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SERPINF2 Gene

protein-coding   GIFtS: 63
GCID: GC17P001646

Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin,...

(Previous names: serine (or cysteine) proteinase inhibitor, clade F (alpha-2...)
(Previous symbol: PLI)
  See SERPINF2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment
Epithelium Derived Factor), Member 21 2
     A2AP2
PLI1 2 3 5     ALPHA-2-PI2
Alpha-2-Plasmin Inhibitor1 2 3     API2
Serine (Or Cysteine) Proteinase Inhibitor, Clade F (Alpha-2 Antiplasmin,
Pigment Epithelium Derived Factor), Member 21 2
     alpha-2-AP2
alpha-2-antiplasmin1 2     Alpha-2-AP3
Serpin F22 3     Alpha-2-PI3
AAP2 3     

External Ids:    HGNC: 90751   Entrez Gene: 53452   Ensembl: ENSG000001677117   OMIM: 6131685   UniProtKB: P086973   

Export aliases for SERPINF2 gene to outside databases

Previous GC identifers: GC17P001921 GC17P001982 GC17P001596 GC17P001852 GC17P001824 GC17P001593


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2) is a protein-coding gene. Diseases associated with SERPINF2 include angina pectoris, and anti-plasmin deficiency, congenital. GO annotations related to this gene include protein homodimerization activity and protease binding. An important paralog of this gene is SERPING1.

UniProtKB/Swiss-Prot: A2AP_HUMAN, P08697
Function: 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 (Alpha 2-antiplasmin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NT_187611.1  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINF2 gene promoter:
         GR   p53   GR-beta   CUTL1   E2F   E2F-1   STAT3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINF2 promoter sequence
   Search Chromatin IP Primers for SERPINF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

SERPINF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINF2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P001646:  view genomic region     (about GC identifiers)

Start:
1,646,130 bp from pter      End:
1,658,562 bp from pter
Size:
12,433 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: A2AP_HUMAN, P08697 (See protein sequence)
Recommended Name: Alpha-2-antiplasmin precursor  
Size: 491 amino acids; 54566 Da
Subunit: Forms protease inhibiting heterodimer with TMPRSS7
Secondary accessions: B4E1B7 Q8N5U7 Q9UCG2 Q9UCG3
Alternative splicing: 2 isoforms:  P08697-1   P08697-2   

Explore the universe of human proteins at neXtProt for SERPINF2: NX_P08697

Explore proteomics data for SERPINF2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn126, Asn295, Asn309, Asn316
  • Modification sites at PhosphoSitePlus

  • See SERPINF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000925.2  NP_001159392.1  NP_001159393.1  

    ENSEMBL proteins: 
     ENSP00000402286   ENSP00000403877   ENSP00000402056   ENSP00000371493   ENSP00000321853  
    Reactome Protein details: P08697

    SERPINF2 Human Recombinant Protein Products:

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    Sino Biological Cell Lysate for SERPINF2
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    antibodies-online proteins for SERPINF2 (10 products) 

     
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    antibodies-online kits for SERPINF2 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P08697

    ProtoNet protein and cluster: P08697

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: A2AP_HUMAN, P08697
    Similarity: Belongs to the serpin family


    Find genes that share domains with SERPINF2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: A2AP_HUMAN, P08697
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI134998
    GO:0004866endopeptidase inhibitor activity TAS2830248
    GO:0004867serine-type endopeptidase inhibitor activity NAS12878203
    GO:0005515protein binding IPI12878203
    GO:0042803protein homodimerization activity IPI134998
         
    Find genes that share ontologies with SERPINF2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SERPINF2:
     Decreased nuclei size in G2M 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Serpinf2):
     homeostasis/metabolism 

    Find genes that share phenotypes with SERPINF2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Serpinf2tm1Hrl for SERPINF2

       genOway: Develop your customized and physiologically relevant rodent model for SERPINF2

