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Aliases & Descriptions for F12
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.4.21.38 3 | | HAE3 2, 5 | | HAEX 2 | | HAF 2, 3, 5 |
| | | Descriptions |
|---|
| Hageman factor 2, 3 | | beta-factor XIIa part 1 2 | | beta-factor XIIa part 2 2 | | coagulation factor XII 2 | | coagulation factor XII (Hageman factor) 2 | | coagulation factor XIIa heavy chain 2 | | coagulation factor XIIa light chain 2 |
|
| | Search outside databases for aliases for F12 genePrevious GC identifers: GC05M177202 GC05M177671 GC05M176764 GC05M176810 |
Summaries for F12(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for F12: 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] UniProtKB/Swiss-Prot: FA12_HUMAN, P00748Function: 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 to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIaGene Wiki entry for F12 (Factor_XII) |
Genomic Location for F12
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the F12 gene 
Entrez Gene cytogenetic band: 5q33-qter Ensembl cytogenetic band: 5q35.3 HGNC cytogenetic band: 5q33-qterF12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M176761:
(about GC identifiers)
Start:
|
176,761,745 bp from pter |
End:
|
176,769,183 bp from pter |
Size:
|
7,439 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000005.8 NT_023133.12
| Proteins for F12
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FA12_HUMAN, P00748 (See
protein sequence)Recommended Name: Coagulation factor XII precursor Size: 615 amino acids; 67818 Da
Subcellular location: Secreted
Secondary accessions: P78339Post-translational modifications:
O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc1
REFSEQ proteins: NP_000496.2
ENSEMBL proteins: ENSP00000253496
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- | | GO:0005615 | extracellular space |
IEA | -- | About this table
Antibodies for F12: Assays for F12: | Protein
Domains/ Families for F12(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P00748
ProtoNet protein and cluster: P00748 5/6 Blocks protein families (see all 6
): IPB000001 Kringle IPB000083 Fibronectin IPB000562 Type II fibronectin collagen-binding domain IPB001254 Serine protease IPB001314 Chymotrypsin serine protease family (S1) signature
UniProtKB/Swiss-Prot: FA12_HUMAN, P00748Similarity: Belongs to the peptidase S1 familySimilarity: Contains 2 EGF-like domainsSimilarity: Contains 1 fibronectin type-I domainSimilarity: Contains 1 fibronectin type-II domainSimilarity: Contains 1 kringle domainSimilarity: Contains 1 peptidase S1 domain | Gene Function for F12
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000505
Applied Biosystems Silencer® siRNAs for F12
Sigma-Aldrich siRNA and siRNA Panels for F12  Sigma-Aldrich shRNA for F12  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000505                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000505                                  untagged cDNA clone in CMV expression vector: NM_000505 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000505
UniProtKB/Swiss-Prot: FA12_HUMAN, P00748Function: 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 to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIaCatalytic activity: Selective cleavage of Arg- -Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIaEnzyme Number (IUBMB): EC 3.4.21.38 Genatlas biochemistry entry for F12:coagulation factor XII,80kDa, (Hageman)3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for F12):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for F12
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for F12 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for F12 
5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10
): About this table
|
Drugs & Compounds for F12(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for F12 4 Novoseek chemical compound relationships for F12 gene
About this table
|
Transcripts for F12(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000505
Sigma-Aldrich siRNA and siRNA Panels for F12  Sigma-Aldrich shRNA for F12  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000505 REFSEQ mRNAs for F12 gene: NM_000505.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000505               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000505                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000505                                  untagged cDNA clone in CMV expression vector: NM_000505  Additional cDNA sequence: AB095845.1 BC012390.1 BT007350.1 CR601747.1 CR602253.1 CR616520.1 M11723.1 M13147.1 M31315.1 9 DOTS entries: DT.312633 DT.92424230 DT.95077161 DT.100755217 DT.100755218 DT.120810943 DT.92424226 DT.95263422 DT.92424234 24/78 AceView cDNA sequences (see all 78
):BC012390 BG533735 BF530348 BQ276450 AW291360 BM563198 BM784735 CR601747 BG531824 BF513608 BM765106 AB095845 AL564533 BM745007 BG248482 BM995940 BX095486 BE796109 BM820716 BM826182 BM781626 CR602253 BX431924 CD608657
highest scoring ESTs for F12:M31315 AB095845 M11723 AA039335 AA052968 AA381115 AA447259 AI023410 AI984145 AL531940 Unigene Cluster for F12: Coagulation factor XII (Hageman factor) Hs.1321 [show with all ESTs]Unigene Representative Sequence: NM_000505
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for F12
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | |
| SP1: | |   | |   | |   | |   | |   | |   | - |   | |   | |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for F12
1 Ensembl transcript including schematic representation: ENST00000253496
|
Expression for F12
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| F12 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for F12
1 / 2 / 3 3 probe-sets matching F12 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAAGGCAAGA
SOURCE GeneReport for Unigene cluster: Hs.1321
Expression variation in blood from EXPOLDB for F12 |
Orthologs for F12
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for F12 gene from 5 species
About this table Species with no ortholog for F12
ENSEMBL Gene Tree for F12 | Paralogs for F12(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for F12 gene
- HABP22 PLAU2 PLAT2 HGFAC2
|
SNPs/Variants for F12(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for F12 (up to first 250kb)
|
Disorders & Mutations for F12
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 610619 disorders: 234000 610618 UniProtKB/Swiss-Prot: FA12_HUMAN, P00748
Defects in F12 are the cause of factor XII deficiency (FA12D) [MIM:234000]; also known as Hageman factor deficiency. This trait is 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. F12 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) Defects in F12 are the cause of hereditary angioedema type 3 (HAE3) [MIM:610618]; also known as estrogen-related HAE or hereditary angioneurotic edema with normal C1 inhibitor concentration and function. HAE is characterized by episodic local subcutaneous edema, and submucosal edema involving the upper respiratory and gastrointestinal tracts. HAE3 occurs exclusively in women and is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). It differs from HAE types 1 and 2 in that both concentration and function of C1 inhibitor are normal10/12 Novoseek disease relationships for F12 gene (see all 12
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| factor xii deficiency |
84.33 |
5 |
1550105 (1), 12876626 (1), 9856928 (1), 9473199 (1) (see all 5) |
| angioedema, hereditary |
74.04 |
2 |
16638441 (1), 17186468 (1) |
| angioedema |
53.82 |
4 |
19178938 (3) |
| thrombophilia |
53.09 |
2 |
15116249 (1), 10650856 (1) |
| miscarriage recurrent |
49.17 |
2 |
11821096 (1), 11438345 (1) |
| venous thrombosis |
33.65 |
2 |
15116249 (1), 11755949 (1) |
| thrombosis |
32.20 |
3 |
17982641 (1), 10650856 (1), 11755949 (1) |
| arterial thrombosis |
29.10 |
1 |
17388965 (1) |
| thromboembolism |
19.97 |
1 |
9856928 (1) |
| cerebrovascular disease |
11.86 |
1 |
10669178 (1) |
About this table
Genatlas disease: F12 Hageman factor deficiency,without bleeding diathesis Human Gene Mutation Database: F12 Genetic Association Database: F12 Human Genome Epidemiology Navigator: F12 (36 documents)
|
Medical News for F12(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for F12 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/158 PubMed articles for F12 gene (see all 158
):- Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. (PubMed id 17186468)1, 3, 4 Cichon S....Noethen M.M. (2006)
- Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. (PubMed id 16638441)1, 3, 4 Dewald G. and Bork K. (2006)
- Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. (PubMed id 15116249)1, 3, 6 Tirado I....Fontcuberta J. (2004)
- A common C-->T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity. (PubMed id 11248286)1, 3, 6 Endler G....Quehenberger P. (2001)
- 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. (PubMed id 8049433)1, 3, 4 Hovinga J.K....Laemmle B. (1994)
- Coagulation factor XII activity, but not an associated common genetic polymorphism (46C/T),is linked to recurrent miscarriage. (PubMed id 11821096)1, 3, 6 Iinuma Y....Suzumori K. (2002)
- The C46T polymorphism of the coagulation factor XII gene and idiopathic recurrent miscarriage. (PubMed id 16167952)1, 3, 6 Walch K....Unfried G. (2005)
- 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. (PubMed id 15000805)1, 3, 6 Tirado I....Soria J.M. (2003)
- Role of thrombophilic gene polymorphisms in branch retinal vein occlusion. (PubMed id 16157382)3, 6 Weger M....Haas A. (2005)
- Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)3, 4 Liu T.... Smith R.D. (2005)
|
Search for F12
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing F12
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing F12
(According to HUGE)
About This Section
| -- |
Specialized Databases showing F12(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| Wikipedia | http://en.wikipedia.org/wiki/Factor_XII | | F12base | http://bioinf.uta.fi/F12base/ | | SeattleSNPs | http://pga.gs.washington.edu/data/f12/ |
|
| | | About This Section
| --
| Services for F12(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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