F7 (coagulation factor VII)

2007-02-01  

Identity

HGNC
F7
LOCATION
13q34
LOCUSID
2155
ALIAS
SPCA

Other Information

Locus ID:

NCBI: 2155
MIM: 613878
HGNC: 3544
Ensembl: ENSG00000057593

Variants:

dbSNP: 2155
ClinVar: 2155
TCGA: ENSG00000057593
COSMIC: F7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000057593ENST00000346342P08709
ENSG00000057593ENST00000375581P08709
ENSG00000057593ENST00000444337E9PH36
ENSG00000057593ENST00000541084F5H8B0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
Gamma-carboxylation, transport, and amino-terminal cleavage of proteinsREACTOMER-HSA-159854
Gamma-carboxylation of protein precursorsREACTOMER-HSA-159740
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatusREACTOMER-HSA-159763
Removal of aminoterminal propeptides from gamma-carboxylated proteinsREACTOMER-HSA-159782
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Extrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140834
Circadian ClockREACTOMER-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expressionREACTOMER-HSA-1368108

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA28660GGCXGenePathwayassociated

References

Pubmed IDYearTitleCitations
383355672024Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.0
389269802024[Congenital FⅦ Deficiency Associated with a Novel Mutation in F7 Gene].0
389269812024[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].0
383355672024Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.0
389269802024[Congenital FⅦ Deficiency Associated with a Novel Mutation in F7 Gene].0
389269812024[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].0
367198112023Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients.1
369513602023Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.1
370424852023Factor VII deficiency: A cause of (or risk factor for) bleeding?0
379933742023Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.0
367198112023Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients.1
369513602023Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.1
370424852023Factor VII deficiency: A cause of (or risk factor for) bleeding?0
379933742023Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.0
344695112022Factor VIIa suppresses inflammation and barrier disruption through the release of EEVs and transfer of microRNA 10a.10

Citation

Dessen P

F7 (coagulation factor VII)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46526