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F7 Gene

protein-coding   GIFtS: 68

GC13P112808
coagulation factor VII (serum prothrombin conversion accelerator)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    

Aliases &
Descriptions
for F7

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
EC 3.4.21.21 3
OTTHUMP00000018733 2
OTTHUMP00000018734 2
Proconvertin 3
SPCA 3
Descriptions
Eptacog alfa 2, 3
FVII coagulation protein 2
Serum prothrombin conversion accelerator 3
coagulation factor VII 2
coagulation factor VII (serum prothrombin conversion
accelerator) 2
External Ids
HGNC: 35441
Entrez Gene: 21552
UniProtKB: P087093
Ensembl: ENSG000000575937
Search outside databases for aliases for F7 gene

Previous GC identifers: GC13P112370 GC13P108397 GC13P112846 GC13P111708

Summaries
for F7

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

 EntrezGene summary for F7:
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.
Alternative splicing of this gene results in 2 transcripts. Defects in this gene can cause
coagulopathy. [provided by RefSeq]

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)

Genomic Location
for F7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the F7 gene  

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)

GeneLoc gene densities for chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P112808:     (about GC identifiers)

Start:
 112,808,106 bp from pter
End:
 112,822,996 bp from pter
Size:
 14,891 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000013.9  NT_027140.6  

Proteins
for F7

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
PDB structures from and Proteopedia :
1BF9 (3D)    1CVW (3D)    1DAN (3D)    1DVA (3D)    1F7E (3D)    1F7M (3D)    1FAK (3D)    1FF7 (3D)    
1FFM (3D)    1J9C (3D)    1JBU (3D)    1KLI (3D)    1KLJ (3D)    1NL8 (3D)    1O5D (3D)    1QFK (3D)    
1W0Y (3D)    1W2K (3D)    1W7X (3D)    1W8B (3D)    1WQV (3D)    1WSS (3D)    1WTG (3D)    1WUN (3D)    
1WV7 (3D)    1YGC (3D)    1Z6J (3D)    2A2Q (3D)    2AEI (3D)    2AER (3D)    2B7D (3D)    2B8O (3D)    
2BZ6 (3D)    2C4F (3D)    2EC9 (3D)    2F9B (3D)    2FIR (3D)    2FLB (3D)    2FLR (3D)    2PUQ (3D)    
2ZP0 (3D)    2ZWL (3D)    2ZZU (3D)    3ELA (3D)    
Secondary accessions: Q14339 Q5JVF2
Alternative splicing: 2 isoforms:  P08709-1   P08709-2   

Post-translational modifications:

  • The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified
    protein to bind calcium1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R)
    stereospecific within EGF domains1


    • REFSEQ proteins (2 alternative transcripts): 
    NP_000122.1  NP_062562.1  


    ENSEMBL proteins: 
    ENSP00000364731 ENSP00000329546 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    R&D Systems Recombinant & Natural Proteins for F7 (Coagulation Factor VII)
    Enzo Life Sciences proteins for F7
    Recombinant Proteins from Abcam (Factor VIIa, Factor VII, Factor VII + VIIa)
    Human Recombinant Proteins from Abnova (F7)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region TAS3037537
    GO:0005886 plasma membrane EXP2271516 3527261 8598903
    About this table

    Antibodies for F7: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for F7
    R&D Systems Antibodies for F7 (Coagulation Factor VII)
    Antibodies from Abcam (Factor VIIa, Factor VII, Factor VII + VIIa), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (F7)
    Novus Biologicals Antibodies for F7

    Assays for F7: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for F7

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/14 InterPro domains/families (see all 14 ):
     IPR001438 EGF_2
     IPR001314 Peptidase_S1A
     IPR000742 EGF_3
     IPR006209 EGF
     IPR000152 EGF-type_Asp/Asn_hydroxyl_CS


       GeneDecks  F7 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P08709

    ProtoNet protein and cluster: P08709

    5/7 Blocks protein families (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

    Gene Function
    for F7

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (F7)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (F7)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000131

                  Applied Biosystems Silencer® siRNAs for F7

                  Sigma-Aldrich siRNA and siRNA Panels for F7  
                         Sigma-Aldrich shRNA Panels and shRNA for F7  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000131
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000131
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000131 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000131

    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
    Catalytic activity: Selective cleavage of Arg- -Ile bond in factor X to form factor Xa
    Enzyme Number (IUBMB): EC 3.4.21.21 

    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

    5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for F7):

    homeostasis/metabolismlethality-prenatal/perinatallife span-post-weaning/agingnormal

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252 serine-type endopeptidase activity TAS3037537
    GO:0005509 calcium ion binding IEA--
    GO:0005515 protein binding IPI18267072
    GO:0008233 peptidase activity IEA--
    About this table

