F9 (coagulation factor IX)

2016-10-01  

Identity

HGNC
F9
LOCATION
Xq27.1
LOCUSID
2158
ALIAS
F9 p22,FIX,HEMB,P19,PTC,THPH8

Other Information

Locus ID:

NCBI: 2158
MIM: 300746
HGNC: 3551
Ensembl: ENSG00000101981

Variants:

dbSNP: 2158
ClinVar: 2158
TCGA: ENSG00000101981
COSMIC: F9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101981ENST00000218099P00740
ENSG00000101981ENST00000394090P00740

Expression (GTEx)

0
50
100
150
200
250
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
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA28660GGCXGenePathwayassociated

References

Pubmed IDYearTitleCitations
163224692006Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver.149
170480072007Association of warfarin dose with genes involved in its action and metabolism.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
174142172007Signaling and regulation of the platelet glycoprotein Ib-IX-V complex.41
196175762009Coagulation factors IX through XIII and the risk of future venous thrombosis: the Longitudinal Investigation of Thromboembolism Etiology.33
186479572008The heparin-binding exosite of factor IXa is a critical regulator of plasma thrombin generation and venous thrombosis.28
149630352004Formation of factors IXa and Xa by the extrinsic pathway: differential regulation by tissue factor pathway inhibitor and antithrombin III.23
165176112006Residues Tyr253 and Glu255 in strand 3 of beta-sheet C of antithrombin are key determinants of an exosite made accessible by heparin activation to promote rapid inhibition of factors Xa and IXa.22
145322672003Localization of an antithrombin exosite that promotes rapid inhibition of factors Xa and IXa dependent on heparin activation of the serpin.21
203463602010Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.21

Citation

Dessen P

F9 (coagulation factor IX)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56350/f9