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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SERPINF2 Gene

protein-coding   GIFtS: 62
GCID: GC17P001593

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

(Previous names: serine (or cysteine) proteinase inhibitor, clade F (alpha-2...)
(Previous symbol: PLI)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 blood clots, and acute poststreptococcal glomerulonephritis, and among its related super-pathways are Complement and Coagulation Cascades and Blood Coagulation Signaling Pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SERPINF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC17P001593:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08697

  • SERPINF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SERPINF2 Protein Expression
    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
    Human Recombinant Protein Products for SERPINF2: 
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    Novus Biologicals SERPINF2 Protein
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    Sino Biological Recombinant Protein for SERPINF2
    Sino Biological Cell Lysate for SERPINF2 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    SERPINF2 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    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


    SERPINF2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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
         
    SERPINF2 for ontologies           About GeneDecksing


    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 

    SERPINF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Serpinf2tm1Hrl for SERPINF2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SERPINF2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SERPINF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINF2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINF2 

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    SwitchGear 3'UTR luciferase reporter plasmidSERPINF2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    3Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    4Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43
    5Dissolution of Fibrin Clot
    Dissolution of Fibrin Clot

    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


    5        Reactome Pathways for SERPINF2
        Hemostasis
    Platelet degranulation
    Dissolution of Fibrin Clot
    Platelet activation, signaling and aggregation
    Response to elevated platelet cytosolic Ca2+


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


    SERPINF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPINF2

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

    5/53 Interacting proteins for SERPINF2 (P086973 ENSP000003218534) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    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): 5/22 biological process terms (GO ID links to tree view) (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--

    SERPINF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SERPINF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERPINF2 (A2AP)

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

    10/36 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)

    Search CenterWatch for drugs/clinical trials and news about SERPINF2 / A2AP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 

    24/98 AceView cDNA sequences (see all 98):

    CR617307 R83021 CB157447 BX107460 AA910278 R29277 R29305 CB157473 
    D00116 AI081521 AL531258 CB240641 BI761280 BU839492 AA343040 R83072 
    AA295388 AL564479 BI760572 BC031592 AI133160 BX452421 CB162683 AL579976 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SERPINF2 expression in normal human tissues (normalized intensities)      SERPINF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTCCTTAA
    SERPINF2 Expression
    About this image


    SERPINF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Human Hepatocyte (HH)   
     
     Pancreas (Endocrine System)
             Pancreatic endoderm/endocrine precursor-like cells ( A scalable, suspension protocol...
     
     Uterus (Reproductive System)
             cervix   
     
     Kidney (Urinary System)

    See SERPINF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPINF2

    SOURCE GeneReport for Unigene cluster: Hs.159509

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

        SABiosciences Expression via Pathway-Focused PCR Array including SERPINF2: 
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SERPINF2 gene from 3/9 species (see all 9)    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_003642399.1  XP_003642447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii serpinf2a1 serine (or cysteine) peptidase inhibitor, clade F, more 48.36(n)
    42.35(a)
      560308  XM_683705.4  XP_688797.1 


    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)
    About This Section
    Paralogs for SERPINF2 gene
    SERPING12  SERPINA12  SERPINH12  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

    SERPINF2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/552 SNPs in SERPINF2 are shown (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--------
    VAR_0132524
    ----see VAR_0132522 A V 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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/70 diseases for SERPINF2 (see all 70):    About MalaCards
    blood clots    acute poststreptococcal glomerulonephritis    alpha-1-antichymotrypsin deficiency    thrombophlebitis
    hereditary cerebral hemorrhage with amyloidosis    pulmonary embolism    cerebral hemorrhage    miller-dieker syndrome
    thrombotic thrombocytopenic purpura    hemorrhagic disease    factor xiii deficiency    thrombocytosis
    schistosomiasis    bullous pemphigoid    nephrosis    disseminated intravascular coagulation
    fabry disease    protein c deficiency    acute myocardial infarction    thromboembolism

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

    SERPINF2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/43 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)
    About This Section

    PubMed articles for SERPINF2 gene, integrated from 9 sources (see all 405):
    (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. (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. (1997)
    3. Bovine alpha 2-antiplasmin. N-terminal and reactive site sequence. (PubMed id 1385210)1, 2, 9 Christensen S. and Sottrup-Jensen L. (1992)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Association studies between the plasmin genes and late-onset Alzheimer's disease. (PubMed id 16828203)1, 4 Shibata N....Rogaeva E. (2007)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    7. 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. (2005)
    8. Different N-terminal forms of alpha 2-plasmin inhibitor in human plasma. (PubMed id 8484741)1, 2 Bangert K.... Thorsen S. (1993)
    9. 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. (1989)
    10. Assignment of the human alpha 2-plasmin inhibitor gene (PLI) to chromosome region 18p11.1----q11.2 by in situ hybridization. (PubMed id 3416655)1, 3 Kato A....Aoki N. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5345 HGNC: 9075 AceView: SERPINF2 Ensembl:ENSG00000167711 euGenes: HUgn5345
    ECgene: SERPINF2 Kegg: 5345 H-InvDB: SERPINF2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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