F8 (coagulation factor VIII)

2007-02-01  

Identity

HGNC
F8
LOCATION
Xq28
LOCUSID
2157
ALIAS
AHF,DXS1253E,F8B,F8C,FVIII,HEMA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2157
MIM: 300841
HGNC: 3546
Ensembl: ENSG00000185010

Variants:

dbSNP: 2157
ClinVar: 2157
TCGA: ENSG00000185010
COSMIC: F8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185010ENST00000330287P00451
ENSG00000185010ENST00000360256P00451
ENSG00000185010ENST00000423959B1B0G8
ENSG00000185010ENST00000453950B1B0G9
ENSG00000185010ENST00000644698A0A2R8Y707
ENSG00000185010ENST00000647125A0A2R8Y7J7

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
202315352010Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
168234912006Factor VIII ectopically targeted to platelets is therapeutic in hemophilia A with high-titer inhibitory antibodies.73
184001802008Crystal structure of human factor VIII: implications for the formation of the factor IXa-factor VIIIa complex.73
127174342003Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.69
210417182011Codon optimization of human factor VIII cDNAs leads to high-level expression.63
222825012012F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis.63
215856502011Induction of tolerance to factor VIII by transient co-administration with rapamycin.51
226550632012Transient B cell depletion or improved transgene expression by codon optimization promote tolerance to factor VIII in gene therapy.50
158862092005LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway.46

Citation

Dessen P

F8 (coagulation factor VIII)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45656/f8