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F12 Gene

protein-coding   GIFtS: 69
GCID: GC05M176829

Coagulation Factor XII (Hageman Factor)

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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)
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Aliases
Coagulation Factor XII (Hageman Factor)1 2     Beta-Factor XIIa Part 12
HAF2 3 5     Beta-Factor XIIa Part 22
Hageman Factor2 3     Coagulation Factor XII2
EC 3.4.21.383 8     Coagulation Factor XIIa Heavy Chain2
HAE32 5     Coagulation Factor XIIa Light Chain2
HAEX2     EC 3.4.218

External Ids:    HGNC: 35301   Entrez Gene: 21612   Ensembl: ENSG000001311877   OMIM: 6106195   UniProtKB: P007483   

Export aliases for F12 gene to outside databases

Previous GC identifers: GC05M177202 GC05M177671 GC05M176764 GC05M176810 GC05M176761 GC05M171749


(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 F12 Gene:
This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is
converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy
chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and
a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages
takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor
XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein,
which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa
participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and
angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms
and the sole effect is that whole-blood clotting time is prolonged. (provided by RefSeq, Jul 2008)

GeneCards Summary for F12 Gene:
F12 (coagulation factor XII (Hageman factor)) is a protein-coding gene. Diseases associated with F12 include hereditary angioedema type iii, and factor xii deficiency. GO annotations related to this gene include serine-type aminopeptidase activity and serine-type endopeptidase activity. An important paralog of this gene is PLG.

UniProtKB/Swiss-Prot: FA12_HUMAN, P00748
Function: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation,
fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form
kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor
XIIa. Alpha-factor XIIa activates factor XI to factor XIa

Gene Wiki entry for F12 (Factor XII) 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:
NC_000005.10  NC_018916.2  NT_023133.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the F12 gene promoter:
         Oct-B1   GR   oct-B3   oct-B2   GATA-2   PPAR-gamma1   POU2F1   PPAR-gamma2   GR-alpha   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF12 promoter sequence
   Search Chromatin IP Primers for F12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F12


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

F12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F12 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M176829:  view genomic region     (about GC identifiers)

Start:
176,829,139 bp from pter      End:
176,836,577 bp from pter
Size:
7,439 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FA12_HUMAN, P00748 (See protein sequence)
Recommended Name: Coagulation factor XII precursor  
Size: 615 amino acids; 67792 Da
Subunit: Interacts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by
heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation
2 PDB 3D structures from and Proteopedia for F12:
4BDW (3D)        4BDX (3D)    
Secondary accessions: P78339

Explore the universe of human proteins at neXtProt for F12: NX_P00748

Explore proteomics data for F12 at MOPED

Post-translational modifications: 

  • Factor XII is activated by kallikrein in alpha-factor XIIa, which is then further converted by trypsin into
    beta-factor XIIa. Alpha-factor XIIa is composed of the NH2-terminal heavy chain (Coagulation factor XIIa heavy
    chain) and the COOH-terminal light chain (Coagulation factor XIIa light chain), connected by a disulfide bond.
    Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, a light chain (Beta-factor XIIa part 2),
    corresponding to the COOH-terminal light chain (Coagulation factor XIIa light chain) and a nonapeptide
    (Beta-factor XIIa part 1)1
  • O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to
    GalNAc1
  • Glycosylation2 at Thr109, Asn249, Thr299, Thr305, Ser308, Thr328, Thr329, Thr337, Asn433
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for F12 (P00748) (see all 10)
     CGQRLRK  TAAHCLQ  SGGPLVC  GDSGGPL 


    See F12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000496.2  
    ENSEMBL proteins: 
     ENSP00000253496  
    Reactome Protein details: P00748

    F12 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for F12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR000083 Fibronectin_type1
     IPR001314 Peptidase_S1A
     IPR014394 Coagulation_fac_XIIa/HGFA
     IPR000742 EG-like_dom
     IPR018056 Kringle_CS

    Graphical View of Domain Structure for InterPro Entry P00748

    ProtoNet protein and cluster: P00748

    Selected Blocks protein domains (see all 6):
    IPB000001 Kringle
    IPB000083 Fibronectin
    IPB000562 Type II fibronectin collagen-binding domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: FA12_HUMAN, P00748
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 fibronectin type-I domain
    Similarity: Contains 1 fibronectin type-II domain
    Similarity: Contains 1 kringle domain
    Similarity: Contains 1 peptidase S1 domain


