Display Settings:

Format

Send to:

Choose Destination

F12 coagulation factor XII (Hageman factor) [ Homo sapiens (human) ]

Gene ID: 2161, updated on 13-Jan-2015
Official Symbol
F12provided by HGNC
Official Full Name
coagulation factor XII (Hageman factor)provided by HGNC
Primary source
HGNC:HGNC:3530
See related
Ensembl:ENSG00000131187; HPRD:01992; MIM:610619; Vega:OTTHUMG00000163403
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HAF; HAE3; HAEX
Summary
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]
Orthologs
See F12 in MapViewer
Location:
5q35.3
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (177402138..177409576, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176829139..176836577, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 34 (type II sodium/phosphate cotransporter), member 1 Neighboring gene profilin 3 Neighboring gene G protein-coupled receptor kinase 6 Neighboring gene PRR7 antisense RNA 1 Neighboring gene proline rich 7 (synaptic)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Factor XII deficiency disease
MedGen: C0015526 OMIM: 234000 GeneReviews: Not available
Compare labs
Hereditary angioneurotic edema with normal C1 esterase inhibitor activity
MedGen: C1857728 OMIM: 610618 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
NHGRI GWA Catalog
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children.
NHGRI GWA Catalog
  • Blood Clotting Cascade, organism-specific biosystem (from WikiPathways)
    Blood Clotting Cascade, organism-specific biosystemCoagulation is a complex process by which blood forms clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel), wherein a damaged blood vessel wall is covered ...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Intrinsic Pathway, organism-specific biosystem (from REACTOME)
    Intrinsic Pathway, organism-specific biosystemThe intrinsic pathway of blood clotting connects interactions among kininogen (high molecular weight kininogen, HK), prekallikrein (PK), and factor XII to the activation of clotting factor X by a ser...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
misfolded protein binding IC
Inferred by Curator
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type aminopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Factor XII activation IDA
Inferred from Direct Assay
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
blood coagulation, intrinsic pathway IC
Inferred by Curator
more info
PubMed 
blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
fibrinolysis IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
PubMed 
plasma kallikrein-kinin cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of blood coagulation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of plasminogen activation IDA
Inferred from Direct Assay
more info
PubMed 
protein autoprocessing IDA
Inferred from Direct Assay
more info
PubMed 
protein processing IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
response to misfolded protein IDA
Inferred from Direct Assay
more info
PubMed 
zymogen activation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
coagulation factor XII
Names
coagulation factor XII
Hageman factor
beta-factor XIIa part 1
beta-factor XIIa part 2
coagulation factor XIIa heavy chain
coagulation factor XIIa light chain
NP_000496.2

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.

Genomic

  1. NG_007568.1 

    Range
    5001..12439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_145

mRNA and Protein(s)

  1. NM_000505.3NP_000496.2  coagulation factor XII precursor

    See proteins identical to NP_000496.2

    Status: REVIEWED

    Source sequence(s)
    AB095845, AC145098, BE139501, M11723
    Consensus CDS
    CCDS34302.1
    UniProtKB/Swiss-Prot
    P00748
    UniProtKB/TrEMBL
    Q8IZZ5
    Related
    ENSP00000253496, OTTHUMP00000223845, ENST00000253496, OTTHUMT00000373217
    Conserved Domains (6) summary
    smart00020
    Location:372609
    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 ...
    cd00108
    Location:215295
    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 ...
    cd00190
    Location:373612
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    177402138..177409576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    176262187..176269625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    171749566..171757004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)