Aliases for F8 Gene
Aliases for F8 Gene
External Ids for F8 Gene
- HGNC: 3546
- Entrez Gene: 2157
- Ensembl: ENSG00000185010
- OMIM: 300841
- UniProtKB: P00451
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
-
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 Mild Hemophilia A. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. 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 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.
Additional gene information for F8 Gene
- Monarch Initiative
- Search for F8 at DataMed
- Search for F8 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F8 Gene
Genomics for F8 Gene
GeneHancer (GH) Regulatory Elements for F8 Gene
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 | 2.3 | EPDnew FANTOM5 Ensembl ENCODE | 650.7 | -0.7 | -717 | 3.7 | PKNOX1 FOXA2 ARID4B SIN3A FEZF1 YY1 ZNF766 ZNF207 FOS SP3 | F8 FUNDC2 WASH6P SNORA56 F8A1 SLC10A3 PLXNA3 DKC1 SNORA70 TMLHE-AS1 | |
| GH0XJ155022 | Promoter | 1 | EPDnew | 650.7 | +4.2 | 4197 | 0.1 | TEAD4 TAL1 TCF12 NCOR1 ZFP91 CBFA2T2 MTA2 CBFA2T3 DPF2 EP300 | F8 FUNDC2 LOC100419792 | |
| GH0XJ154885 | Promoter | 1 | EPDnew Ensembl | 650.1 | +140.3 | 140339 | 1.6 | F8A1 MIR1184-1 H2AFB1 F8 | ||
| GH0XJ154723 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 2.3 | +295.5 | 295515 | 16 | FOXA2 ZFP64 IRF4 YY1 ZNF213 FOS RUNX3 RXRA JUNB ZC3H11A | DKC1 SNORA70 HCFC1 SNORA56 F8A1 EMD GAB3 PLXNA3 F8A2 SLC10A3 | |
| GH0XJ155067 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE | 0.3 | -43.3 | -43313 | 4.9 | FOXA2 ARID4B SIN3A GLI4 ZNF2 YY1 POLR2B GLIS2 ZNF213 ELK1 | BRCC3 CMC4 DNASE1L1 F8 MTCP1 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the F8 gene promoter:
-
- GR-alpha
- GR
- GR-beta
- Nkx2-5
Regulatory Element Products
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:
-
- Xq28 by Entrez Gene
- Xq28 by HGNC
- Xq28 by Ensembl
F8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for F8 Gene
Post-translational modifications for F8 Gene
- Sulfation on Tyr-1699 is essential for binding vWF.
- Glycosylation at Asn2137, Asn1829, isoforms=1461, isoforms=1431, isoforms=1319, isoforms=1301, Asn1278, isoforms=1274, isoforms=1204, isoforms=1085, Asn1074, Asn1024, isoforms=1020, isoforms=982, isoforms=962, Asn919, isoforms=847, isoforms=803, Asn776, Asn601, isoforms=258, and isoforms=60
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- FA8_HUMAN (99)
Other Protein References for F8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for F8
- Novus Biologicals Antibodies for F8
-
Abcam antibodies for F8
- Invitrogen Antibodies for F8 (AFLGC-F8)
- antibodies-online: Search results for 342 available F8 Antibodies ranked by validation data
- Compare Top F8 Antibodies
-
Quality Products:
- ABIN2788318
- ABIN449338
- ABIN2704780
- ABIN3042924
- ABIN394620
- ABIN872493
- ABIN668601
- ABIN728000
- ABIN1533268
- ABIN2869360
- ABIN2788318
- ABIN449338
- ABIN2704780
- ABIN3042924
- ABIN394620
- ABIN872493
- ABIN668601
- ABIN728000
- ABIN1533268
- ABIN2869360
- ABIN2788318
- ABIN449338
- ABIN2704780
- ABIN3042924
- ABIN394620
- ABIN872493
- ABIN668601
- ABIN728000
- ABIN1533268
- ABIN2869360
- GeneTex F8 Antibody for F8
-
Santa Cruz Biotechnology (SCBT) Antibodies for F8
- Sino Biological Antibodies for F8
Protein Products
-
OriGene Purified Proteins for F8
- Search Origene for MassSpec and Protein Over-expression Lysates for F8
- Origene Custom Protein Services for F8
- ProSpec Recombinant Proteins for F8
- antibodies-online: Search results for 32 available F8 Proteins ranked by validation data
- Compare Top F8 Proteins
-
Quality Products:
- ABIN3079930
- ABIN3079931
- ABIN1353326
- ABIN1170105
- ABIN2120845
- ABIN2120843
- ABIN2120847
- ABIN4975154
- ABIN4976686
- ABIN806754
- ABIN3079930
- ABIN3079931
- ABIN1353326
- ABIN1170105
- ABIN2120845
- ABIN2120843
- ABIN2120847
- ABIN4975154
- ABIN4976686
- ABIN806754
- ABIN3079930
- ABIN3079931
- ABIN1353326
- ABIN1170105
- ABIN2120845
- ABIN2120843
- ABIN2120847
- ABIN4975154
- ABIN4976686
- ABIN806754
- Search GeneTex for Proteins for F8
-
Abcam proteins for F8
Assay Products
- antibodies-online: Search results for 53 available F8 Elisa Kits ranked by validation data
- Compare Top F8 Elisa Kits
-
Quality Products:
- ABIN424293
- ABIN826512
- ABIN414859
- ABIN5591932
- ABIN1560624
- ABIN1560622
- ABIN1560623
- ABIN1884402
- ABIN1052175
- ABIN1052178
- ABIN424293
- ABIN826512
- ABIN414859
- ABIN5591932
- ABIN1560624
- ABIN1560622
- ABIN1560623
- ABIN1884402
- ABIN1052175
- ABIN1052178
- ABIN424293
- ABIN826512
- ABIN414859
- ABIN5591932
- ABIN1560624
- ABIN1560622
- ABIN1560623
- ABIN1884402
- ABIN1052175
- ABIN1052178
-
Abcam assays for F8
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
Suggested Antigen Peptide Sequences for F8 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P00451UniProtKB/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.
