F8


Summary: This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:300841
PHARMGKB IDPA27952
Map LocationXq28

Gene Categories:

DRUGGABLE GENOME

GO terms in F8


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IEA GO:0005507 copper ion binding
MF IPI GO:0005515 protein binding
MF IEA GO:0016491 oxidoreductase activity
MF IBA GO:0070492 oligosaccharide binding
BP TAS GO:0002576 platelet degranulation
BP TAS GO:0006888 ER to Golgi vesicle-mediated transport
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Gene expression in normal tissue: F8

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 55undefinedtissue: undefined cancer: SMALL_CELL_CARCINOMA model num: 18undefinedtissue: undefined cancer: ADENOCARCINOMA model num: 3LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 38BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 23OVARtissue: OVAR cancer: OVARY model num: 0OVARYtissue: OVARY cancer: undefined model num: 8

Gene-drug pathway distribution

Pathways in F8


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Database
Pathway ID
Pathway Des.
biocarta intrinsicpathway intrinsic prothrombin activation pathway
reactome R-HSA-109582 Hemostasis
reactome R-HSA-114608 Platelet degranulation
reactome R-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation
reactome R-HSA-140875 Common Pathway of Fibrin Clot Formation
reactome R-HSA-140877 Formation of Fibrin Clot (Clotting Cascade)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD872 BRD7137 2
iGMDRD286 Nsc 632839 2
iGMDRD871 BRD6368 4
iGMDRD662 JQ-1 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in F8

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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