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

F7 Gene

protein-coding   GIFtS: 68
GCID: GC13P113760

Coagulation Factor VII (Serum Prothrombin Conversion Accelerator)

Microbiology & Infectious Diseases Congress
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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
Coagulation Factor VII (Serum Prothrombin Conversion Accelerator)1 2     Coagulation Factor VII2
Eptacog Alfa1 2 3     proconvertin2
FVII Coagulation Protein1 2     Proconvertin3
SPCA2 3     Serum Prothrombin Conversion Accelerator3
EC 3.4.21.213 8     EC 3.4.218
Factor VII1     

External Ids:    HGNC: 35441   Entrez Gene: 21552   Ensembl: ENSG000000575937   OMIM: 6138785   UniProtKB: P087093   

Export aliases for F7 gene to outside databases

Previous GC identifers: GC13P112370 GC13P108397 GC13P112846 GC13P111708 GC13P112808 GC13P094198


(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 F7 Gene:
This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This
factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor
Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a
catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together
by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates
the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene
can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed
for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for F7 Gene: 
F7 (coagulation factor VII (serum prothrombin conversion accelerator)) is a protein-coding gene. Diseases associated with F7 include factor vii deficiency, and factor v deficiency, and among its related super-pathways are Blood Coagulation Signaling Pathways and Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PAMR1.

UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
Function: Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a
zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor
proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa
by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor
and calcium

Gene Wiki entry for F7 (Factor VII) 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_000013.10  NC_018924.2  NT_027140.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the F7 gene promoter:
         COUP-TF1   COUP-TF   AP-1   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF7 promoter sequence
   Search SABiosciences Chromatin IP Primers for F7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F7


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

F7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F7 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P113760:  view genomic region     (about GC identifiers)

Start:
113,760,105 bp from pter      End:
113,774,995 bp from pter
Size:
14,891 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: FA7_HUMAN, P08709 (See protein sequence)
Recommended Name: Coagulation factor VII precursor  
Size: 466 amino acids; 51594 Da
Subunit: Heterodimer of a light chain and a heavy chain linked by a disulfide bond
Subcellular location: Secreted
6/49 PDB 3D structures from and Proteopedia for F7 (see all 49):
1BF9 (3D)        1CVW (3D)        1DAN (3D)        1DVA (3D)        1F7E (3D)        1F7M (3D)    
Secondary accessions: B0YJC8 Q14339 Q5JVF1 Q5JVF2 Q9UD52 Q9UD53 Q9UD54
Alternative splicing: 2 isoforms:  P08709-1   P08709-2   

Explore the universe of human proteins at neXtProt for F7: NX_P08709

Explore proteomics data for F7 at MOPED 

Post-translational modifications:

  • UniProtKB: The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind
    calcium
  • UniProtKB: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains
  • UniProtKB: O- and N-glycosylated. N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing
    complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before
    folding. O-fucosylated by POFUT1 on a conserved serine or threonine residue found in the consensus sequence
    C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines
  • View neXtProt modification sites for NX_P08709

  • 4/19 DME Specific Peptides for F7 (P08709) (see all 19)
     FEGRNCE  CGGTLIN  NGGSCKD  TGIVSWG 

    F7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    F7 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000122.1  NP_001254483.1  NP_062562.1  

    ENSEMBL proteins: 
     ENSP00000329546   ENSP00000364731   ENSP00000387669   ENSP00000442051  
    Reactome Protein details: P08709
    Human Recombinant Protein Products for F7: 
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    Enzo Life Sciences proteins for F7
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    Novus Biologicals F7 Proteins
    Novus Biologicals F7 Lysates
    Sino Biological Recombinant Protein for F7
    Sino Biological Cell Lysate for F7 
    ProSpec Recombinant Protein for F7
    Cloud-Clone Corp. Proteins for F7 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    F7 for ontologies           About GeneDecksing



    F7 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/12 InterPro protein domains (see all 12):
     IPR017857 Coagulation_fac_subgr_Gla_dom
     IPR001314 Peptidase_S1A
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P08709

