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... See more...

Aliases for F12 Gene

Aliases for F12 Gene

  • Coagulation Factor XII 2 3 4 5
  • Hageman Factor 3 4
  • EC 3.4.21.38 4 51
  • HAF 3 4
  • Coagulation Factor XII (Hageman Factor) 2
  • Coagulation Factor XIIa Heavy Chain 3
  • Coagulation Factor XIIa Light Chain 3
  • Beta-Factor XIIa Part 1 3
  • Beta-Factor XIIa Part 2 3
  • EC 3.4.21 51
  • HAE3 3
  • HAEX 3
  • F12 5

External Ids for F12 Gene

Previous GeneCards Identifiers for F12 Gene

  • GC05M177202
  • GC05M177671
  • GC05M176764
  • GC05M176810
  • GC05M176761
  • GC05M171749
  • GC05M176829

Summaries for F12 Gene

Entrez Gene Summary for F12 Gene

  • 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]

GeneCards Summary for F12 Gene

F12 (Coagulation Factor XII) is a Protein Coding gene. Diseases associated with F12 include Factor Xii Deficiency and Angioedema, Hereditary, Type Iii. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Cell adhesion_Plasmin signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is HGFAC.

UniProtKB/Swiss-Prot Summary for F12 Gene

  • Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa.

Gene Wiki entry for F12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F12 Gene

Genomics for F12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J177415 Promoter/Enhancer 0.9 EPDnew ENCODE dbSUPER 600.4 -7.0 -6957 0.9 CEBPA CEBPB ZNF362 F12 NONHSAG042355.2 GRK6 PRR7
GH05J177409 Promoter 0.9 EPDnew 600.7 0.0 -8 0.1 GATAD2A REST SP1 CEBPA ZBTB26 FOXA2 YY1 ZNF205 KDM6A JUND F12 GRK6 NONHSAG042355.2 SLC34A1 PRR7
GH05J177443 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 -36.7 -36730 6.2 HNRNPL GATAD2A PRDM10 TFE3 ZNF512 RFX1 SOX13 NFKBIZ ZNF692 POLR2A PRR7 PRR7-AS1 NSD1 FAF2 UIMC1 ZNF346 ENSG00000247679 FAM193B F12 GRK6
GH05J177453 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12 -47.3 -47289 6.9 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 PRDM10 ZNF629 RFX1 PRR7 PRR7-AS1 PRR7-AS1-001 piR-31966 ZNF346 ZNF346-IT1 NSD1 ENSG00000246596 ENSG00000247679 FAM193B
GH05J177365 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.5 +42.7 42685 2.5 RNF2 HNRNPL PRDM10 ZNF629 LEF1 IKZF1 KDM1A JUND PHF21A ZIC2 RGS14 PFN3 GRK6 F12 MXD3 PRELID1 RAB24 lnc-SLC34A1-3 SLC34A1 lnc-LMAN2-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F12

Top Transcription factor binding sites by QIAGEN in the F12 gene promoter:
  • ATF
  • GATA-2
  • GR
  • GR-alpha
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for F12 Gene

Genomic Locations for F12 Gene
chr5:177,402,138-177,409,576
(GRCh38/hg38)
Size:
7,439 bases
Orientation:
Minus strand
chr5:176,829,139-176,836,577
(GRCh37/hg19)
Size:
7,439 bases
Orientation:
Minus strand

Genomic View for F12 Gene

Genes around F12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F12 Gene

Proteins for F12 Gene

  • Protein details for F12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00748-FA12_HUMAN
    Recommended name:
    Coagulation factor XII
    Protein Accession:
    P00748
    Secondary Accessions:
    • P78339

    Protein attributes for F12 Gene

    Size:
    615 amino acids
    Molecular mass:
    67792 Da
    Quaternary structure:
    • Interacts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation.

    Three dimensional structures from OCA and Proteopedia for F12 Gene

neXtProt entry for F12 Gene

Selected DME Specific Peptides for F12 Gene

P00748:
  • SFLQEAQVP
  • DACQGDSGG
  • VLTAAHC
  • TAAHCLQ
  • GDSGGPL
  • LTVTGEPC
  • CQGDSGGP
  • WVLTAAH
  • CGQRLRK
  • SGGPLVC

Post-translational modifications for F12 Gene

  • Factor XII is activated by kallikrein in alpha-factor XIIa, which is further converted by trypsin into beta-factor XIIa. Alpha-factor XIIa is composed of an NH2-terminal heavy chain, called coagulation factor XIIa heavy chain, and a COOH-terminal light chain, called coagulation factor XIIa light chain, connected by a disulfide bond. Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, an N-terminal nonapeptide, called beta-factor XIIa part 1, and coagulation factor XIIa light chain, also known in this context as beta-factor XIIa part 2.
  • O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc.
  • Glycosylation at Thr109, Asn249, Thr299, Thr305, Ser308, Thr328, Thr329, Thr337, and Asn433
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for F12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for F12 Gene

Gene Families for F12 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for F12 Gene

InterPro:
Blocks:
  • Kringle
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Type I EGF
  • Type II fibronectin collagen-binding domain
  • Fibronectin, type I
ProtoNet:

Suggested Antigen Peptide Sequences for F12 Gene

GenScript: Design optimal peptide antigens:
  • Hageman factor (FA12_HUMAN)
  • Coagulation factor XII (Q1JR85_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00748

UniProtKB/Swiss-Prot:

FA12_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with F12: view

Function for F12 Gene

Molecular function for F12 Gene

UniProtKB/Swiss-Prot Function:
Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg-|-Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa.; EC=3.4.21.38;.
GENATLAS Biochemistry:
coagulation factor XII,80kDa, (Hageman)

Enzyme Numbers (IUBMB) for F12 Gene

Phenotypes From GWAS Catalog for F12 Gene

Gene Ontology (GO) - Molecular Function for F12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 6793628
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 8710908
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with F12: view
genes like me logo Genes that share phenotypes with F12: view

Human Phenotype Ontology for F12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F12 Gene

MGI Knock Outs for F12:
  • F12 F12<tm1Pbfd>
  • F12 F12<tm1Fjc>

Animal Model Products

  • Taconic Biosciences Mouse Models for F12

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F12

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for F12 Gene

Localization for F12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F12 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F12 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for F12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA,IDA 6793628
GO:0005791 rough endoplasmic reticulum IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
genes like me logo Genes that share ontologies with F12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F12 Gene

Pathways & Interactions for F12 Gene

genes like me logo Genes that share pathways with F12: view

Pathways by source for F12 Gene

1 GeneGo (Thomson Reuters) pathway for F12 Gene
  • Cell adhesion_Plasmin signaling
1 R&D Systems pathway for F12 Gene
4 Qiagen pathways for F12 Gene
  • Blood Coagulation Cascade
  • Extrinsic Prothrombin Activation Pathway
  • Intrinsic Prothrombin Activation Pathway
  • MSP-RON Signaling

SIGNOR curated interactions for F12 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for F12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002353 plasma kallikrein-kinin cascade IDA 6793628
GO:0002542 Factor XII activation IDA 18725990
GO:0006508 proteolysis IBA 21873635
GO:0007596 blood coagulation IEA,IBA 21873635
GO:0007597 blood coagulation, intrinsic pathway IC,TAS --
genes like me logo Genes that share ontologies with F12: view

Drugs & Compounds for F12 Gene

(16) Drugs for F12 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
Conestat alfa Approved, Investigational Pharma Target, inhibitor 0
Ethanolamine oleate Approved Pharma Target, activator 5
Human C1-esterase inhibitor Approved Pharma Target, inhibitor 0
zinc acetate Approved, Investigational Pharma Target 0

(3) Additional Compounds for F12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with F12: view

Transcripts for F12 Gene

mRNA/cDNA for F12 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F12

Alternative Splicing Database (ASD) splice patterns (SP) for F12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for F12 Gene

GeneLoc Exon Structure for
F12

Expression for F12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F12 Gene

This gene is overexpressed in Liver (x44.8).

Protein differential expression in normal tissues from HIPED for F12 Gene

This gene is overexpressed in Serum (24.8), Synovial fluid (19.0), Plasma (11.0), and Monocytes (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for F12 Gene



Protein tissue co-expression partners for F12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F12

SOURCE GeneReport for Unigene cluster for F12 Gene:

Hs.1321

Evidence on tissue expression from TISSUES for F12 Gene

  • Liver(4.7)
  • Blood(4.6)
  • Bone marrow(4.2)
  • Heart(2.5)
  • Nervous system(2.4)
  • Skin(2.4)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • larynx
  • lip
  • mouth
  • neck
  • nose
  • pharynx
  • tongue
Thorax:
  • esophagus
  • heart
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with F12: view

No data available for mRNA Expression by UniProt/SwissProt for F12 Gene

Orthologs for F12 Gene

This gene was present in the common ancestor of animals.

