Free for academic non-profit institutions. Other users need a Commercial license

Aliases for F12 Gene

Aliases for F12 Gene

  • Coagulation Factor XII 2 3
  • Coagulation Factor XII (Hageman Factor) 2 3 5
  • Hageman Factor 3 4
  • EC 3.4.21.38 4 63
  • HAF 3 4
  • 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 63
  • HAE3 3
  • HAEX 3

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 Platelet activation, signaling and aggregation. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is PLAT.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F12 Gene

Genomics for F12 Gene

Regulatory Elements for F12 Gene

Enhancers for F12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around F12 on UCSC Golden Path with GeneCards custom track

Genomic Location for F12 Gene

Chromosome:
5
Start:
177,402,138 bp from pter
End:
177,416,524 bp from pter
Size:
14,387 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

Proteomics data for F12 Gene at MOPED

Selected DME Specific Peptides for F12 Gene

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 Thr 109, Asn 249, Thr 299, Thr 305, Ser 308, Thr 328, Thr 329, Thr 337, and Asn 433
  • Modification sites at PhosphoSitePlus

Other Protein References for F12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for F12 Gene

Suggested Antigen Peptide Sequences for F12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00748

UniProtKB/Swiss-Prot:

FA12_HUMAN :
  • Contains 2 EGF-like domains.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 2 EGF-like domains.
  • Contains 1 fibronectin type-I domain.
  • Contains 1 fibronectin type-II domain.
  • Contains 1 kringle domain.
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with F12: view

No data available for Gene Families for F12 Gene

Function for F12 Gene

Molecular function for F12 Gene

GENATLAS Biochemistry:
coagulation factor XII,80kDa, (Hageman)
UniProtKB/Swiss-Prot CatalyticActivity:
Selective cleavage of Arg- -Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa.
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.

Enzyme Numbers (IUBMB) for F12 Gene

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:

Animal Model Products

  • Taconic Biosciences Mouse Models for F12

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for F12 Gene COMPARTMENTS Subcellular localization image for F12 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for F12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
genes like me logo Genes that share ontologies with F12: view

Pathways & Interactions for F12 Gene

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

Pathways by source for F12 Gene

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:0006508 proteolysis IEA --
GO:0016485 protein processing IDA 18725990
GO:0016540 protein autoprocessing IDA 18725990
GO:0030193 regulation of blood coagulation IEA --
genes like me logo Genes that share ontologies with F12: view

No data available for SIGNOR curated interactions for F12 Gene

Drugs & Compounds for F12 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanolamine Oleate Approved Pharma Target, activator 5
Enzymes Pharma 0
ANTITHROMBIN Pharma 0
METHYL 5-[(4-TERT-BUTYLBENZOYL)AMINO]-2H-1,2,4-TRIAZOLE-3-CARBOXYLATE Pharma 0
Bradykinin Pharma Full agonist, Agonist Endogenous agonist at bradykinin receptors (B2 > B1) 50

(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

Unigene Clusters for F12 Gene

Coagulation factor XII (Hageman factor):
Representative Sequences:

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
ECgene alternative splicing isoforms for
F12

Expression for F12 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for F12 Gene



SOURCE GeneReport for Unigene cluster for F12 Gene Hs.1321

genes like me logo Genes that share expression patterns with F12: view

Protein tissue co-expression partners for F12 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia F12 35
  • 81.86 (n)
  • 75.13 (a)
F12 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F12 35
  • 81.8 (n)
  • 74.18 (a)
F12 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F12 35
  • 78.37 (n)
  • 72.63 (a)
F12 16
F12 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia F12 35
  • 99.4 (n)
  • 98.86 (a)
F12 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F12 35
  • 76.78 (n)
  • 73.62 (a)
oppossum
(Monodelphis domestica)
Mammalia F12 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F12 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F12 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f12 35
  • 52.47 (n)
  • 47.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6048 37
  • 39 (a)
CG9294 37
  • 37 (a)
EG:80H7.3 37
  • 40 (a)
Tequila 37
  • 35 (a)
Species with no ortholog for F12:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for F12 Gene

Paralogs for F12 Gene

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

Variants for F12 Gene

Sequence variations from dbSNP and Humsavar for F12 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_006623 Factor XII deficiency (FA12D)
VAR_006624 Factor XII deficiency (FA12D)
rs17876030 - 177,404,825(-) CCGGA(C/G/T)CCTTC reference, missense
VAR_014337 -
VAR_014338 -

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

Variant ID Type Subtype PubMed ID
dgv6379n71 CNV Loss 21882294
nsv509103 CNV Insertion 20534489
nsv471057 CNV Loss 18288195
nsv883163 CNV Loss 21882294
nsv883164 CNV Loss 21882294
dgv733n27 CNV Loss 19166990
dgv6381n71 CNV Loss 21882294
nsv883167 CNV Loss 21882294
dgv6382n71 CNV Loss 21882294

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)

Relevant External Links for F12 Gene

Human Gene Mutation Database (HGMD)
F12

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

Disorders for F12 Gene

MalaCards: The human disease database

(16) MalaCards diseases for F12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor xii deficiency
  • deficiency, hageman
angioedema, hereditary, type iii
  • hereditary angioedema type iii
congenital factor xii deficiency
  • congenital hageman factor deficiency
hereditary angioedema
  • c1 inhibitor deficiency
angioedema
  • angioneurotic edema
- 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]: An 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

Relevant External Links for F12

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

Publications for F12 Gene

  1. Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels. (PMID: 19933701) Calafell F. … Soria J.M. (Hum. Mol. Genet. 2010) 3 23 48 67
  2. 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
  3. Combined cis-regulator elements as important mechanism affecting FXII plasma levels. (PMID: 19786295) Sabater-Lleal M. … Soria J.M. (Thromb. Res. 2010) 3 23
  4. 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
  5. Transforming growth factor-I^1 induces expression of human coagulation factor XII via Smad3 and JNK signaling pathways in human lung fibroblasts. (PMID: 20142324) Jablonska E. … Wygrecka M. (J. Biol. Chem. 2010) 3 23

Products for F12 Gene

Sources for F12 Gene

Content