help  | about  | cite  | software

Gene : F8 Homo sapiens

Name  ? coagulation factor VIII Cytological Location  Xq28
Brief Description  coagulation factor VIII
Description  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]
  • synonyms:
  • F8C,
  • hemophilia A,
  • HGNC:3546,
  • Factor VIIIF8B,
  • uc004fmt.4,
  • FVIII,
  • F8,
  • HEMA,
  • M90707,
  • F8C,
  • OTTHUMG00000022688,
  • F8B,
  • AHF,
  • HEMA,
  • DXS1253E,
  • NM_000132,
  • coagulation factor VIII, procoagulant component,
  • FVIII,
  • DXS1253E
  • identifiers:
  • 2157,
  • ENSG00000185010,
  • F8

Genome feature

Region: gene ? Length: 186936  
Location: X:154835788-155022723 reverse strand Cyto location: Xq28


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results