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    hsa-miR-3934 hsa-miR-125a-3p hsa-miR-520d-5p hsa-miR-764 hsa-miR-449a hsa-miR-1276 hsa-miR-34b hsa-miR-548c-3p
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    A2AP_HUMAN, P08697: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    cytosol1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005577fibrinogen complex IDA17317851
    GO:0005615extracellular space IDA6980881
    GO:0009986cell surface IDA17958745
    GO:0031093platelet alpha granule lumen TAS--

    Find genes that share ontologies with SERPINF2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPINF2 About    
    See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    2Formation of Fibrin Clot (Clotting Cascade)
    Blood Coagulation Signaling Pathways0.51
    Blood Clotting Cascade0.42
    3Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    4Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    5Dissolution of Fibrin Clot
    Dissolution of Fibrin Clot


    Find genes that share SuperPaths with SERPINF2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SERPINF2
        Blood Coagulation Signaling Pathways


    2 BioSystems Pathways for SERPINF2
        Blood Clotting Cascade
    Complement and Coagulation Cascades


    2 Reactome Pathways for SERPINF2
        Platelet degranulation
    Dissolution of Fibrin Clot


    1 Kegg Pathway  (Kegg details for SERPINF2):
        Complement and coagulation cascades

        Pathway & Disease-focused RT2 Profiler PCR Array including SERPINF2: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SERPINF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SERPINF2 (P086973 ENSP000003218534) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DEFA1P596653, ENSP000003721264I2D: score=1 STRING: ENSP00000372126
    F13A1P004883, ENSP000002648704I2D: score=2 STRING: ENSP00000264870
    DEFA1BP596653I2D: score=1 
    FGAP026713, ENSP000003063614I2D: score=1 STRING: ENSP00000306361
    PLGP007473, ENSP000003089384I2D: score=2 STRING: ENSP00000308938
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002034regulation of blood vessel size by renin-angiotensin ISS--
    GO:0002576platelet degranulation TAS--
    GO:0006953acute-phase response IEA--
    GO:0007596blood coagulation TAS--
    GO:0010033response to organic substance IEA--

    Find genes that share ontologies with SERPINF2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPINF2 (A2AP)

    1 DrugBank Compound for SERPINF2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ocriplasmin -- 1048016-9-6targetligand--

    Selected Novoseek inferred chemical compound relationships for SERPINF2 gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 89.8 248 18564219 (5), 2125758 (4), 7692999 (3), 7529848 (3) (see all 99)
    epsilon aminocaproic acid 78.4 12 15915719 (3), 17100317 (1), 1939207 (1), 18613223 (1) (see all 6)
    eaca 66.8 4 9156934 (1), 1377955 (1), 11435135 (1), 18613223 (1)
    fibrinopeptide a 63.5 3 7516205 (1), 7952409 (1)
    aprotinin 56.3 14 12891467 (3), 7539609 (2), 1716481 (1), 7540230 (1) (see all 10)
    ristocetin 50 2 17586991 (1)
    kininogen 49.3 6 1391957 (1), 8738592 (1), 1466361 (1), 8400086 (1) (see all 6)
    heparin 45 9 8770836 (1), 2365816 (1), 1391957 (1), 17655281 (1) (see all 6)
    lysine 41.7 8 19257897 (2), 7549063 (1), 1703440 (1), 9765841 (1)
    serine 36.7 1 1377955 (1)



    Find genes that share compounds with SERPINF2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SERPINF2 gene (3 alternative transcripts): 
    NM_000934.3  NM_001165920.1  NM_001165921.1  

    Unigene Cluster for SERPINF2:

    Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
    Hs.159509  [show with all ESTs]
    Unigene Representative Sequence: NM_001165920
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453066 ENST00000450523 ENST00000453723 ENST00000382061(uc021tnm.1)
    ENST00000324015(uc002ftk.1 uc010vqr.1)
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    hsa-miR-3934 hsa-miR-125a-3p hsa-miR-520d-5p hsa-miR-764 hsa-miR-449a hsa-miR-1276 hsa-miR-34b hsa-miR-548c-3p
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    Additional mRNA sequence: 

