers for SERPINF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F001720 0.5 ENCODE 32.8 -21.6 -21633 1.0 BCOR CTCF ESRRA SAP130 ARID4B ZNF384 THRB ZNF2 RAD21 ZEB1 SERPINF2 RPA1 SMYD4 TLCD2 MIR22 MIR22HG ENSG00000262791
GH17F001712 1.1 FANTOM5 ENCODE 32.5 -27.0 -27033 7.0 MLX CREB3L1 YBX1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 SMYD4 RPA1 SERPINF2 TLCD2 METTL16 SERPINF1 TSR1 HIC1 GEMIN4 SMG6
GH17F001744 0.4 ENCODE 28.7 +2.0 1998 0.5 CTCF ZNF263 SIN3A NR3C1 ZNF354C RBAK IKZF1 ZNF341 SERPINF2 METTL16 SMYD4 RPA1 SMG6 CRK SERPINF1
GH17F001742 0.4 ENCODE 26.7 -0.1 -76 1.3 TBP MLX ARID4B DMAP1 THRB RAD21 DNMT3B RARA YY1 GLIS2 SERPINF2 ENSG00000262791
GH17F001735 1 Ensembl ENCODE 26 -6.0 -5981 2.7 PKNOX1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 ZNF143 SP5 NFYC SERPINF2 TLCD2 ENSG00000262791 MIR22 MIR22HG
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SERPINF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SERPINF2 Gene

Chromosome:
17
Start:
1,742,807 bp from pter
End:
1,755,268 bp from pter
Size:
12,462 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 Asn 126, Asn 295, Asn 309, and Asn 316
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SERPINF2 (Serpin F2/alpha 2-Antiplasmin)
  • Cloud-Clone Corp. Antibodies for SERPINF2

No data available for DME Specific Peptides for SERPINF2 Gene

Domains & Families for SERPINF2 Gene

Gene Families for SERPINF2 Gene

Protein Domains for SERPINF2 Gene

Suggested Antigen Peptide Sequences for SERPINF2 Gene

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.

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 NAS,TAS --
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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for SERPINF2 Gene COMPARTMENTS Subcellular localization image for SERPINF2 gene
Compartment Confidence
extracellular 5
cytosol 2
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SERPINF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS,TAS --
GO:0005577 fibrinogen complex IDA 17317851
GO:0005615 extracellular space IEA,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 --
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

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

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

(21) 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

Unigene Clusters for SERPINF2 Gene

Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with SERPINF2: view

Primer Products

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 34 35
  • 94.12 (n)
dog
(Canis familiaris)
Mammalia SERPINF2 34 35
  • 86.42 (n)
cow
(Bos Taurus)
Mammalia SERPINF2 34 35
  • 85.53 (n)
mouse
(Mus musculus)
Mammalia Serpinf2 34 16 35
  • 81.19 (n)
rat
(Rattus norvegicus)
Mammalia Serpinf2 34
  • 81.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINF2 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINF2 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINF2 34 35
  • 60.54 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia serpinf2 34
  • 56.16 (n)
zebrafish
(Danio rerio)
Actinopterygii serpinf2a 34 35
  • 50.19 (n)
serpinf2b 35
  • 35 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Spn27A 35
  • 23 (a)
ManyToMany
Spn5 35
  • 22 (a)
ManyToMany
Spn88Eb 35
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10120 35
  • 23 (a)
ManyToMany
-- 35
  • 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)

Paralogs for SERPINF2 Gene

Paralogs for SERPINF2 Gene

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

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 Sequence Context AA Info Type
rs121965062 Pathogenic, Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850] 1,754,289(+) TCAGC(A/G)TGAAC reference, missense
rs121965061 Pathogenic 1,747,323(+) TCAAA(-/GAA)GATTT cds-indel
rs148395057 Likely benign 1,754,165(+) ATCTC(C/G/T)GAGCA reference, synonymous-codon
rs1057335 Benign 1,754,359(+) CGTGA(A/G)GAACC reference, missense
rs2070862 Benign 1,745,000(+) CATGG(C/T)GCTGC reference, missense

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)

Relevant External Links 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

(31) MalaCards diseases for SERPINF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-2-plasmin inhibitor deficiency
  • antiplasmin defiency
intestinal impaction
gingival disease
  • gingiva disorder
gingival recession
  • gingival recession nos
factor xiii deficiency
  • deficiency, laki-lorand factor
- 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.

Relevant External Links for SERPINF2

Genetic Association Database (GAD)
SERPINF2
Human Genome Epidemiology (HuGE) Navigator
SERPINF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINF2
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. (Br. J. Haematol. 1999) 3 4 46 64
  2. Assignment of a single disulphide bridge in human alpha2-antiplasmin: implications for the structural and functional properties. (PMID: 9169621) Christensen S. … Enghild J.J. (Biochem. J. 1997) 3 4 22 64
  3. Bovine alpha 2-antiplasmin. N-terminal and reactive site sequence. (PMID: 1385210) Christensen S. … Sottrup-Jensen L. (FEBS Lett. 1992) 3 4 22 64
  4. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for SERPINF2 Gene

Sources for SERPINF2 Gene

Content
Loading form....