Human

Human Kidney Gene DataBase

Name coagulation factor V (proaccelerin, labile factor)
Symbol F5
Aliases FVL; PCCF; labile factor; factor V Leiden
Gene Product
  • coagulation factor V precursor
Category
UniGene Hs.30054 
Reference Sequence
mRNA: NM_000130 Protein: NP_000121
OMIM and SNP
OMIM: 227400 SNP: NCBI SNP
Locus
LocusLink: 2153Chromosome: 1Cytoband: 1q23 UCSC Genome Map Eesembl Genome Map
SummaryThis gene encodes coagulation factor V which is an essential factor 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 active factor V 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.
Gene Ontology
Expression
EST (129 ESTs, 47 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 1 out of  759 libraries express this gene (0.13%)Average CPM:6.74
cartilageBreadth of expression: 1 out of  16 libraries express this gene (6.25%)Average CPM:14.68
colonBreadth of expression: 1 out of  930 libraries express this gene (0.11%)Average CPM:90.14
heartBreadth of expression: 1 out of  26 libraries express this gene (3.85%)Average CPM:3.17
kidneyBreadth of expression: 3 out of  145 libraries express this gene (2.07%)Average CPM:6.37
liverBreadth of expression: 4 out of  65 libraries express this gene (6.15%)Average CPM:0.76
lungBreadth of expression: 3 out of  334 libraries express this gene (0.90%)Average CPM:0.85
lymph nodeBreadth of expression: 1 out of  22 libraries express this gene (4.55%)Average CPM:10.27
placentaBreadth of expression: 12 out of  358 libraries express this gene (3.35%)Average CPM:31.97
prostateBreadth of expression: 1 out of  309 libraries express this gene (0.32%)Average CPM:10.23
uncharacterized tissueBreadth of expression: 15 out of  1739 libraries express this gene (0.86%)Average CPM:4.81
whole bodyBreadth of expression: 1 out of  12 libraries express this gene (8.33%)Average CPM:6.48
SAGE (2599118 tags, 47 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 14 out of  30 libraries express this gene (46.67%)Average CPM:20.68
colonBreadth of expression: 3 out of  8 libraries express this gene (37.50%)Average CPM:22.27
eyeBreadth of expression: 2 out of  6 libraries express this gene (33.33%)Average CPM:27.01
liverBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:119.65
lungBreadth of expression: 1 out of  1 libraries express this gene (100.00%)Average CPM:11.22
mammary glandBreadth of expression: 5 out of  20 libraries express this gene (25.00%)Average CPM:46.98
muscleBreadth of expression: 1 out of  2 libraries express this gene (50.00%)Average CPM:18.57
ovaryBreadth of expression: 1 out of  10 libraries express this gene (10.00%)Average CPM:23.56
pancreasBreadth of expression: 2 out of  8 libraries express this gene (25.00%)Average CPM:57.34
prostateBreadth of expression: 2 out of  14 libraries express this gene (14.29%)Average CPM:33.03
skinBreadth of expression: 1 out of  7 libraries express this gene (14.29%)Average CPM:75.42
stomachBreadth of expression: 1 out of  4 libraries express this gene (25.00%)Average CPM:56.79
uncharacterized tissueBreadth of expression: 5 out of  20 libraries express this gene (25.00%)Average CPM:20.66
vascularBreadth of expression: 1 out of  3 libraries express this gene (33.33%)Average CPM:34.48
EvidenceMutation in Nephrotic Syndrome
  • Irish AB The factor V Leiden mutation and risk of renal vein thrombosis in patientswith nephrotic syndrome. Nephrol Dial Transplant 1997 Aug;12(8):1680-3.

Other key publications related to this gene


© 2004, KGDB, All Rights Reserved.
Department of Urology
University of California, San Francisco