    AK124987.1 AK303763.1 BC031592.1 D00116.1 D00174.1 J02654.1 

    6 DOTS entries:

    DT.95156337  DT.215147  DT.92423531  DT.101961546  DT.75102485  DT.95184530 

    Selected AceView cDNA sequences (see all 98):

    CB157473 AL531258 R83021 R29277 D00116 CR617307 AI081521 R29305 
    CB157447 AA910278 BX107460 CB162683 CB156019 BX448893 CB240641 BX433337 
    AI792928 AA913100 AW295403 AA295388 R83072 BI761280 J02654 BU839492 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SERPINF2    About this scheme

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


    ECgene alternative splicing isoforms for SERPINF2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SERPINF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTCCTTAA
    SERPINF2 Expression
    About this image

    SERPINF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.159509

    UniProtKB/Swiss-Prot: A2AP_HUMAN, P08697
    Tissue specificity: Expressed by the liver and secreted in plasma

        Pathway & Disease-focused RT2 Profiler PCR Array including SERPINF2: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINF2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SERPINF2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpinf21 , 5 serine (or cysteine) peptidase inhibitor, clade F, more1, 5 81.19(n)1
    74.54(a)1
      11 (45.89 cM)5
    188161  NM_008878.21  NP_032904.11 
     754317325 
    chicken
    (Gallus gallus)
    Aves SERPINF21 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, more 60.54(n)
    54.42(a)
      100857105  XM_003642399.2  XP_003642447.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia serpinf21 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, more 56.16(n)
    48.37(a)
      100170598  XM_002937147.2  XP_002937193.1 
    zebrafish
    (Danio rerio)
    Actinopterygii serpinf2a1 serine (or cysteine) peptidase inhibitor, clade F, more 50.19(n)
    44.44(a)
      560308  XM_683705.5  XP_688797.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spn27A6
    Spn88Eb6
    (see all 3)
    Serpin 88Eb
    (see all 3)
    23(a)
    22(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2L(6671065-6673347)
    3R(11032418-11034484)


    ENSEMBL Gene Tree for SERPINF2 (if available)
    TreeFam Gene Tree for SERPINF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINF2 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPINA52  SERPIND12  SERPINA42  SERPINA32  SERPINA62  
    3 SIMAP similar genes for SERPINF2 using alignment to 3 protein entries:     A2AP_HUMAN (see all proteins):
    SERPINB1    SERPINB11    SERPINB9

    Find genes that share paralogs with SERPINF2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SERPINF2 (see all 552)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0132554
    Alpha-2-plasmin inhibitor deficiency (APLID)4--see VAR_0132552 V M mis40--------
    rs129369441,2
    C--1541762(+) TGAGGC/AGCAGG 3 -- us2k12Minor allele frequency- A:0.25NA 4
    rs612431691,2
    C,F--1541807(+) TGAGGC/AGCCGG 3 -- us2k12Minor allele frequency- A:0.50NA 4
    rs129371841,2
    C--1541810(+) GGAGCC/AGGACA 3 -- us2k11Minor allele frequency- A:0.50NA 2
    rs2004807541,2
    C--1542154(+) CTGATG/TCAGGG 3 -- us2k10--------
    rs1412465061,2
    C--1542167(+) TGAGGA/CGCAGG 3 -- us2k10--------
    rs1995069661,2
    C--1542328(+) TGGCCC/TGATGC 3 -- us2k10--------
    rs1996215081,2
    C--1644408(+) AAGGGC/GCCTGA 3 -- us2k10--------
    rs1908189001,2
    --1644431(+) GGAGCA/CGGACA 3 -- us2k10--------
    rs770164321,2
    C--1644518(+) TGAGGA/CGCAGG 3 -- us2k12Minor allele frequency- C:0.25NA 4

    HapMap Linkage Disequilibrium report for SERPINF2 (1646130 - 1658562 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SERPINF2 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667330CNV Deletion23128226
    esv2715481CNV Deletion23290073
    esv2663369CNV Deletion23128226
    nsv1946CNV Insertion18451855
    dgv3033n71CNV Loss21882294
    nsv516886CNV Loss19592680
    nsv907511CNV Loss21882294
    nsv470568CNV Loss18288195
    nsv9490CNV Loss18304495
    nsv907521CNV Gain21882294