    ProtoNet protein and cluster: P08709

    5/7 Blocks protein domains (see all 7):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB001438 Type II EGF-like signature


    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 1 peptidase S1 domain


    F7 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: FA7_HUMAN, P08709
    Function: Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a
    zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor
    proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa
    by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor
    and calcium
    Catalytic activity: Selective cleavage of Arg- -Ile bond in factor X to form factor Xa

         Genatlas biochemistry entry for F7:
    coagulation factor VII,vitamin K-dependent (serum protein conversion accelerator),the active form being generated
    by the cleavage of Arg152-Ile153 peptide bond and complexing to cofactor F3 of tissue factor

         Enzyme Numbers (IUBMB): EC 3.4.21.211 2 EC 3.4.212

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI3455766
    GO:0003824catalytic activity ----
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005102receptor binding IEA--
         
    F7 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for F7:
     Decreased Salmonella enterica   Decreased viability of wild-ty  Increased gamma-H2AX phosphory  Metaphase cells 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for F7):
     cardiovascular system  homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 

    F7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out F7tm1Pec for F7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for F7 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for F7 
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    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): F7 (NM_000131)
    Sino Biological Human cDNA Clone for F7
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F7


    (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 F7 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Blood Clotting Cascade0.42
    Blood Coagulation Signaling Pathways0.51
    2Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.89
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.82
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.89
    Warfarin Pathway, Pharmacodynamics0.67
    Gamma-carboxylation of protein precursors0.89
    Extrinsic Pathway0.30
    3Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    4Circadian Clock
    Circadian Clock0.40
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression0.40
    5Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F7
        Blood Coagulation Signaling Pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F7
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade

    3 BioSystems Pathways for F7
        Blood Clotting Cascade
    Selenium Pathway
    Complement and Coagulation Cascades


    5/12        Reactome Pathways for F7 (see all 12)
        Hemostasis
    Circadian Clock
    Extrinsic Pathway
    Removal of aminoterminal propeptides from gamma-carboxylated proteins
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

    1 PharmGKB Pathway for F7
        Warfarin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for F7):
        Complement and coagulation cascades


    F7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for F7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/21 Interacting proteins for F7 (P087092, 3 ENSP000003647314) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3MINT-48178 I2D: score=2 
    F3P137263, ENSP000003341454I2D: score=5 STRING: ENSP00000334145
    HPNP059813, ENSP000002626264I2D: score=2 STRING: ENSP00000262626
    USP49Q70CQ13, ENSP000002972294I2D: score=2 STRING: ENSP00000297229
    GGCXP384353, ENSP000002338384I2D: score=1 STRING: ENSP00000233838
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002690positive regulation of leukocyte chemotaxis IDA17991872
    GO:0006508proteolysis TAS--
    GO:0007596blood coagulation TAS--
    GO:0007598blood coagulation, extrinsic pathway TAS--
    GO:0007623circadian rhythm IEA--

    F7 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

    F7 for compounds           About GeneDecksing

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

    Browse Tocris compounds for F7 (FA7)

    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Pharmaceutical: Available under the names Niastase or Novoseven (Novo Nordisk). Used for the treatment of bleeding
    episodes in hemophilia A or B patients with antibodies to coagulation factors VIII or IX

    2 HMDB Compounds for F7    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--

    12 DrugBank Compounds for F7 (see first 10)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coagulation Factor IXChristmas factor (see all 4)9001-28-9targetligand10192655 10617609 659613 10938981 10498586 10381508
    Coagulation factor VIIaCoagulation factor VII precursor (see all 5)9001-25-6target--12525826 16370916 15907148 10388743 11735107
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetactivator17139284 17016423
    2-(4-HYDROXY-5-PHENYL-1H-PYRAZOL-3-YL)-1H-BENZOIMIDAZOLE-5-CARBOXAMIDINE-- --target--10592235
    5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID)-- --target--10592235
    [2'-HYDROXY-3'-(1H-PYRROLO[3,2-C]PYRIDIN-2-YL)-BIPHENYL-3-YLMETHYL]-UREA-- --target--10592235
    {5-(5-AMINO-1H-PYRROLO[3,2-B]PYRIDIN-2-YL)-6-HYDROXY-3'-NITRO-BIPHENYL-3-YL]-ACETIC ACID-- --target--10592235
    (2R)-({4-[AMINO(IMINO)METHYL]PHENYL}AMINO){5-ETHOXY-2-FLUORO-3-[(3R)-TETRAHYDROFURAN-3-YLOXY]PHENYL}ACETICACID-- --target----
    2-[2-ETHANESULFONYLAMINO-3-(1H-INDOL-3-YL)-PROPIONYLAMINO]-PENTANEDIOIC ACID 5-AMIDE 1-(4-CARBAMIM IDOYL-BENZYLAMIDE)-- --target----
    2-[2-ETHANESULFONYLAMINO-3-(5-PROPOXY-1H-INDOL-3-YL)-PROPIONYLAMINO]-PENTANEDIOIC ACID 5-AMIDE 1-(4-CARBAMIMIDOYL-BENZYLAMIDE)-- --target----
    3-({1-[3-CARBAMIMIDOYL-1-(4-CARBAMIMIDOYL-BENZYLCARBAMOYL)-PROPYLCARBAMOYL]-2-METHYL-BUTYLSULFAMOYL}-METHYL)-BENZOIC ACID-- --target----
    N-[1-(4-CARBAMIMIDOYL-BENZYLCARBAMOYL)-3-METHYLSULFANYL-PROPYL]-3-HYDROXY-2-PROPOXYAMINO-BUTYRAMID-- --target----

    10/15 Novoseek inferred chemical compound relationships for F7 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 70.8 46 8651250 (2), 9636964 (2), 19577483 (2), 2335101 (1) (see all 40)
    gamma-carboxyglutamic acid 55.1 3 1633870 (1), 18373251 (1), 9184404 (1)
    warfarin 38.9 1 2377284 (1)
    serine 36.6 8 1970743 (1), 11876468 (1), 18058827 (1), 8639446 (1) (see all 8)
    cholesterol 34.2 5 8386689 (1), 17059418 (1), 1793443 (1)
    kininogen 26.6 1 10225721 (1)
    levonorgestrel 20.1 1 11810082 (1)
    glucose 13.8 5 9591743 (1), 2055073 (1), 12917499 (1), 17675296 (1)
    lipid 4.79 5 9005605 (1), 8651250 (1), 14766762 (1), 1753430 (1)
    gentamicin 2.31 1 16879227 (1)

    Search CenterWatch for drugs/clinical trials and news about F7 / FA7

    (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 F7 gene (3 alternative transcripts): 
    NM_000131.4  NM_001267554.1  NM_019616.3  

    Unigene Cluster for F7:

    Coagulation factor VII (serum prothrombin conversion accelerator)
    Hs.36989  [show with all ESTs]
    Unigene Representative Sequence: NM_000131
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346342(uc010agp.1) ENST00000375581(uc001vsv.3 uc001vsw.3 uc010tjt.2)
    ENST00000444337 ENST00000479674 ENST00000473085 ENST00000541084
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AK298404.1 AK310779.1 AK311565.1 AK311682.1 AY423856.1 BC130468.1 EF421855.1 EU557239.1 
    M13232.1 NR_051961.1 

    2 DOTS entries:

    DT.107779  DT.92417225 

    21 AceView cDNA sequences:

    AI076550 AL531727 CB156039 AI076552 NM_019616 NM_000131 BX095482 M13232 
    AA256666 M78203 BV199077 AA256665 AA701917 AY423856 AL531726 AA677801 
    AU099140 AA133523 AI247880 AA002224 BE939170 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for F7    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:                                                        -                                 
    SP2:                    -                                   -                                 
    SP3:                    -     -           -                 -                                 
    SP4:                                                        -     -                           
    SP5:                                                                                          


    ECgene alternative splicing isoforms for F7

    (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

    F7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    F7 Expression
    About this image