Orthologs for F12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia F12 30 31
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia F12 30 31
  • 81.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia F12 30 31
  • 81.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia F12 30 17 31
  • 78.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia F12 30
  • 76.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia F12 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia F12 31
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia F12 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia f12 30
  • 52.47 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta EG:80H7.3 32
  • 40 (a)
CG6048 32
  • 39 (a)
CG9294 32
  • 37 (a)
Tequila 32
  • 35 (a)
Species where no ortholog for F12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for F12 Gene

ENSEMBL:
Gene Tree for F12 (if available)
TreeFam:
Gene Tree for F12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for F12: view image

Paralogs for F12 Gene

genes like me logo Genes that share paralogs with F12: view

Variants for F12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F12 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1164 Pathogenic: FACTOR XII (WASHINGTON D.C.) 177,402,372(-) A/T MISSENSE_VARIANT
695874 Benign: not provided 177,404,491(-) C/T INTRON_VARIANT
696497 Likely Benign: not provided 177,404,542(-) C/G MISSENSE_VARIANT
762590 Likely Benign: not provided 177,406,033(-) G/A SYNONYMOUS_VARIANT
904429 Uncertain Significance: Factor XII deficiency disease; Hereditary angioedema type 3 177,402,283(-) C/T THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for F12 Gene

Structural Variations from Database of Genomic Variants (DGV) for F12 Gene

Variant ID Type Subtype PubMed ID
dgv10184n54 CNV loss 21841781
dgv10185n54 CNV loss 21841781
dgv733n27 CNV loss 19166990
nsv1161311 CNV duplication 26073780
nsv1161312 CNV deletion 26073780
nsv1161313 CNV duplication 26073780
nsv471057 CNV loss 18288195
nsv509103 CNV insertion 20534489
nsv600364 CNV loss 21841781

Variation tolerance for F12 Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for F12 Gene

Human Gene Mutation Database (HGMD)
F12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F12 Gene

Disorders for F12 Gene

MalaCards: The human disease database

(26) MalaCards diseases for F12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search F12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA12_HUMAN
  • Factor XII deficiency (FA12D) [MIM:234000]: An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). {ECO:0000269 PubMed:10361128, ECO:0000269 PubMed:11776307, ECO:0000269 PubMed:15205584, ECO:0000269 PubMed:15617741, ECO:0000269 PubMed:2510163, ECO:0000269 PubMed:2882793, ECO:0000269 PubMed:8049433, ECO:0000269 PubMed:8528215, ECO:0000269 PubMed:9354665}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary angioedema 3 (HAE3) [MIM:610618]: A hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). {ECO:0000269 PubMed:16638441, ECO:0000269 PubMed:17186468}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for F12 Gene

Hageman factor deficiency,without bleeding diathesis

Additional Disease Information for F12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with F12: view

Publications for F12 Gene

  1. The functional promoter polymorphism of the coagulation factor XII gene is not associated with peripheral arterial disease. (PMID: 19625260) Yazdani-Biuki B … Renner W (Angiology 2010) 3 23 41
  2. Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels. (PMID: 19933701) Calafell F … Soria JM (Human molecular genetics 2010) 3 23 41
  3. Accumulation of gene polymorphisms related to plaque disruption and thrombosis is associated with cerebral infarction in subjects with type 2 diabetes. (PMID: 19933990) Katakami N … Yamasaki Y (Diabetes care 2010) 3 23 41
  4. The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study. (PMID: 19415820) Maitland-van der Zee AH … Eckfeldt JH (Pharmacogenetics and genomics 2009) 3 23 41
  5. Coagulation factor XII (FXII) activity, activated FXII, distribution of FXII C46T gene polymorphism and coronary risk. (PMID: 18021303) Bach J … Hellstern P (Journal of thrombosis and haemostasis : JTH 2008) 3 23 41

Products for F12 Gene

  • Signalway ELISA kits for F12
  • Signalway Proteins for F12

Sources for F12 Gene