    F12 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA12_HUMAN, P00748
    Function: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation,
    fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form
    kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor
    XIIa. Alpha-factor XIIa activates factor XI to factor XIa
    Catalytic activity: Selective cleavage of Arg- -Ile bonds in factor VII to form factor VIIa and factor XI to form
    factor XIa

         Genatlas biochemistry entry for F12:
    coagulation factor XII,80kDa, (Hageman)

         Enzyme Numbers (IUBMB): EC 3.4.21.381 2 EC 3.4.212

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA18725990
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI--
    GO:0008233peptidase activity ----
         
    F12 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for F12):
     homeostasis/metabolism  nervous system  normal 

    F12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out F12tm1Pbfd for F12

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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
    FA12_HUMAN, P00748: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA6793628
    GO:0005886plasma membrane TAS--

    F12 for ontologies           About GeneDecksing


    (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 F12 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Intrinsic Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Prothrombin Activation Pathway0.00
    Blood Clotting Cascade0.42
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    4Hemostasis
    Hemostasis0.43
    5MSP-RON Signaling
    MSP-RON Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F12
        Blood Coagulation Signaling Pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F12
        MSP-RON Signaling
    Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    1 GeneGo (Thomson Reuters) Pathway for F12
        Cell adhesion Plasmin signaling

    2 BioSystems Pathways for F12
        Blood Clotting Cascade
    Complement and Coagulation Cascades


    1 Reactome Pathway for F12
        Intrinsic Pathway


    1 Kegg Pathway  (Kegg details for F12):
        Complement and coagulation cascades


    F12 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for F12
    Interactions:

        GeneGlobe Interaction Network for F12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for F12 (P007481, 3 ENSP000002534964) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    KLKB1P039523, ENSP000002646904I2D: score=2 STRING: ENSP00000264690
    CD93Q9NPY33, ENSP000002460064I2D: score=1 STRING: ENSP00000246006
    EPAS1Q998143, ENSP000002637344I2D: score=1 STRING: ENSP00000263734
    MMP13P454523, ENSP000002603024I2D: score=1 STRING: ENSP00000260302
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002353plasma kallikrein-kinin cascade IDA18725990
    GO:0002542Factor XII activation IDA18725990
    GO:0006508proteolysis ----
    GO:0007596blood coagulation TAS--
    GO:0007597blood coagulation, intrinsic pathway TAS--

    F12 for ontologies           About GeneDecksing



    (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 F12 (FA12)

    1 HMDB Compound for F12    About this table
    CompoundSynonyms CAS #PubMed Ids
    BradykininCallidin I (see all 5)58-82-2--

    10 Novoseek inferred chemical compound relationships for F12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 85.6 13 10984376 (2), 8505323 (1), 11724506 (1), 17897012 (1) (see all 12)
    kaolin 59 2 11154114 (1)
    serine 30.6 3 20142324 (1), 8733013 (1), 16153533 (1)
    heparin 9.08 1 8215954 (1)
    vitamin-e 1.64 1 10225721 (1)
    histidine 1.06 1 8447816 (1)
    estrogen 0.872 3 11459781 (3)
    fibrinogen 0 3 14524034 (2), 11755949 (1)
    zinc 0 1 7749371 (1)
    aspirin 0 1 11438345 (1)



    F12 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for F12 gene: 
    NM_000505.3  

    Unigene Cluster for F12:

    Coagulation factor XII (Hageman factor)
    Hs.1321  [show with all ESTs]
    Unigene Representative Sequence: NM_000505
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253496(uc003mgo.4) ENST00000502854 ENST00000504406 ENST00000510358
    ENST00000514943 ENST00000503736

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    Additional mRNA sequence: 

    AB095845.1 BC012390.1 BT007350.1 M11723.1 M13147.1 M31315.1 

    10 DOTS entries:

    DT.312633  DT.92424230  DT.95077161  DT.100755217  DT.100755218  DT.120810943  DT.92424226  DT.95263422 
    DT.120810890  DT.92424234 

    Selected AceView cDNA sequences (see all 78):

    BC012390 AW291360 BF530348 CR601747 BM765106 BM563198 BG533735 BM784735 
    BQ276450 BF513608 BG531824 BF529177 BM845361 BM995940 AI984145 NM_000505 
    M13147 BG284731 T56194 BT007350 AL564609 BG248482 BE796109 M11723 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for F12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14
    SP1:                                      -                 -                 -                                 
    SP2:                                                  -     -                 -                                 
    SP3:                                                                          -                                 
    SP4:                                                                                                            


    ECgene alternative splicing isoforms for F12

    (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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    F12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGGCAAGA
    F12 Expression
    About this image


    F12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    F12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1321
        Custom PCR Arrays for F12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F12

    (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 chordates.

    Orthologs for F12 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F121 , 5 coagulation factor XII (Hageman factor)1, 5 78.37(n)1
    72.63(a)1
      13 (30.06 cM)5
    589921  NM_021489.21  NP_067464.21 
     554179585 
    lizard
    (Anolis carolinensis)
    Reptilia F126
    coagulation factor XII (Hageman factor)
    44(a)
    1 ↔ 1
    2(145877168-145902279)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia f121 coagulation factor XII (Hageman factor) 52.47(n)
    47.06(a)
      100493769  XM_002936954.2  XP_002937000.1 


    ENSEMBL Gene Tree for F12 (if available)
    TreeFam Gene Tree for F12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for F12 gene
    PLG2  PLAT2  HGFAC2  HABP22  LPA2  PLAU2  MST12  HGF2  
    Selected SIMAP similar genes for F12 using alignment to 2 protein entries:     FA12_HUMAN (see all proteins) (see all similar genes):
    PRSS44    PRSS56    CORIN    F11    TMPRSS13    ELA2A
    TMPRSS5    TMPRSS11A    TPSB2    DKFZp586F0824    OVCH1    PRSS12
    PRSS36    TMPRSS3    DKFZp779M0222    KLKB1    serase-1B    PRSS1

    F12 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), 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 F12 (see all 293)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0315084
    Factor XII deficiency (FA12D)4--see VAR_0315082 W C mis40--------
    VAR_0066244
    Factor XII deficiency (FA12D)4--see VAR_0066242 C S mis40--------
    VAR_0315094
    Factor XII deficiency (FA12D)4--see VAR_0315092 G R mis40--------
    VAR_0315054
    Factor XII deficiency (FA12D)4--see VAR_0315052 R Q mis40--------
    VAR_0315034
    Factor XII deficiency (FA12D)4--see VAR_0315032 A T mis40--------
    VAR_0315074
    Factor XII deficiency (FA12D)4--see VAR_0315072 D N mis40--------
    VAR_0315024
    Hereditary angioedema 3 (HAE3)4--see VAR_0315022 T R mis40--------
    VAR_0144264
    Factor XII deficiency (FA12D)4--see VAR_0144262 Y C mis40--------
    VAR_0315004
    Factor XII deficiency (FA12D)4--see VAR_0315002 R P mis40--------
    VAR_0315044
    Factor XII deficiency (FA12D)4--see VAR_0315042 L M mis40--------

    HapMap Linkage Disequilibrium report for F12 (176829139 - 176836577 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for F12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509103CNV Insertion20534489
    dgv6382n71CNV Loss21882294
    nsv471057CNV Loss18288195
    nsv883167CNV Loss21882294
    nsv883164CNV Loss21882294
    nsv883163CNV Loss21882294
    dgv6379n71CNV Loss21882294
    dgv6381n71CNV Loss21882294
    dgv733n27CNV Loss19166990

    Human Gene Mutation Database (HGMD): F12
    Locus Specific Mutation Databases (LSDB): F12

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing F12
    DNA2.0 Custom Variant and Variant Library Synthesis for F12

    (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.)
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    OMIM gene information: 610619   
    OMIM disorders: 234000  610618  
    UniProtKB/Swiss-Prot: FA12_HUMAN, P00748
  • Factor XII deficiency (FA12D) [MIM:234000]: An asymptomatic anomaly of in vitro blood coagulation. Its
    diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only
    accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories,
    a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group
    (positive F12 antigen detection). Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Hereditary angioedema 3 (HAE3) [MIM:610618]: An hereditary angioedema occurring only in women. Hereditary
    angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or
    submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia.
    Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase
    inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g.,
    during pregnancy or treatment with oral contraceptives). Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for F12 (see all 48):    
    About MalaCards
    hereditary angioedema type iii    factor xii deficiency    hereditary angioedema    patent foramen ovale
    acalculous cholecystitis    cerebrovascular disease    angioedema    cholecystitis
    c1 inhibitor deficiency    factor xi deficiency    sotos syndrome    venous thrombosis
    retinal vein occlusion    thromboembolism    protein c deficiency    thrombophilia
    hemorrhagic disease    nephrolithiasis    pregnancy loss    hemophilia