    Pathways & Interactions
    for F7

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  F7  (Your Favorite Gene powered by Ingenuity) 
     Inositol Metabolism
     Coagulation System

       GeneDecks  F7 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for F7):
     hsa04610 Complement and coagulation cascades

       GeneDecks  F7 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  F7 


    5/30 Interacting proteins for F7 (ENSP000003647313 P087091, 2) via UniProtKB, MINT, and/or STRING (see all 30 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PII PII (xeno)P041331EBI-355972, EBI-1646019
    IKBKGQ9Y6K92MINT-48178
    F3ENSP000003341453STRING (score=.999)
    TFPIENSP000002331563STRING (score=.993)
    GGCXENSP000002338383STRING (score=.991)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IEA--
    GO:0007598 blood coagulation, extrinsic pathway EXP7598447
    About this table

    Drugs & Compounds
    for F7

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for F7
    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

    8 Novoseek chemical compound relationships for F7 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 70.51 41 8651250 (2), 9636964 (2), 2335101 (1), 1342301 (1) (see all 37)
    gamma-carboxyglutamic acid 56.34 3 1633870 (1), 18373251 (1), 9184404 (1)
    cholesterol 35.43 5 8386689 (1), 17059418 (1), 1793443 (1)
    glucose 16.91 5 9591743 (1), 2055073 (1), 12917499 (1), 17675296 (1)
    lipid 5.28 5 9005605 (1), 8651250 (1), 14766762 (1), 1753430 (1)
    nitric oxide 5.15 1 15358161 (1)
    calcium 0.00 2 11159523 (1), 2055073 (1)
    vitamin-e 0.00 2 11724506 (1), 10225721 (1)
    About this table


    Transcripts
    for F7

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (F7)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (F7)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000131

                  Sigma-Aldrich siRNA and siRNA Panels for F7  
                         Sigma-Aldrich shRNA Panels and shRNA for F7  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000131  NM_019616  

    REFSEQ mRNAs for F7 gene (2 alternative transcripts): 

    NM_000131.3   NM_019616.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000131  NM_019616  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000131
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000131
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000131 

    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.107779  DT.92417225 

    21 AceView cDNA sequences:

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

    highest scoring ESTs for F7:

    M13232 AA002224 AA256666 AA677801 AA701917 AI076550 AI076552 AI247880 AY423856 BX095482 

    Unigene Cluster for F7:

    Coagulation factor VII (serum prothrombin conversion accelerator)
    Hs.36989  [show with all ESTs]
    Unigene Representative Sequence: NM_000131


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for F7

    2 Ensembl transcripts including schematic representations:
    ENST00000375581  ENST00000346342  

    Expression
    for F7

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    F7 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for F7

    1 / 2 / 3

    6 probe-sets matching F7 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    46361_at2, 3 U95-B 1 1.00 1.00 0.97 0.65 H70477 0.60 1.00 0.82 1
    33520_at2, 3 U95-A 1 0.94 1.00 0.96 1.39 M13232 1.00 1.00 1.00 1

    		207300_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000131 0.60 1.00 0.82 1

    		237414_at2, 3 U133-B 1 0.91 1.00 -- -- H70477 0.60 1.00 0.82 1

    		207300_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		237414_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  F7 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.36989

    Expression variation in blood from EXPOLDB for F7

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

    Orthologs
    for F7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for F7 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 F71   -- coagulation factor VII (serum prothrombin conversion more 81.02(n)
    76.08(a)    		 607661  XM_844420.1  XP_849513.1 
    chimpanzee
    (Pan troglodytes)    		 F71   -- coagulation factor VII (serum prothrombin conversion more 92.11(n)
    89.66(a)    		 744785  XM_001149885.1  XP_001149885.1 
    cow
    (Bos taurus)    		 LOC7855171   -- similar to coagulation factor VII precursor 78.14(n)
    71.36(a)    		 785517  XM_001250511.1  XP_001250512.1 
    rat
    (Rattus norvegicus)    		 F71   -- coagulation factor VII (serum prothrombin conversion more 76.7(n)
    69.89(a)    		 260320  NM_152846.1  NP_690059.1 
    mouse
    (Mus musculus)    		 F71, 5 8 (7.00 cM)5
    		 coagulation factor VII1, 5 76.89(n)1
    71.4(a)1    		 140681  NM_010172.21  NP_034302.11 
     AI1326205  AI2559065  (see all 14)
    About this table        Species with no ortholog for F7

    ENSEMBL Gene Tree for F7

    Paralogs
    for F7

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for F7 gene
    F92  F102  

    SNPs/Variants
    for F7

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Polymorphism: Individuals with the Q allele (Gln-413) seems to have a decreased susceptibility to
    myocardial infarction