    Human Gene Mutation Database (HGMD): SERPINF2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPINF2
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613168   
    OMIM disorders: 262850  
    UniProtKB/Swiss-Prot: A2AP_HUMAN, P08697
  • Alpha-2-plasmin inhibitor deficiency (APLID) [MIM:262850]: An autosomal recessive disorder resulting in
    severe hemorrhagic diathesis. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 13 diseases for SERPINF2:    
    About MalaCards
    angina pectoris    anti-plasmin deficiency, congenital    hereditary cerebral hemorrhage with amyloidosis    acute poststreptococcal glomerulonephritis
    pulmonary embolism    thrombophlebitis    factor xiii deficiency    thrombotic thrombocytopenic purpura
    miller-dieker syndrome    thrombocytosis    schistosomiasis    acute myocardial infarction
    bullous pemphigoid

    4 diseases from the University of Copenhagen DISEASES database for SERPINF2:
    Disseminated intravascular coagulation     Periodontal disease     Myocardial infarction     Vascular disease

    Find genes that share disorders with SERPINF2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SERPINF2 gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    disseminated intravascular coagulation 58.3 3 2202206 (1), 8481516 (1), 8710052 (1)
    coagulopathy 58.3 3 8328647 (1), 2315889 (1), 1693328 (1)
    thrombosis 54.6 4 7692999 (1), 7495059 (1), 11474570 (1), 17883703 (1)
    platelet aggregation, spontaneous 54 2 1603102 (1), 1758145 (1)
    venous occlusion 51.5 6 7618616 (1), 8059288 (1), 1563856 (1), 8444504 (1)
    bleeding tendency 50.3 3 1615471 (1), 7549066 (1)
    acute myocardial infarction 50.2 2 8261210 (1), 1691750 (1)
    bleeding 49.3 26 7682569 (4), 7865673 (2), 18613223 (2), 2240694 (2) (see all 15)
    hypofibrinogenemia 43 2 8157787 (1), 8710052 (1)
    thrombophilia 42 1 7514043 (1)

    Genetic Association Database (GAD): SERPINF2
    Human Genome Epidemiology (HuGE) Navigator: SERPINF2 (5 documents)

    Export disorders for SERPINF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SERPINF2 gene, integrated from 10 sources (see all 408):
    (articles sorted by number of sources associating them with SERPINF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel missense mutation in the human plasmin inhibitor (alpha2- antiplasmin) gene associated with a bleeding tendency. (PubMed id 10583218)1, 2, 4 Lind B. and Thorsen S. (Br. J. Haematol. 1999)
    2. Assignment of a single disulphide bridge in human alpha2-antiplasmin: implications for the structural and functional properties. (PubMed id 9169621)1, 2, 9 Christensen S....Enghild J.J. (Biochem. J. 1997)
    3. Bovine alpha 2-antiplasmin. N-terminal and reactive site sequence. (PubMed id 1385210)1, 2, 9 Christensen S. and Sottrup-Jensen L. (FEBS Lett. 1992)
    4. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Association studies between the plasmin genes and late-onset Alzheimer's disease. (PubMed id 16828203)1, 4 Shibata N....Rogaeva E. (Neurobiol. Aging 2007)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    8. Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity. (PubMed id 15853774)1, 2 Szabo R.... Bugge T.H. (Biochem. J. 2005)
    9. Different N-terminal forms of alpha 2-plasmin inhibitor in human plasma. (PubMed id 8484741)1, 2 Bangert K.... Thorsen S. (Biochem. J. 1993)
    10. 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. (PubMed id 2572590)1, 2 Miura O.... Aoki N. (J. Biol. Chem. 1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5345 HGNC: 9075 AceView: SERPINF2 Ensembl:ENSG00000167711 euGenes: HUgn5345
    ECgene: SERPINF2 Kegg: 5345 H-InvDB: SERPINF2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SERPINF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SERPINF2 gene:
    Search GeneIP for patents involving SERPINF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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