    See F7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for F7

    SOURCE GeneReport for Unigene cluster: Hs.36989

    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Tissue specificity: Plasma

        SABiosciences Custom PCR Arrays for F7
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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 F7 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F71 , 5 coagulation factor VII1, 5 76.96(n)1
    71.62(a)1
      8 (5.73 cM)5
    140681  NM_010172.31  NP_034302.21 
     130260345 
    chicken
    (Gallus gallus)
    Aves F71 coagulation factor VII (serum prothrombin conversion more 59.68(n)
    57.11(a)
      395086  NM_204442.1  NP_989773.1 
    lizard
    (Anolis carolinensis)
    Reptilia F76
    coagulation factor VII (serum prothrombin conversi...
    55(a)
    1 ↔ 1
    3(105930562-105943454)
    zebrafish
    (Danio rerio)
    Actinopterygii AY040345.12   -- 72.42(n)   114423  AY040345.1 


    ENSEMBL Gene Tree for F7 (if available)
    TreeFam Gene Tree for F7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for F7 gene
    PAMR12  PROZ2  C1S2  C1R2  C1RL2  F92  F102  MASP12  
    F22  HPR2  PROC2  HP2  MASP22  
    18/55 SIMAP similar genes for F7 using alignment to 6 protein entries:     FA7_HUMAN (see all proteins) (see all similar genes):
    F2    FBLN1    F9    PROC1    DKFZp586F0824    F12
    FBN2    GAS6    MATN2    SNED1    HP    EGFL7
    F9 p22    factor IX F9    F10    PROC    TRY8    PRSS1

    F7 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

    10/750 SNPs in F7 are shown (see all 750)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0654104
    Factor VII deficiency (FA7D)4--see VAR_0654102 T M mis40--------
    VAR_0065164
    Factor VII deficiency (FA7D)4--see VAR_0065162 G R mis40--------
    VAR_0653734
    Factor VII deficiency (FA7D)4--see VAR_0653732 E K mis40--------
    VAR_0654174
    Factor VII deficiency (FA7D)4--see VAR_0654172 S N mis40--------
    VAR_0144124
    Factor VII deficiency (FA7D)4--see VAR_0144122 C R mis40--------
    VAR_0065074
    Factor VII deficiency (FA7D)4--see VAR_0065072 R W mis40--------
    VAR_0653834
    Factor VII deficiency (FA7D)4--see VAR_0653832 S F mis40--------
    VAR_0064974
    Factor VII deficiency (FA7D)4--see VAR_0064972 R K mis40--------
    VAR_0654254
    Factor VII deficiency (FA7D)4--see VAR_0654252 A T mis40--------
    VAR_0065174
    Factor VII deficiency (FA7D)4--see VAR_0065172 G E mis40--------

    HapMap Linkage Disequilibrium report for F7 (113760105 - 113774995 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/29 variations for F7 (see all 29):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2748250CNV Deletion23290073
    esv2748259CNV Deletion23290073
    esv2748244CNV Deletion23290073
    esv5028CNV Deletion18987735
    esv2748245CNV Deletion23290073
    esv2748248CNV Deletion23290073
    esv2748247CNV Deletion23290073
    esv2748260CNV Deletion23290073
    esv2748249CNV Deletion23290073
    esv2748258CNV Deletion23290073


    Human Gene Mutation Database (HGMD): F7
    SABiosciences Cancer Mutation PCR Assays
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    (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: 613878    OMIM disorders: --

    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
  • Factor VII deficiency (FA7D) [MIM:227500]: A hemorrhagic disease with variable presentation. The clinical
    picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or,
    in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a
    surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/79 diseases for F7 (see all 79):    About MalaCards
    factor vii deficiency    factor v deficiency    ischemic heart disease    vitamin k deficiency hemorrhagic disease
    dubin-johnson syndrome    coronary heart disease    factor viii deficiency    factor x deficiency
    hemophilia    factor xi deficiency    chronic myeloproliferative disease    carotid stenosis
    hemorrhagic disease    acute liver failure    von willebrand's disease    hemophilia b
    blood clots    thromboembolism    cerebral palsy    protein c deficiency

    15 diseases from the University of Copenhagen DISEASES database for F7:
    Factor VII deficiency     Heart disease     Disseminated intravascular coagulation     Factor XI deficiency
    Hemophilia B     Glanzmann's thrombasthenia     Von Willebrand's disease     Cerebrovascular accident
    Vitamin K deficiency hemorrhagic disease     Factor X deficiency     Atherosclerosis     Liver disease
    Thrombocytopenia     Factor VIII deficiency     Diabetes mellitus

    F7 for disorders           About GeneDecksing

    10/31 Novoseek inferred disease relationships for F7 gene (see all 31)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    factor vii deficiency 91 16 1666726 (3), 8844208 (2), 16792912 (1), 12695753 (1) (see all 13)
    coronary heart disease 52.6 8 11372669 (2), 17581323 (1), 9301633 (1), 15081566 (1) (see all 7)
    coagulopathy 52 2 11202627 (1), 15734783 (1)
    thrombosis 45.2 10 18282149 (2), 8086403 (1), 9301633 (1), 11143761 (1) (see all 9)
    myocardial infarction 42.1 11 12935410 (1), 11578716 (1), 11776135 (1), 17059418 (1) (see all 11)
    cardiovascular diseases 41.6 7 9187410 (1), 9308739 (1), 10828024 (1), 17059418 (1) (see all 7)
    hemophilia a 37.3 2 10087434 (2)
    thrombophilia 35.8 3 15771687 (1), 16292673 (1)
    von willebrand disease 27.8 1 9885217 (1)
    intracranial hemorrhages 24.7 1 10087434 (1)

    Genatlas disease: F7
    hypoproconvertinemia

    Genetic Association Database (GAD): F7
    Human Genome Epidemiology (HuGE) Navigator: F7 (156 documents)

    Export disorders for F7 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 F7 gene, integrated from 9 sources (see all 578):
    (articles sorted by number of sources associating them with F7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. (PubMed id 18976247)1, 2, 4 Herrmann F.H....Salazar-Sanchez L. (2008)
    2. Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2- Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z. (PubMed id 2511201)1, 2, 3 Nishimura H.... Iwanaga S. (1989)
    3. Amino acid sequence and posttranslational modifications of human factor VIIa from plasma and transfected baby hamster kidney cells. (PubMed id 3264725)1, 2, 3 Thim L.... Hedner U. (1988)
    4. Human F7 sequence is split into three deep clades that are related to FVII plasma levels. (PubMed id 16292673)1, 2, 9 Sabater-Lleal M.... Calafell F. (2006)
    5. Coagulation factor VII gene haplotypes, obesity-related traits, and cardiovascular risk in young women. (PubMed id 17059418)1, 4, 9 Reiner A.P....Nickerson D.A. (2007)
    6. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. (PubMed id 11129332)1, 2, 9 Millar D.S.... Cooper D.N. (2000)
    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. (2009)
    8. [The connection between Arg353Gln polymorphism of coagulation factor VII and recurrent miscarriages] (PubMed id 19323053)1, 4, 9 Seremak-Mrozikiewicz A....Mrozikiewicz P.M. (2009)
    9. Tissue factor and coagulation factor VII levels during acute myocardial infarction: association with genotype and adverse events. (PubMed id 17008590)1, 4, 9 Campo G....Bernardi F. (2006)
    10. Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at high risk for coronary heart disease. (PubMed id 15081566)1, 4, 9 Lindman A.S....Seljeflot I. (2004)

    (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: 2155 HGNC: 3544 AceView: F7 Ensembl:ENSG00000057593 euGenes: HUgn2155
    ECgene: F7 Kegg: 2155 H-InvDB: F7

    (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 F7 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Factor_VII
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F7
    SeattleSNPshttp://pga.gs.washington.edu/data/f7/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for F7 gene:
    Search GeneIP for patents involving F7

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



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