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Aliases for F8 Gene

Aliases for F8 Gene

  • Coagulation Factor VIII 2 3
  • Coagulation Factor VIII, Procoagulant Component 2 3 5
  • Antihemophilic Factor 3 4
  • F8C 3 4
  • AHF 3 4
  • Coagulation Factor VIII A1 Domain 3
  • Coagulation Factor VIII C2 Domain 3
  • Coagulation Factor VIIIc 3
  • Procoagulant Component 4
  • Factor VIII F8B 3
  • Factor VIIIF8B 2
  • Hemophilia A 2
  • DXS1253E 3
  • FVIII 3
  • HEMA 3
  • F8B 3

External Ids for F8 Gene

Previous HGNC Symbols for F8 Gene

  • F8C

Previous GeneCards Identifiers for F8 Gene

  • GC0XM148127
  • GC0XM150444
  • GC0XM151651
  • GC0XM152532
  • GC0XM153627
  • GC0XM153717
  • GC0XM154064
  • GC0XM142607

Summaries for F8 Gene

Entrez Gene Summary for F8 Gene

  • 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]

GeneCards Summary for F8 Gene

F8 (Coagulation Factor VIII) is a Protein Coding gene. Diseases associated with F8 include Hemophilia A and Factor Viii Deficiency. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Transport to the Golgi and subsequent modification. GO annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is HEPHL1.

UniProtKB/Swiss-Prot for F8 Gene

  • Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.

Gene Wiki entry for F8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F8 Gene

Genomics for F8 Gene

Regulatory Elements for F8 Gene

Enhancers for F8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around F8 on UCSC Golden Path with GeneCards custom track

Promoters for F8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around F8 on UCSC Golden Path with GeneCards custom track

Genomic Location for F8 Gene

154,835,788 bp from pter
155,026,940 bp from pter
191,153 bases
Minus strand

Genomic View for F8 Gene

Genes around F8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F8 Gene

Proteins for F8 Gene

  • Protein details for F8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coagulation factor VIII
    Protein Accession:
    Secondary Accessions:
    • Q14286
    • Q5HY69

    Protein attributes for F8 Gene

    2351 amino acids
    Molecular mass:
    267009 Da
    Quaternary structure:
    • Interacts with VWF/vWF. vWF binding is essential for the stabilization of F8 in circulation.

    Three dimensional structures from OCA and Proteopedia for F8 Gene

    Alternative splice isoforms for F8 Gene


neXtProt entry for F8 Gene

Proteomics data for F8 Gene at MOPED

Post-translational modifications for F8 Gene

  • Sulfation on Tyr-1699 is essential for binding vWF.
  • Glycosylation at Asn 60, Asn 258, Asn 601, Asn 776, Asn 803, Asn 847, Asn 919, Asn 962, Asn 982, Asn 1020, Asn 1024, Asn 1074, Asn 1085, Asn 1204, Asn 1274, Asn 1278, Asn 1301, Asn 1319, Asn 1431, Asn 1461, Asn 1829, and Asn 2137
  • Modification sites at PhosphoSitePlus

Other Protein References for F8 Gene

No data available for DME Specific Peptides for F8 Gene

Domains & Families for F8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity.
  • Belongs to the multicopper oxidase family.
  • Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity.
  • Contains 3 F5/8 type A domains.
  • Contains 2 F5/8 type C domains.
  • Contains 6 plastocyanin-like domains.
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with F8: view

No data available for Gene Families for F8 Gene

Function for F8 Gene

Molecular function for F8 Gene

UniProtKB/Swiss-Prot Function:
Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
genes like me logo Genes that share phenotypes with F8: view

Human Phenotype Ontology for F8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F8 Gene

MGI Knock Outs for F8:
  • F8 tm1Kaz
  • F8 tm2Kaz

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for F8 Gene

Localization for F8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F8 Gene

Secreted, extracellular space.