    10/212 NCBI SNPs in F7 are shown (see all 212 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 105)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs30932331,2
    		A,C,F,H112806131(+) CTGCTA/GCTCCG 2 -- ng517Minor allele frequency- G:0.12NS EA 384
    rs5612411,2
    		C,F,H,O112808035(-) TCTGAA/GCACCC 2 -- ng5118Minor allele frequency- C:0.03EA NA NS EU WA 992
    rs30932551,2
    		C,F,H112822469(+) AAACAA/GAAGCT 2 -- ut31 ese317Minor allele frequency- G:0.05NS EU EA WA NA 1360
    --
    rs30932501,2
    		C,F,H112821962(+) CACACG/AGATGC 2 -- ut31 ese38Minor allele frequency- A:0.03NS EU EA WA 554
    rs30932561,2
    		C,F,H112822563(+) TTTCAC/GAGAGA 2 -- ut31 ese310Minor allele frequency- G:0.02NS EU EA WA NA 682
    --
    rs7626351,2
    		C,F,H112807487(+) tctccA/Cgcctg 2 -- ng517Minor allele frequency- C:0.05NS EU EA WA 548
    rs30932481,2
    		C,F,H112821255(+) ACATCG/AAGTGG 2 K/E mis1 ese37Minor allele frequency- A:0.00NS EU EA WA 562
    rs30932581,2
    		C,F,H112822798(+) CTGCAG/AGGCCG 2 -- ut31 ese37Minor allele frequency- A:0.00NS EU EA WA 558
    rs30932571,2
    		C,F,H112822598(+) CAGGGA/GCACAC 2 -- ut31 ese316Minor allele frequency- G:0.03NS EU EA NA 1256
    rs30932531,2
    		C,F,H112822093(+) ACACCG/AATGCT 2 -- ut31 ese311Minor allele frequency- A:0.07NS NA EU EA WA 722
    About this table

    HapMap Linkage Disequilibrium images for F7 (up to first 250kb)

    Disorders & Mutations
    for F7

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 227500

    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709

  • Defects in F7 are the cause of factor VII deficiency [MIM:227500]. Factor VII deficiency
    is a rare hereditary hemorrhagic disease. The clinical picture can be very severe, with the early
    occurrence of intracerebral hemorrhages or hemarthroses, or, in contrast, moderate with
    cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical
    intervention. Numerous subjects are completely asymptomatic despite a very low F7 level

    • 10/30 Novoseek disease relationships for F7 gene (see all 30 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    factor vii deficiency 91.35 16 1666726 (3), 8844208 (2), 16792912 (1), 12695753 (1) (see all 13)
    coronary heart disease 51.61 8 11372669 (2), 17581323 (1), 9301633 (1), 15081566 (1) (see all 7)
    coagulopathy 48.31 2 11202627 (1), 15734783 (1)
    myocardial infarction 42.36 11 12935410 (1), 11578716 (1), 11776135 (1), 17059418 (1) (see all 11)
    thrombosis 42.32 8 18282149 (2), 8086403 (1), 9301633 (1), 11143761 (1) (see all 7)
    cardiovascular diseases 42.31 7 9187410 (1), 9308739 (1), 10828024 (1), 17059418 (1) (see all 7)
    hemophilia a 39.65 2 10087434 (2)
    thrombophilia 38.17 3 15771687 (1), 16292673 (1)
    von willebrand disease 29.98 1 9885217 (1)
    intracranial hemorrhages 27.11 1 10087434 (1)
    About this table

    1 PharmGKB disease relationship for F7 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    ThromboembolismCO  GN  11457466
    About this table

    Genatlas disease: F7
    hypoproconvertinemia

    Human Gene Mutation Database: F7
    Genetic Association Database: F7
    Human Genome Epidemiology Navigator: F7 (113 documents)

    Medical News
    for F7

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for F7

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/412 PubMed articles for F7 gene (see all 412 ):

    Search for F7

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing F7

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 2155 HGNC: 3544 AceView: F7 Ensembl:ENSG00000057593 euGenes: HUgn2155
    ECgene: F7 H-InvDB: F7

    Other Databases showing F7

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing F7

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    Wikipedia http://en.wikipedia.org/wiki/Factor_VII
    Factor VII mutation databasehttp://193.60.222.13/index.htm
    GeneReviewshttp://www.genetests.org/query?gene=F7
    SeattleSNPshttp://pga.gs.washington.edu/data/f7/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F7

    Licensable Technologies
    for F7

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for F7

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for F7:
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     Recombinant Proteins
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     Proteins for F7
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for F7

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