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Gene : F5 Homo sapiens

Name  ? coagulation factor V Cytological Location  1q24.2
Brief Description  coagulation factor V
Description  This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
  • synonyms:
  • coagulation factor V (proaccelerin, labile factor),
  • OTTHUMG00000034595,
  • THPH2,
  • NM_000130,
  • HGNC:3542,
  • FVL,
  • RPRGL1,
  • uc001ggg.2,
  • F5,
  • PCCF,
  • M14335
  • identifiers:
  • 2153,
  • ENSG00000198734,
  • F5

Genome feature

Region: gene ? Length: 74680  
Location: 1:169511951-169586630 reverse strand Cyto location: 1q24.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 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

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Interactions

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Expression

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Gene Ontology

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Other

3753 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results