Subcellular locations from

Jensen Localization Image for F8 Gene COMPARTMENTS Subcellular localization image for F8 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 4
plasma membrane 4
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for F8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS --
genes like me logo Genes that share ontologies with F8: view

Pathways & Interactions for F8 Gene

genes like me logo Genes that share pathways with F8: view

Gene Ontology (GO) - Biological Process for F8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006953 acute-phase response IEA --
GO:0007596 blood coagulation TAS --
GO:0007597 blood coagulation, intrinsic pathway TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with F8: view

No data available for SIGNOR curated interactions for F8 Gene

Drugs & Compounds for F8 Gene

(68) Drugs for F8 Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Drotrecogin alfa Approved, Investigational, Withdrawn Pharma inhibitor, Target, multitarget 0
Coagulation Factor IX Approved Pharma Target, cofactor 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR, Cytotoxic agent 1466
Folic Acid Approved Nutra 4079
calcium Nutra 0

(52) Additional Compounds for F8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with F8: view

Transcripts for F8 Gene

Unigene Clusters for F8 Gene

Coagulation factor VIII, procoagulant component:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F8 Gene

No ASD Table

Relevant External Links for F8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for F8 Gene

mRNA expression in normal human tissues for F8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F8 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8) and Heart - Atrial Appendage (x4.4).

Protein differential expression in normal tissues from HIPED for F8 Gene

This gene is overexpressed in Serum (28.9), Plasma (19.0), and Retina (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for F8 Gene

SOURCE GeneReport for Unigene cluster for F8 Gene Hs.632836

genes like me logo Genes that share expression patterns with F8: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for F8 Gene

Orthologs for F8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for F8 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia F8 35
  • 84.33 (n)
  • 76.29 (a)
F8 36
  • 76 (a)
(Canis familiaris)
Mammalia F8 35
  • 85.25 (n)
  • 77.57 (a)
F8 36
  • 78 (a)
(Mus musculus)
Mammalia F8 35
  • 82.16 (n)
  • 74.22 (a)
F8 16
F8 36
  • 74 (a)
(Pan troglodytes)
Mammalia F8 35
  • 99.49 (n)
  • 99.15 (a)
F8 36
  • 99 (a)
(Rattus norvegicus)
Mammalia F8 35
  • 65.61 (n)
  • 57.04 (a)
(Monodelphis domestica)
Mammalia F8 36
  • 43 (a)
(Ornithorhynchus anatinus)
Mammalia F8 36
  • 51 (a)
(Gallus gallus)
Aves F8 36
  • 46 (a)
(Anolis carolinensis)
Reptilia F8 36
  • 40 (a)
(Danio rerio)
Actinopterygii f8 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 36
  • 33 (a)
Species with no ortholog for F8:
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F8 Gene

Gene Tree for F8 (if available)
Gene Tree for F8 (if available)

Paralogs for F8 Gene

Paralogs for F8 Gene

genes like me logo Genes that share paralogs with F8: view

Variants for F8 Gene

Sequence variations from dbSNP and Humsavar for F8 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_001045 Hemophilia A (HEMA)
VAR_001046 Hemophilia A (HEMA)
VAR_001047 Hemophilia A (HEMA)
VAR_001048 Hemophilia A (HEMA)
rs1800288 - 154,999,520(-) CACGG(A/T)TCACC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for F8 Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV Gain+Loss 17666407
esv29972 CNV Gain 17803354

Variation tolerance for F8 Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F8 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F8 Gene

Disorders for F8 Gene

MalaCards: The human disease database

(42) MalaCards diseases for F8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemophilia a
  • factor viii deficiency
factor viii deficiency
  • hemophilia a
severe hemophilia a
  • severe factor viii deficiency
mild hemophilia a
  • mild factor viii deficiency
moderately severe hemophilia a
  • moderately severe factor viii deficiency
- elite association - COSMIC cancer census association via MalaCards
Search F8 in MalaCards View complete list of genes associated with diseases


  • Hemophilia A (HEMA) [MIM:306700]: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. {ECO:0000269 PubMed:10215414, ECO:0000269 PubMed:10338101, ECO:0000269 PubMed:10404764, ECO:0000269 PubMed:10408784, ECO:0000269 PubMed:10554831, ECO:0000269 PubMed:10612839, ECO:0000269 PubMed:10691849, ECO:0000269 PubMed:10800171, ECO:0000269 PubMed:10886198, ECO:0000269 PubMed:10896236, ECO:0000269 PubMed:10910910, ECO:0000269 PubMed:10910913, ECO:0000269 PubMed:11298607, ECO:0000269 PubMed:11341489, ECO:0000269 PubMed:11410838, ECO:0000269 PubMed:11442643, ECO:0000269 PubMed:11442647, ECO:0000269 PubMed:11554935, ECO:0000269 PubMed:11748850, ECO:0000269 PubMed:11857744, ECO:0000269 PubMed:11858487, ECO:0000269 PubMed:12195713, ECO:0000269 PubMed:12199686, ECO:0000269 PubMed:12203998, ECO:0000269 PubMed:12325022, ECO:0000269 PubMed:12351418, ECO:0000269 PubMed:12406074, ECO:0000269 PubMed:12614369, ECO:0000269 PubMed:12871415, ECO:0000269 PubMed:12930394, ECO:0000269 PubMed:1301194, ECO:0000269 PubMed:1301932, ECO:0000269 PubMed:1301960, ECO:0000269 PubMed:1349567, ECO:0000269 PubMed:1356412, ECO:0000269 PubMed:15682412, ECO:0000269 PubMed:15810915, ECO:0000269 PubMed:1639429, ECO:0000269 PubMed:16805874, ECO:0000269 PubMed:18184865, ECO:0000269 PubMed:1851341, ECO:0000269 PubMed:1908096, ECO:0000269 PubMed:1908817, ECO:0000269 PubMed:1973901, ECO:0000269 PubMed:2104766, ECO:0000269 PubMed:2105106, ECO:0000269 PubMed:2105906, ECO:0000269 PubMed:2106480, ECO:0000269 PubMed:2107542, ECO:0000269 PubMed:21371196, ECO:0000269 PubMed:2495245, ECO:0000269 PubMed:2498882, ECO:0000269 PubMed:2499363, ECO:0000269 PubMed:2506948, ECO:0000269 PubMed:2510835, ECO:0000269 PubMed:25550078, ECO:0000269 PubMed:26278069, ECO:0000269 PubMed:2833855, ECO:0000269 PubMed:2835904, ECO:0000269 PubMed:3012775, ECO:0000269 PubMed:3122181, ECO:0000269 PubMed:7579394, ECO:0000269 PubMed:7759074, ECO:0000269 PubMed:7794769, ECO:0000269 PubMed:8322269, ECO:0000269 PubMed:8449505, ECO:0000269 PubMed:8639447, ECO:0000269 PubMed:8644728, ECO:0000269 PubMed:8759905, ECO:0000269 PubMed:9029040, ECO:0000269 PubMed:9326186, ECO:0000269 PubMed:9341862, ECO:0000269 PubMed:9450898, ECO:0000269 PubMed:9452104, ECO:0000269 PubMed:9569180, ECO:0000269 PubMed:9569189, ECO:0000269 PubMed:9603440, ECO:0000269 PubMed:9792405, ECO:0000269 PubMed:9829908, ECO:0000269 PubMed:9886318}. Note=The disease is caused by mutations affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.

Relevant External Links for F8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with F8: view

No data available for Genatlas for F8 Gene

Publications for F8 Gene

  1. Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA. (PMID: 3935400) Truett M.A. … Ezban M. (DNA 1985) 2 3 4 67
  2. Trp2313-His2315 of factor VIII C2 domain is involved in membrane binding: structure of a complex between the C2 domain and an inhibitor of membrane binding. (PMID: 20089867) Liu Z. … Huang M. (J. Biol. Chem. 2010) 3 23
  3. Endothelial cell processing and alternatively spliced transcripts of factor VIII: potential implications for coagulation cascades and pulmonary hypertension. (PMID: 20174619) Shovlin C.L. … Mauri F.A. (PLoS ONE 2010) 3 23
  4. Structural investigation of zymogenic and activated forms of human blood coagulation factor VIII: a computational molecular dynamics study. (PMID: 20184747) Venkateswarlu D. (BMC Struct. Biol. 2010) 3 23
  5. The influence of von Willebrand factor on factor VIII activity measurements. (PMID: 18983499) Butenas S. … Mann K.G. (J. Thromb. Haemost. 2009) 3 23

Products for F8 Gene

Sources for F8 Gene