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
| 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 | -- |
Phenotypes for F8 Gene
- MGI mutant phenotypes for F8:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for F8:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for F8
-
CRISPR Products
-
OriGene CRISPR knockouts for F8
- genomics-online: gRNA clones - Search results for 100 available F8 gene related products
- Overview of 100 available F8 gene related products
- Applied Biological Materials CRISPR for F8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for F8
- GenScript: Design CRISPR guide RNA sequences for F8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for F8
- Browse OriGene Inhibitory RNA Products For F8
- genomics-online: shRNA clones - Search results for 100 available F8 gene related products
- Overview of 100 available F8 gene related products
Clone Products
- Addgene plasmids for F8
- Applied Biological Materials Clones for F8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for F8
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for F8 Gene
Pathways & Interactions for F8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Formation of Fibrin Clot (Clotting Cascade) | ||
| 2 | Transport to the Golgi and subsequent modification | ||
| 3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 4 | Complement and coagulation cascades | ||
| 5 | Collagen chain trimerization | ||
Pathways by source for F8 Gene
2 BioSystems pathways for F8 Gene
16 Reactome pathways for F8 Gene
1 KEGG pathway for F8 Gene
1 R&D Systems pathway for F8 Gene
2 Qiagen pathways for F8 Gene
Interacting Proteins for F8 Gene
Selected Interacting proteins:
ENSP00000353393
P00451-FA8_HUMAN
for F8 Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for F8
| 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 | -- |
| GO:0007597 | blood coagulation, intrinsic pathway | TAS | -- |
No data available for SIGNOR curated interactions for F8 Gene
Drugs & Compounds for F8 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Drotrecogin alfa | Approved, Investigational, Withdrawn | Pharma | inhibitor, Target, multitarget | 0 | ||
| Thrombin | Approved, Investigational | Pharma | Target, activator | 332 | ||
| Copper | Approved, Investigational | Pharma | Carrier, binder | 202 | ||
| calcium | Approved | Nutra | 0 | |||
| Albutrepenonacog alfa | Approved | Pharma | Enzyme, substrate | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for F8 Gene
mRNA/cDNA for F8 Gene
- (2) REFSEQ mRNAs :
- (18) Additional mRNA sequences :
- (86) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000330287 2620 bps (uc004fms.4)
- ENST00000360256 9059 bps (uc004fmt.4)
- ENST00000644698 3464 bps
- ENST00000647125 3658 bps
- ENST00000483822 461 bps (uc065cjd.1)
Unigene Clusters for F8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for F8
- genomics-online: gRNA clones - Search results for 100 available F8 gene related products
- Overview of 100 available F8 gene related products
- Applied Biological Materials CRISPR for F8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for F8
- GenScript: Design CRISPR guide RNA sequences for F8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for F8
- Browse OriGene Inhibitory RNA Products For F8
- genomics-online: shRNA clones - Search results for 100 available F8 gene related products
- Overview of 100 available F8 gene related products
Clone Products
- Addgene plasmids for F8
- Applied Biological Materials Clones for F8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for F8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Endothelium (Cardiovascular System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of F8 Gene:
F8SOURCE GeneReport for Unigene cluster for F8 Gene:
Hs.632836Evidence on tissue expression from TISSUES for F8 Gene
- Nervous system(4.8)
- Kidney(4.5)
- Bone marrow(4.4)
- Blood(3.5)
- Heart(3.1)
- Liver(2.4)
- Spleen(2.4)
- Muscle(2.3)
- Lung(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
Primer Products
-
OriGene qPCR primer pairs for F8
-
OriGene qPCR primer pairs and template standards for F8
- genomics-online: primer clones - Search results for 100 available F8 gene related products
- Overview of 100 available F8 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | F8 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | F8 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | F8 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | F8 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | F8 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | F8 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | F8 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | F8 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | F8 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | f8 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2640 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for F8: view image
Paralogs for F8 Gene
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
Variants for F8 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1050705 | benign, Hemophilia A, FVIII Deficiency | 154,835,925(-) | C/T | 3_prime_UTR_variant | |
| rs1057515824 | uncertain-significance, Hemophilia A, FVIII Deficiency | 154,836,735(-) | T/C | 3_prime_UTR_variant | |
| rs1057515825 | uncertain-significance, Hemophilia A, FVIII Deficiency | 154,837,176(-) | GAGAG/GAG | 3_prime_UTR_variant | |
| rs1057515826 | uncertain-significance, Hemophilia A, FVIII Deficiency | 155,022,709(-) | T/C | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
| rs1060499784 | likely-pathogenic, Hereditary factor VIII deficiency disease | 154,930,646(-) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, stop_gained |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F8 Gene
Disorders for F8 Gene
(68) MalaCards diseases for F8 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hemophilia a |
|
|
| mild hemophilia a |
|
|
| severe hemophilia a |
|
|
| moderately severe hemophilia a |
|
|
| symptomatic form of hemophilia a in female carriers |
|
|
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
No data available for Genatlas for F8 Gene
Publications for F8 Gene
- 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 22 44 58
- 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 22 44 58
- 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 22 44 58
- [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 22 44 58
- 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 22 58
Products for F8 Gene
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Sources for F8 Gene
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