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    F12 coagulation factor XII (Hageman factor) [ Mus musculus (house mouse) ]

    Gene ID: 58992, updated on 23-Dec-2024

    Summary

    Official Symbol
    F12provided by MGI
    Official Full Name
    coagulation factor XII (Hageman factor)provided by MGI
    Primary source
    MGI:MGI:1891012
    See related
    Ensembl:ENSMUSG00000021492 AllianceGenome:MGI:1891012
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HAF; FXII
    Summary
    This gene encodes a glycoprotein coagulation factor that plays an important role in the intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that is autoactivated upon contact with negatively charged surfaces or misfolded protein aggregates. Mice lacking the encoded protein have a severe defect in forming stable fibrin clots. [provided by RefSeq, Apr 2015]
    Expression
    Biased expression in liver adult (RPKM 284.9), liver E18 (RPKM 133.3) and 2 other tissues See more
    Orthologs
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    Genomic context

    See F12 in Genome Data Viewer
    Location:
    13 B1; 13 30.06 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (55565771..55574617, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (55417958..55426804, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:55471008-55471191 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:55475647-55475848 Neighboring gene regulator of G-protein signaling 14 Neighboring gene STARR-positive B cell enhancer ABC_E4071 Neighboring gene solute carrier family 34 (sodium phosphate), member 1 Neighboring gene profilin 3 Neighboring gene STARR-seq mESC enhancer starr_34617 Neighboring gene STARR-positive B cell enhancer ABC_E8892 Neighboring gene STARR-positive B cell enhancer ABC_E212 Neighboring gene STARR-positive B cell enhancer ABC_E4072 Neighboring gene G protein-coupled receptor kinase 6 Neighboring gene microRNA 6943 Neighboring gene proline rich 7 (synaptic)

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Factor XII activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Factor XII activation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibrinolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma kallikrein-kinin cascade ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of blood coagulation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of fibrinolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fibrinolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of plasminogen activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of plasminogen activation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein autoprocessing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein autoprocessing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein processing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to misfolded protein IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to misfolded protein ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in zymogen activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in zymogen activation ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in rough endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    coagulation factor XII
    Names
    factor XII
    hageman factor
    NP_067464.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021489.3NP_067464.2  coagulation factor XII preproprotein

      See identical proteins and their annotated locations for NP_067464.2

      Status: REVIEWED

      Source sequence(s)
      CT009762
      Consensus CDS
      CCDS36675.1
      UniProtKB/Swiss-Prot
      O35727, Q6PER0, Q80YC5
      Related
      ENSMUSP00000021948.9, ENSMUST00000021948.15
      Conserved Domains (7) summary
      smart00020
      Location:354591
      Tryp_SPc; Trypsin-like serine protease
      cd00054
      Location:96131
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00061
      Location:133173
      FN1; Fibronectin type 1 domain, approximately 40 residue long with two conserved disulfide bridges. FN1 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces ...
      cd00062
      Location:4188
      FN2; Fibronectin Type II domain: FN2 is one of three types of internal repeats which combine to form larger domains within fibronectin. Fibronectin, a plasma protein that binds cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and ...
      cd00190
      Location:355594
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam00008
      Location:178206
      EGF; EGF-like domain
      cl00100
      Location:217295
      KR; Kringle domain; Kringle domains are believed to play a role in binding mediators, such as peptides, other proteins, membranes, or phospholipids. They are autonomous structural domains, found in a varying number of copies, in blood clotting and ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      55565771..55574617 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)