F9 (coagulation factor IX)

2016-10-01 Affiliation

Identity

HGNC

LOCATION

Xq27.1

LOCUSID

2158

ALIAS

F9 p22,FIX,HEMB,P19,PTC,THPH8

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000101981	ENST00000218099	P00740
ENSG00000101981	ENST00000394090	P00740

Expression (GTEx)

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

Pathway	Source	External ID
Complement and coagulation cascades	KEGG	ko04610
Complement and coagulation cascades	KEGG	hsa04610
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activation	REACTOME	R-HSA-163841
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins	REACTOME	R-HSA-159854
Gamma-carboxylation of protein precursors	REACTOME	R-HSA-159740
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus	REACTOME	R-HSA-159763
Removal of aminoterminal propeptides from gamma-carboxylated proteins	REACTOME	R-HSA-159782
Hemostasis	REACTOME	R-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)	REACTOME	R-HSA-140877
Extrinsic Pathway of Fibrin Clot Formation	REACTOME	R-HSA-140834
Intrinsic Pathway of Fibrin Clot Formation	REACTOME	R-HSA-140837

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA28660	GGCX	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
36696202	2023	Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.	2
36724452	2023	Factor IXa variants resistant to plasma inhibitors enhance clot formation in vivo.	1
36787808	2023	An updated interactive database for 1692 genetic variants in coagulation factor IX provides detailed insights into hemophilia B.	1
37210691	2023	Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients.	0
37678545	2023	Crippling down factor IX for therapeutic gain.	0
36696202	2023	Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients.	2
36724452	2023	Factor IXa variants resistant to plasma inhibitors enhance clot formation in vivo.	1
36787808	2023	An updated interactive database for 1692 genetic variants in coagulation factor IX provides detailed insights into hemophilia B.	1
37210691	2023	Structural and functional exploration of three newly identified coagulation factor IX mutations in Chinese hemophilia B patients.	0
37678545	2023	Crippling down factor IX for therapeutic gain.	0
34412085	2022	Human coagulation factor IX: a systematic review of its characteristics.	2
34590426	2022	Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.	0
34626083	2022	F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.	6
35184131	2022	Genome wide CRISPR/Cas9 screen identifies the coagulation factor IX (F9) as a regulator of senescence.	11
35246318	2022	Active factor XI is associated with the risk of cardiovascular events in stable coronary artery disease patients.	5

Citation

Dessen P

F9 (coagulation factor IX)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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