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Aliases for F8 Gene

Aliases for F8 Gene

  • Coagulation Factor VIII 2 3 5
  • Coagulation Factor VIII, Procoagulant Component 2 3
  • 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 Severe Hemophilia A. Among its related pathways are Collagen biosynthesis and modifying enzymes 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 F5.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF154723 1.5 FANTOM5 Ensembl ENCODE 2.3 +294.9 294940 18.0 HDGF PKNOX1 ZFP64 SIN3A ZNF2 GLIS2 ELK1 ZNF143 KLF7 FOS SNORA70 F8A1 SNORA56 EMD PLXNA3 HCFC1 F8A2 MIR664B DKC1 MPP1
GH0XF155025 1.2 FANTOM5 ENCODE 0.8 -0.7 -718 3.7 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 YY1 ZNF207 FOS KLF13 SP3 F8A1 GAB3 IKBKG F8A2 MPP1 F8 CMC4
GH0XF155049 0.8 Ensembl 0.3 -22.4 -22361 0.2 SCRT1 CTCF ZNF654 SCRT2 RAD21 F8A1 BRCC3 CMC4 MTCP1 F8
GH0XF155056 1.2 Ensembl ENCODE 0.3 -30.4 -30409 1.5 CTCF ATF1 TEAD4 ZNF2 RAD21 RFX5 TEAD3 POLR2A ZNF143 SMC3 F8A1 TMLHE FAM3A CMC4 F8
GH0XF155067 0.5 ENCODE 0.2 -43.3 -43313 4.9 ARID4B GLI4 ZNF2 YY1 GLIS2 ELK1 FOS SP3 YY2 NFYC DNASE1L1 CMC4 F8
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000483283 -561 3000 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 YY1 ZNF207 FOS KLF13 SP3

Genomic Location for F8 Gene

Chromosome:
X
Start:
154,835,788 bp from pter
End:
155,026,940 bp from pter
Size:
191,153 bases
Orientation:
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:
    P00451-FA8_HUMAN
    Recommended name:
    Coagulation factor VIII
    Protein Accession:
    P00451
    Secondary Accessions:
    • Q14286
    • Q5HY69

    Protein attributes for F8 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for F8 Gene

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

P00451

UniProtKB/Swiss-Prot:

FA8_HUMAN :
  • Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity.
  • Belongs to the multicopper oxidase family.
Domain:
  • 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.
Family:
  • 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.

Gene Ontology (GO) - Molecular Function for F8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 7756647
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with F8: view
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

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for F8

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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:0000139 Golgi membrane IEA --
GO:0005576 extracellular region NAS,TAS --
GO:0005615 extracellular space IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma 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:0002576 platelet degranulation TAS --
GO:0006508 proteolysis IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006953 acute-phase response IEA --
GO:0007596 blood coagulation IEA,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

(70) 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 (Recombinant) Approved Pharma Target, cofactor 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1518
Folic Acid Approved, Vet_approved Nutra 4279
calcium Nutra 0

(49) 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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for F8

Flow Cytometry Products

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

No ASD Table

Relevant External Links for F8 Gene

GeneLoc Exon Structure for
F8
ECgene alternative splicing isoforms for
F8

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



NURSA nuclear receptor signaling pathways regulating expression of F8 Gene:

F8

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 Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia F8 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia F8 34 35
  • 85.25 (n)
cow
(Bos Taurus)
Mammalia F8 34 35
  • 84.33 (n)
mouse
(Mus musculus)
Mammalia F8 34 16 35
  • 82.16 (n)
rat
(Rattus norvegicus)
Mammalia F8 34
  • 65.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia F8 35
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F8 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves F8 35
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F8 35
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii f8 35
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 35
  • 33 (a)
OneToMany
Species where no ortholog for F8 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for F8 (if available)
TreeFam:
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
rs111033613 Hemophilia A (HEMA) [MIM:306700], Pathogenic 154,928,668(-) GCCCC(C/T)GCAGC reference, missense
rs137852355 Hemophilia A (HEMA) [MIM:306700], Pathogenic 154,861,759(-) AAGCT(C/G/T)GACTT reference, missense, stop-gained
rs137852358 Hemophilia A (HEMA) [MIM:306700], Hemophilia A (HEMA) [MIM:306700], Pathogenic 154,861,758(-) AGCTC(A/G/T)ACTTC reference, missense
rs137852359 Hemophilia A (HEMA) [MIM:306700], Pathogenic 154,969,468(-) CCTCG(A/G)AGGTC reference, missense
rs137852360 Hemophilia A (HEMA) [MIM:306700], Hemophilia A (HEMA) [MIM:306700], Pathogenic 154,837,676(-) CCTTC(A/G/T)AATTC reference, missense

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

Variant ID Type Subtype PubMed ID
esv29972 CNV gain 17803354
esv33784 CNV gain+loss 17666407
esv3577568 CNV gain 25503493
esv3577569 CNV gain 25503493
nsv1076287 CNV deletion 25765185
nsv1132792 CNV duplication 24896259

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)
F8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F8

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

Disorders for F8 Gene

MalaCards: The human disease database

(65) 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
severe hemophilia a
  • severe factor viii deficiency
mild hemophilia a
  • mild factor viii deficiency
moderately severe hemophilia a
  • moderately severe factor viii deficiency
symptomatic form of hemophilia a in female carriers
- elite association - COSMIC cancer census association via MalaCards
Search F8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA8_HUMAN
  • 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)
F8
Human Genome Epidemiology (HuGE) Navigator
F8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F8
genes like me logo Genes that share disorders with F8: view

No data available for Genatlas for F8 Gene

Publications for F8 Gene

  1. Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. (PMID: 19740093) Coppola A. … Di Minno G. (J. Thromb. Haemost. 2009) 3 22 46 64
  2. The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A. (PMID: 18371163) Ma G.C. … Shen M.C. (Haemophilia 2008) 3 22 46 64
  3. Analysing two dinucleotide repeats of FVIII gene in Iranian population. (PMID: 17973851) Rabbani B. … Zeinali S. (Haemophilia 2007) 3 22 46 64
  4. [A study on the (CA)n in FVIII gene in Han ethnic group in Guangxi Zhuang Autonomous Region by amplification polymorphisms combined with silver staining]. (PMID: 17349154) Zhu C.J. … Zheng M.C. (Zhonghua Er Ke Za Zhi 2007) 3 22 46 64
  5. Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis. (PMID: 16732372) Nossent A.Y. … Rosendaal F.R. (Thromb. Haemost. 2006) 3 22 46 64

Products for F8 Gene

Sources for F8 Gene

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