Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | F12 | contributors: mct/npt - updated : 15/09/2008 |
HGNC name | coagulation factor XII (Hageman factor) |
HGNC id | 3530 |
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Corresponding disease |
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Location | 5q35.3 Physical location : 176.829.140 - 176.836.577 | ||||
Synonym name | |||||
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Synonym symbol(s) | HAF, HAEX | ||||
EC.number | 3.4.21.38 |
DNA |
TYPE | functioning gene |
STRUCTURE | 7.44 kb 14 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Promoter |
Binding site hormone HRE | |
text structure | estrogen-responsive elements in the promoter region |
MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | restricted |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
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cell lineage
cell lines
| fluid/secretion
| serum | |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
isoforms | Precursor | zymogen |
HOMOLOGY |
interspecies | homolog to rattus F12 (73.5 pc) |
homolog to murine F12 (72.2 pc) |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | extracellular |
basic FUNCTION | |
coagulation, fibrinolysis, and the generation of bradykinin and angiotensin |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | coagulation/hemostasis |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein | |
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cell & other |
REGULATION |
activated by | cleavage producing a heavy and a light (catalytic) chains |
Other | positively regulated by estrogens |
ASSOCIATED DISORDERS |
corresponding disease(s) | F12 , HAE3 |
Susceptibility | to shortening of the activated partial thromboplastin time (aPTT) |
Variant & Polymorphism SNP | s2731672 increasing the risk of aPTT (Houlihan 2010) |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |