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Aliases for F8 Gene

Aliases for F8 Gene

  • Coagulation Factor VIII, Procoagulant Component 2 3
  • F8C 3 4 6
  • Antihemophilic Factor 3 4
  • HEMA 3 6
  • AHF 3 4
  • Coagulation Factor VIIIc 3
  • Coagulation Factor VIII 3
  • Procoagulant Component 4
  • Factor VIII F8B 3
  • Factor VIIIF8B 2
  • Hemophilia A 2
  • DXS1253E 3
  • FVIII 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, Procoagulant Component) is a Protein Coding gene. Diseases associated with F8 include hemophilia a and factor viii deficiency. Among its related pathways are Hemostasis and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is NRP2.

UniProtKB/Swiss-Prot for F8 Gene

  • Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts 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

Genomic Location for F8 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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

Proteomics data for F8 Gene at MOPED

Post-translational modifications for F8 Gene

  • Sulfation on Tyr-1699 is essential for binding vWF.
  • Glycosylation at Asn60, Asn258, Asn601, Asn776, Asn803, Asn847, Asn919, Asn962, Asn982, Asn1020, Asn1024, Asn1074, Asn1085, Asn1204, Asn1274, Asn1278, Asn1301, Asn1319, Asn1431, Asn1461, Asn1829, and Asn2137
  • Modification sites at PhosphoSitePlus

Other Protein References for F8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for F8 Gene

Domains for F8 Gene

Graphical View of Domain Structure for InterPro Entry

P00451

UniProtKB/Swiss-Prot:

FA8_HUMAN :
  • P00451
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 factor IXa when it converts 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 --
genes like me logo Genes that share ontologies with F8: view
genes like me logo Genes that share phenotypes with F8: view

Animal Models for F8 Gene

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

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
extracellular 5
plasma membrane 4
cytoskeleton 3
endoplasmic reticulum 2
nucleus 2
endosome 1
golgi apparatus 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for F8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with F8: view

Pathways 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:0006953 acute-phase response IEA --
GO:0007155 cell adhesion --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with F8: view

Compounds for F8 Gene

UniProtKB/Swiss-Prot:

P00451-FA8_HUMAN
Pharmaceutical: Available under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products). Used to treat hemophilia A

(1) HMDB Compounds for F8 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for F8 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Coagulation Factor IX
  • Christmas factor
9001-28-9 target cofactor
Drotrecogin alfa
  • Anticoagulant protein C
60202-16-6 target multitarget

(95) Novoseek inferred chemical compound relationships for F8 Gene

Compound -log(P) Hits PubMed IDs
rfviii 94.3 65
kogenate 90.7 18
ristocetin 89.7 83
refacto 87.1 25
desmopressin 86.1 133
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
F8
ECgene alternative splicing isoforms for
F8

Expression for F8 Gene

mRNA expression in normal human tissues for F8 Gene

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

This gene is overexpressed in Heart - Left Ventricle (4.8) and Heart - Atrial Appendage (4.4).

Integrated Proteomics: protein expression 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 expressions with F8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.49 (n)
  • 99.15 (a)
F8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia F8 35
  • 84.33 (n)
  • 76.29 (a)
F8 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F8 35
  • 85.25 (n)
  • 77.57 (a)
F8 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F8 35
  • 82.16 (n)
  • 74.22 (a)
F8 16
F8 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F8 36
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F8 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F8 35
  • 65.61 (n)
  • 57.04 (a)
chicken
(Gallus gallus)
Aves F8 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F8 36
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii f8 36
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2640 36
  • 33 (a)
OneToMany
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

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 MAF
rs578783 -- 154,847,279(+) ttctc(A/C/G)aggag intron-variant
rs895747 -- 155,010,640(-) ATAAA(A/C)TTGAA intron-variant
rs1075949 -- 155,010,795(+) ACTGA(C/T)AACCT intron-variant
rs1075950 -- 155,010,798(+) GACAA(C/T)CTGGG intron-variant
rs1104645 -- 154,920,208(+) tgctt(G/T)ctttc intron-variant

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

Relevant External Links for F8 Gene

HapMap Linkage Disequilibrium report
F8
Human Gene Mutation Database (HGMD)
F8
Locus Specific Mutation Databases (LSDB)
F8

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

Disorders for F8 Gene

(1) OMIM Diseases for F8 Gene (300841)

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: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.

(94) Novoseek inferred disease relationships for F8 Gene

Disease -log(P) Hits PubMed IDs
hemophilia a 97.6 236
von willebrand disease 94 87
f5f8d 86.8 13
coagulopathy 86.7 100
bleeding 79.5 137

Relevant External Links for F8

GeneTests
F8
GeneReviews
F8
Genetic Association Database (GAD)
F8
Human Genome Epidemiology (HuGE) Navigator
F8
genes like me logo Genes that share disorders with F8: view

Publications for F8 Gene

  1. Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. (PMID: 2105106) Casula L. … Carbonara A. (Blood 1990) 3 4 23
  2. A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. (PMID: 10910910) Jacquemin M. … Saint-Remy J.-M.R. (Blood 2000) 3 4 23
  3. Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. (PMID: 11442643) Theophilus B.D.M. … Hill F.G.H. (Haemophilia 2001) 3 4 23
  4. Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. (PMID: 11748850) Bogdanova N. … Horst J. (Hum. Mutat. 2001) 3 4 23
  5. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PMID: 11857744) Cutler J.A. … Savidge G.F. (Hum. Mutat. 2002) 3 4 23

Products for F8 Gene

  • Addgene plasmids for F8

Sources for F8 Gene

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