Entity Details

Primary name F7
Entity type gene
Source Source Link

Details

PrimaryID2155
RefseqGeneNG_009262
SymbolF7
Namecoagulation factor VII
Chromosome13
Location13q34
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1990-01-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFA7_HUMAN

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0002690 positive regulation of leukocyte chemotaxis
GO:0004252 serine-type endopeptidase activity
GO:0005102 signaling receptor binding
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0007596 blood coagulation
GO:0007598 blood coagulation, extrinsic pathway
GO:0007623 circadian rhythm
GO:0008236 serine-type peptidase activity
GO:0010037 response to carbon dioxide
GO:0010641 positive regulation of platelet-derived growth factor receptor signaling pathway
GO:0016485 protein processing
GO:0030194 positive regulation of blood coagulation
GO:0030335 positive regulation of cell migration
GO:0031100 animal organ regeneration
GO:0031982 vesicle
GO:0032355 response to estradiol
GO:0032571 response to vitamin K
GO:0033595 response to genistein
GO:0043627 response to estrogen
GO:0050927 positive regulation of positive chemotaxis
GO:0051897 positive regulation of protein kinase B signaling
GO:0060416 response to growth hormone
GO:0061476 response to anticoagulant
GO:0062023 collagen-containing extracellular matrix
GO:0070723 response to cholesterol
GO:0097068 response to thyroxine
GO:1904400 response to Thyroid stimulating hormone
GO:1904612 response to 2,3,7,8-tetrachlorodibenzodioxine
GO:1905217 response to astaxanthin
GO:1905225 response to thyrotropin-releasing hormone
GO:1905286 serine-type peptidase complex
GO:2000264 negative regulation of blood coagulation, extrinsic pathway

Diseases

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Disease IDSourceNameDescription
227500 OMIMFactor VII deficiency (FA7D)A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. The disease is caused by variants affecting the gene represented in this entry.