    7 diseases from the University of Copenhagen DISEASES database for F12:
    Factor XII deficiency     Urticaria     C1 inhibitor deficiency     Thrombophilia
    Factor XI deficiency     Heart disease     Hemorrhagic disease

    F12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for F12 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    factor xii deficiency 85.5 6 1550105 (1), 12876626 (1), 9856928 (1), 9473199 (1) (see all 6)
    angioedema, hereditary 78.9 4 16638441 (1), 17186468 (1), 19474702 (1)
    angioedema 51.4 4 19178938 (3)
    thrombophilia 50.4 2 15116249 (1), 10650856 (1)
    miscarriage recurrent 46.5 2 11821096 (1), 11438345 (1)
    thrombosis 38.5 4 17982641 (1), 10650856 (1), 11755949 (1), 19786295 (1)
    venous thrombosis 30.8 2 15116249 (1), 11755949 (1)
    arterial thrombosis 26.2 1 17388965 (1)
    thromboembolism 16.4 1 9856928 (1)
    cerebrovascular disease 8.58 1 10669178 (1)

    Genatlas disease: F12
    Hageman factor deficiency,without bleeding diathesis

    Genetic Association Database (GAD): F12
    Human Genome Epidemiology (HuGE) Navigator: F12 (53 documents)

    Export disorders for F12 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 F12 gene, integrated from 10 sources (see all 222):
    (articles sorted by number of sources associating them with F12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels. (PubMed id 19933701)1, 4, 9 Calafell F....Soria J.M. (Hum. Mol. Genet. 2010)
    2. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. (PubMed id 17186468)1, 2, 9 Cichon S....Noethen M.M. (Am. J. Hum. Genet. 2006)
    3. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. (PubMed id 16638441)1, 2, 9 Dewald G. and Bork K. (Biochem. Biophys. Res. Commun. 2006)
    4. Association after linkage analysis indicates that homozygosity for the 46C--&gt;T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. (PubMed id 15116249)1, 4, 9 Tirado I....Fontcuberta J. (Thromb. Haemost. 2004)
    5. A common C--&gt;T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity. (PubMed id 11248286)1, 4, 9 Endler G....Quehenberger P. (Thromb. Res. 2001)
    6. Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg-353-->Pro leading to loss of a kallikrein cleavage site. (PubMed id 8049433)1, 2, 9 Hovinga J.K....Laemmle B. (Blood 1994)
    7. The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study. (PubMed id 19415820)1, 4, 9 Maitland-van der Zee A.H....Eckfeldt J.H. (Pharmacogenet. Genomics 2009)
    8. Coagulation factor XII (FXII) activity, activated FXII, distribution of FXII C46T gene polymorphism and coronary risk. (PubMed id 18021303)1, 4, 9 Bach J....Hellstern P. (J. Thromb. Haemost. 2008)
    9. Coagulation factor XII activity, but not an associated common genetic polymorphism (46C/T),is linked to recurrent miscarriage. (PubMed id 11821096)1, 4, 9 Iinuma Y....Suzumori K. (Fertil. Steril. 2002)
    10. Accumulation of gene polymorphisms related to plaque disruption and thrombosis is associated with cerebral infarction in subjects with type 2 diabetes. (PubMed id 19933990)1, 4, 9 Katakami N....Yamasaki Y. (Diabetes Care 2010)

    (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: 2161 HGNC: 3530 AceView: F12 Ensembl:ENSG00000131187 euGenes: HUgn2161
    ECgene: F12 Kegg: 2161 H-InvDB: F12

    (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 F12 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Factor_XII
    F12basehttp://bioinf.uta.fi/F12base/
    SeattleSNPshttp://pga.gs.washington.edu/data/f12/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for F12 gene:
    Search GeneIP for patents involving F12

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



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