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Aliases for F12 Gene

Aliases for F12 Gene

  • Coagulation Factor XII (Hageman Factor) 2 3
  • HAF 3 4 6
  • Hageman Factor 3 4
  • EC 3.4.21.38 4 64
  • HAE3 3 6
  • Coagulation Factor XIIa Heavy Chain 3
  • Coagulation Factor XIIa Light Chain 3
  • Beta-Factor XIIa Part 1 3
  • Beta-Factor XIIa Part 2 3
  • Coagulation Factor XII 3
  • EC 3.4.21 64
  • HAEX 3

External Ids for F12 Gene

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 (Hageman Factor)) is a Protein Coding gene. Diseases associated with F12 include factor xii deficiency and angioedema, hereditary, type iii. Among its related pathways are Hemostasis and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include serine-type endopeptidase activity and serine-type aminopeptidase 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

Genomic Location for F12 Gene

Start:
177,402,138 bp from pter
End:
177,409,576 bp from pter
Size:
7,439 bases
Orientation:
Minus strand

Genomic View for F12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for F12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F12 Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr109, Asn249, Thr299, Thr305, Ser308, Thr328, Thr329, Thr337, and Asn433

Other Protein References for F12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for F12 Gene

UniProtKB/Swiss-Prot:

FA12_HUMAN
Domain:
  • Contains 2 EGF-like domains.:
    • P00748
  • Contains 1 fibronectin type-I domain.:
    • P00748
  • Contains 1 fibronectin type-II domain.:
    • P00748
  • Contains 1 kringle domain.:
    • P00748
  • Contains 1 peptidase S1 domain.:
    • P00748
Family:
  • Belongs to the peptidase S1 family.:
    • P00748
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

Gene Ontology (GO) - Molecular Function for F12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IDA 18725990
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 21304106
GO:0008233 peptidase activity --
genes like me logo Genes that share ontologies with F12: view
genes like me logo Genes that share phenotypes with F12: view

Animal Models for F12 Gene

MGI Knock Outs for F12:

No data available for miRNA , Transcription Factor Targeting 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 4

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 IDA 6793628
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with F12: view

Pathways for F12 Gene

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

Pathways by source for F12 Gene

1 R&D Systems pathway for F12 Gene
1 GeneGo (Thomson Reuters Life Sciences Research) pathway 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 18725990
GO:0002542 Factor XII activation IDA 18725990
GO:0006508 proteolysis --
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
genes like me logo Genes that share ontologies with F12: view

Compounds for F12 Gene

(1) HMDB Compounds for F12 Gene

Compound Synonyms Cas Number PubMed IDs
Bradykinin
  • Callidin I
58-82-2

(10) Novoseek inferred chemical compound relationships for F12 Gene

Compound -log(P) Hits PubMed IDs
kininogen 85.6 13
kaolin 59 1
serine 30.6 3
heparin 9.08 1
vitamin-e 1.64 1

(1) PharmGKB related drug/compound annotations for F12 Gene

Drug/compound Annotation
Enzymes CA
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 (44.8).

Integrated Proteomics: protein expression 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 expressions with F12: view

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 36
  • 99.4 (n)
  • 98.86 (a)
F12 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia F12 36
  • 81.86 (n)
  • 75.13 (a)
F12 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F12 36
  • 81.8 (n)
  • 74.18 (a)
F12 37
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F12 36
  • 78.37 (n)
  • 72.63 (a)
F12 16
F12 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F12 37
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F12 37
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F12 36
  • 76.78 (n)
  • 73.62 (a)
lizard
(Anolis carolinensis)
Reptilia F12 37
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f12 36
  • 52.47 (n)
  • 47.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6048 38
  • 39 (a)
Tequila 38
  • 35 (a)
EG:80H7.3 38
  • 40 (a)
CG9294 38
  • 37 (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 MAF
rs1363352 -- 177,410,791(-) TCTCA(G/T)TAAAT upstream-variant-2KB
rs1801020 Benign 177,409,531(-) ACGGA(C/T)GCCAT utr-variant-5-prime
rs2230939 - 177,404,084(-) CTTGC(A/C/T)GGCGA missense, reference
rs2252316 -- 177,410,503(-) gctaa(C/T)acagt upstream-variant-2KB
rs2252317 -- 177,410,489(-) acccc(A/C/G)tctct upstream-variant-2KB

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

Relevant External Links for F12 Gene

HapMap Linkage Disequilibrium report
F12
Human Gene Mutation Database (HGMD)
F12
Locus Specific Mutation Databases (LSDB)
F12

Disorders for F12 Gene

(2) OMIM Diseases for F12 Gene (610619)

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.

(12) Novoseek inferred disease relationships for F12 Gene

Disease -log(P) Hits PubMed IDs
factor xii deficiency 85.5 6
angioedema, hereditary 78.9 3
angioedema 51.4 3
thrombophilia 50.4 2
miscarriage recurrent 46.5 2

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

Publications for F12 Gene

  1. Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg-353-->Pro leading to loss of a kallikrein cleavage site. (PMID: 8049433) Hovinga J.K. … Laemmle B. (Blood 1994) 3 4 23
  2. A common C-->T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity. (PMID: 11248286) Endler G. … Quehenberger P. (Thromb. Res. 2001) 3 23 49
  3. Coagulation factor XII activity, but not an associated common genetic polymorphism (46C/T),is linked to recurrent miscarriage. (PMID: 11821096) Iinuma Y. … Suzumori K. (Fertil. Steril. 2002) 3 23 49
  4. Rapid detection of the 46C --> T polymorphism in the factor XII gene, a novel genetic risk factor for thrombosis, by melting peak analysis using fluorescence hybridization probes. (PMID: 15000805) Tirado I. … Soria J.M. (Genet. Test. 2003) 3 23 49
  5. Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. (PMID: 15116249) Tirado I. … Fontcuberta J. (Thromb. Haemost. 2004) 3 23 49

Products for F12 Gene

Sources for F12 Gene

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