Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol F12 contributors: mct/npt - updated : 15/09/2008
HGNC name coagulation factor XII (Hageman factor)
HGNC id 3530
DNA
TYPE functioning gene
STRUCTURE 7.44 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   hormone   HRE
text structure estrogen-responsive elements in the promoter region
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2060 - 615 - -
  • a 19 aa signal peptide of 2.1 kda
  • alpha-factor XIIa heavy chain (a 353 aa petide of 39.6 kda, from 20 to 372 aa)
  • beta-factor XIIa light chain (a 9 aa petide of 0.9 kda, from 354 to 362 aa)
  • alpha-factor XIIa light chain (a 243 aa petide of 26.1 kda, from 373 to 615 aa)
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     liver    
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion serum
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a fibronectin type II domain
  • a fibronectin type I domain
  • two EGF-like domains
  • a cysteine-rich kringle domain,
  • a proline-rich domain
  • a serine protease (peptidase S1) domains
  • conjugated GlycoP
    isoforms Precursor zymogen
    HOMOLOGY
    interspecies homolog to rattus F12 (73.5 pc)
    homolog to murine F12 (72.2 pc)
    Homologene
    FAMILY
  • peptidase S1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • serine protease, participating in the initiation of blood
  • coagulation, fibrinolysis, and the generation of bradykinin and angiotensin
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cleaving prekellikrein
  • activating FVII, FXI
  • cell & other
    REGULATION
    activated by cleavage producing a heavy and a light (catalytic) chains
    Other positively regulated by estrogens
    ASSOCIATED DISORDERS
    corresponding disease(s) F12 , HAE3
    Susceptibility to shortening of the activated partial thromboplastin time (aPTT)
    Variant & Polymorphism SNP s2731672 increasing the risk of aPTT (Houlihan 2010)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS