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F5 Gene Detail
Summary
  • Symbol
    F5
  • Name
    coagulation factor V
  • Synonyms
    Cf5, Cf-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:88382
    NCBI Gene: 14067
  • Gene Overview
    MyGene.info: F5
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:164151838-164220277 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 71.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    718 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88382
protein coding gene Chr1:164151835-164220277 (.)
129S1/SvImJ MGP_129S1SvImJ_G0016680
protein coding gene Chr1:169578582-169652606 (+)
A/J MGP_AJ_G0016661
protein coding gene Chr1:162662677-162731477 (+)
AKR/J MGP_AKRJ_G0016627
protein coding gene Chr1:167599614-167668188 (+)
BALB/cJ MGP_BALBcJ_G0016622
protein coding gene Chr1:163162940-163232372 (+)
C3H/HeJ MGP_C3HHeJ_G0016446
protein coding gene Chr1:167789990-167861045 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017083
protein coding gene Chr1:175270226-175349395 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014792
protein coding gene Chr1:154647283-154716315 (+)
CAST/EiJ MGP_CASTEiJ_G0016026
protein coding gene Chr1:167422010-167493196 (+)
CBA/J MGP_CBAJ_G0016421
protein coding gene Chr1:181514023-181593560 (+)
DBA/2J MGP_DBA2J_G0016527
protein coding gene Chr1:161558430-161629190 (+)
FVB/NJ MGP_FVBNJ_G0016525
protein coding gene Chr1:160008855-160078196 (+)
LP/J MGP_LPJ_G0016598
protein coding gene Chr1:170649161-170743212 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016550
protein coding gene Chr1:189019701-189089742 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017119
protein coding gene Chr1:167431067-167502004 (+)
PWK/PhJ MGP_PWKPhJ_G0015812
protein coding gene Chr1:160746892-160819170 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015599
protein coding gene Chr1:166303036-166383779 (+)
WSB/EiJ MGP_WSBEiJ_G0016088
protein coding gene Chr1:167590969-167663020 (+)



Homology
more
  • Human Ortholog
    F5, coagulation factor V
  • Vertebrate Orthologs
    10
  • Human Ortholog
    F5, coagulation factor V
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FVL, PCCF, RPRGL1, THPH2
  • Links
    NCBI Gene ID: 2153
    neXtProt AC: NX_P12259
    UniProt: P12259

  • Chr Location
    1q24.2; chr1:169511954-169586632 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human F5 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 4 genetic backgrounds
    13 phenotypes from multigenic genotypes
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026579 Ensembl Gene Model | MGI Sequence Detail 68440 C57BL/6J ±  kb
    transcript ENSMUST00000086040 Ensembl | MGI Sequence Detail 7430 Not Applicable  
    polypeptide ENSMUSP00000083204 Ensembl | MGI Sequence Detail 2183 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • InterPro Domains
      IPR000421 Coagulation factor 5/8 C-terminal domain
      IPR024715 Coagulation factor 5/8-like
      IPR008972 Cupredoxin
      IPR008979 Galactose-binding-like domain superfamily
      IPR033138 Multicopper oxidases, conserved site
      IPR011707 Multicopper oxidase, type 3
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 2
      cDNA 47
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1948, MGD-MRK-1954, MGI:2138166
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 24
    • Earliest
      J:9416 Dahlback B, et al., Assignment of gene for coagulation factor V to chromosome 1 in man and to chromosome 13 in rat. Somat Cell Mol Genet. 1988 Sep;14(5):509-14
    • Latest
      J:266160 Tomberg K, et al., Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse. PLoS Genet. 2018 Sep;14(9):e1007658

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory