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 circulate... See more...

Aliases for F8 Gene

Aliases for F8 Gene

  • Coagulation Factor VIII 2 3 4 5
  • Coagulation Factor VIII, Procoagulant Component 2 3
  • Antihemophilic Factor 3 4
  • DXS1253E 2 3
  • FVIII 2 3
  • HEMA 2 3
  • AHF 3 4
  • F8C 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
  • F8B 3
  • F8 5

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 Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and copper ion binding. An important paralog of this gene is F5.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F8 Gene

Genomics for F8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ155025 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 600.7 -0.7 -717 3.7 ARHGAP35 CREB1 PRDM10 REST ZNF629 IKZF1 ZNF692 POLR2A BACH1 JUND F8 FUNDC2 lnc-F8-1 lnc-F8-2 F8A1 WASH6P PLXNA3 GAB3 IKBKG F8A2
GH0XJ155022 Promoter 1.2 EPDnew Ensembl 600.4 +6.7 6739 6 ATF7 IKZF1 ZNF24 EP300 UBTF HMBOX1 NCOR1 CEBPG TAL1 ATF4 F8 F8A1 TMLHE FUNDC2 lnc-F8-1 lnc-F8-2 HSALNG0140892
GH0XJ154885 Promoter 0.7 EPDnew Ensembl 600.1 +140.2 140239 3.4 F8A1 H2AB1 MIR1184-1 F8 FUNDC2
GH0XJ154726 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 2.3 +293.8 293829 12.7 IKZF1 JUND ZIC2 CTCF SP1 HDAC1 YY1 EGR1 CEBPB ESR1 F8A1 F8A2 DKC1 IKBKG GAB3 EMD F8 DNASE1L1 TKTL1 MPP1
GH0XJ155026 Enhancer 0.5 Ensembl 0.7 +2.0 2039 0.2 IKZF1 MTA2 HMBOX1 ZFP91 DPF2 VEZF1 SMARCE1 FUNDC2 F8 lnc-F8-1 lnc-F8-2 HSALNG0140892 F8A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F8

Top Transcription factor binding sites by QIAGEN in the F8 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • Nkx2-5

Genomic Locations for F8 Gene

Genomic Locations for F8 Gene
chrX:154,835,788-155,026,940
(GRCh38/hg38)
Size:
191,153 bases
Orientation:
Minus strand
chrX:154,064,063-154,255,215
(GRCh37/hg19)
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 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
  • Glycosylation from GlyConnect
    • FA8_HUMAN (99)

Other Protein References for F8 Gene

No data available for DME Specific Peptides for F8 Gene

Domains & Families for F8 Gene

Gene Families for F8 Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for F8 Gene

InterPro:
Blocks:
  • Coagulation factor 5/8 type C domain (FA58C)
  • Multicopper oxidase, type 1
  • Multicopper oxidase, type 2
ProtoNet:

Suggested Antigen Peptide Sequences for F8 Gene

GenScript: Design optimal peptide antigens:
  • Coagulation factor VIII (A0A2G2_HUMAN)
  • Coagulation factor VIII (A0A2G3_HUMAN)
  • Coagulation factor VIII (A0A2G4_HUMAN)
  • Coagulation factor VIII (A0A2G5_HUMAN)
  • Coagulation factor VIII (A0A2G6_HUMAN)

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.
Family:
  • Belongs to the multicopper oxidase family.
genes like me logo Genes that share domains with F8: view

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.

Phenotypes From GWAS Catalog for F8 Gene

Gene Ontology (GO) - Molecular Function for F8 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 F8<tm1Kaz>
  • F8 F8<tm2Kaz>

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F8 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 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 TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with F8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F8 Gene

Pathways & Interactions for F8 Gene

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

Pathways by source for F8 Gene

1 R&D Systems pathway for F8 Gene
2 Qiagen pathways for F8 Gene
  • Blood Coagulation Cascade
  • Intrinsic Prothrombin Activation Pathway

SIGNOR curated interactions for F8 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for F8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006953 acute-phase response IEA --
GO:0007596 blood coagulation TAS 8275087
GO:0007597 blood coagulation, intrinsic pathway TAS --
genes like me logo Genes that share ontologies with F8: view

Drugs & Compounds for F8 Gene

(84) 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 Target, multitarget, inhibitor 0
Thrombin Approved, Investigational Pharma Target, activator 411
Copper Approved, Investigational Pharma Carrier, binder 249
Albutrepenonacog alfa Approved Pharma Enzyme, substrate 0
Anti-inhibitor coagulant complex Approved, Investigational Pharma Target, Enzyme, agonist, substrate 14

(44) 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

mRNA/cDNA for F8 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for F8 Gene

GeneLoc Exon Structure for
F8

Expression for F8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for F8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F8

SOURCE GeneReport for Unigene cluster for F8 Gene:

Hs.632836

Evidence on tissue expression from TISSUES for F8 Gene

  • Nervous system(4.8)
  • Kidney(4.6)
  • Bone marrow(4.4)
  • Blood(3.5)
  • Heart(3.4)
  • Muscle(2.9)
  • Liver(2.9)
  • Spleen(2.7)
  • Skin(2.5)
  • Lung(2.3)
  • Lymph node(2.1)
  • Intestine(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with F8: view

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 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia F8 30 31
  • 85.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia F8 30 31
  • 84.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia F8 30 17 31
  • 82.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia F8 30
  • 65.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia F8 31
  • 51 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia F8 31
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves F8 31
  • 46 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia F8 31
  • 40 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii f8 31
  • 31 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2640 31
  • 33 (a)
OneToMany
Species where no ortholog for F8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for F8: view image

Paralogs for F8 Gene

(11) SIMAP similar genes for F8 Gene using alignment to 52 proteins:

  • FA8_HUMAN
  • A0A2G2_HUMAN
  • A0A2G3_HUMAN
  • A0A2G4_HUMAN
  • A0A2G5_HUMAN
  • A0A2G6_HUMAN
  • A0A2G8_HUMAN
  • A0A2G9_HUMAN
  • A0FJ18_HUMAN
  • A0FJ19_HUMAN
  • A0FJ20_HUMAN
  • A5JQJ5_HUMAN
  • A5JQJ6_HUMAN
  • A5JQJ7_HUMAN
  • A5JQJ8_HUMAN
  • A5JQJ9_HUMAN
  • A6NAE5_HUMAN
  • A6NAE6_HUMAN
  • A6NAE8_HUMAN
  • A6NAE9_HUMAN
  • A6NAF0_HUMAN
  • A6NAF1_HUMAN
  • A6NAF3_HUMAN
  • B1B0G8_HUMAN
  • B1B0G9_HUMAN
  • D5H408_HUMAN
  • E3VWA2_HUMAN
  • E3VWA3_HUMAN
  • E3VWA4_HUMAN
  • E3VWA5_HUMAN
  • E3VWA6_HUMAN
  • F2WWL4_HUMAN
  • F8UV73_HUMAN
  • G8GEI5_HUMAN
  • Q003U9_HUMAN
  • Q003V0_HUMAN
  • Q003V1_HUMAN
  • Q003V2_HUMAN
  • Q003V3_HUMAN
  • Q003V4_HUMAN
  • Q003V5_HUMAN
  • Q003V6_HUMAN
  • Q003V7_HUMAN
  • Q003V8_HUMAN
  • Q003V9_HUMAN
  • Q003W0_HUMAN
  • Q003W2_HUMAN
  • Q06DL6_HUMAN
  • Q06DL7_HUMAN
  • Q06DL8_HUMAN
  • Q06DL9_HUMAN
  • Q2VF45_HUMAN
genes like me logo Genes that share paralogs with F8: view

Variants for F8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F8 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
503494 Pathogenic: Mild hemophilia A 154,947,224(-) GAAAAAAAAAAAAA/G INTRON_VARIANT
618101 Pathogenic: not provided 154,966,059(-) CTG/C FRAMESHIFT_VARIANT
626933 Pathogenic: Hereditary factor IX deficiency disease 154,863,110(-) T/C MISSENSE_VARIANT
626935 Pathogenic: Hereditary factor IX deficiency disease 154,861,755(-) A/G MISSENSE_VARIANT
626964 Likely Pathogenic: Hereditary factor IX deficiency disease 154,966,623(-) A/AT FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for F8 Gene

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)

Additional Variant Information for F8 Gene

Human Gene Mutation Database (HGMD)
F8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F8

SNP Genotyping and Copy Number Assay Products

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

Disorders for F8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemophilia a
  • factor viii deficiency
factor viii deficiency
  • autosomal hemophilia a
hemophilia b
  • hemb
hemophilia
  • hemophilia a
hemarthrosis
  • haemarthrosis of shoulder joint
- 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.

Additional Disease Information for F8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 … AICE PROFIT Study Group (Journal of thrombosis and haemostasis : JTH 2009) 3 23 41
  2. The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A. (PMID: 18371163) Ma GC … Shen MC (Haemophilia : the official journal of the World Federation of Hemophilia 2008) 3 23 41
  3. [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 CJ … Zheng MC (Zhonghua er ke za zhi = Chinese journal of pediatrics 2007) 3 23 41
  4. Analysing two dinucleotide repeats of FVIII gene in Iranian population. (PMID: 17973851) Rabbani B … Zeinali S (Haemophilia : the official journal of the World Federation of Hemophilia 2007) 3 23 41
  5. Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. (PMID: 16805874) Cai XH … Wang HL (Journal of thrombosis and haemostasis : JTH 2006) 3 4 23

Products for F8 Gene

Sources for F8 Gene