PCSK9 (proprotein convertase subtilisin/kexin type 9)

2008-07-01  

Identity

HGNC
PCSK9
LOCATION
1p32.3
LOCUSID
255738
ALIAS
FH3,FHCL3,HCHOLA3,LDLCQ1,NARC-1,NARC1,PC9

Other Information

Locus ID:

NCBI: 255738
MIM: 607786
HGNC: 20001
Ensembl: ENSG00000169174

Variants:

dbSNP: 255738
ClinVar: 255738
TCGA: ENSG00000169174
COSMIC: PCSK9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169174ENST00000302118Q8NBP7

Expression (GTEx)

0
5
10
15
20
25
30
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
LDL-mediated lipid transportREACTOMER-HSA-171052
VLDL interactionsREACTOMER-HSA-8855121
VLDLR internalisation and degradationREACTOMER-HSA-8866427

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166114922lomitapideChemicalLabelAnnotationassociated
PA166114942familial hypercholesterolemiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249
PA227LDLRGeneDataAnnotationassociated
PA50APOBGeneDataAnnotationassociated

References

Pubmed IDYearTitleCitations
374200452024Longitudinal variation of serum PCSK9 in ulcerative colitis: association with disease activity, T helper 1/2/17 cells, and clinical response of tumor necrosis factor inhibitor.0
377482072024Role of proprotein convertase subtilisin/kexin type 9 (PCSK9) in diabetic complications.0
379039422024GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal.1
381545462024PCSK9 regulates myofibroblast transformation through the JAK2/STAT3 pathway to regulate fibrosis after myocardial infarction.2
383833732024Proteome-wide mendelian randomization investigates potential associations in heart failure and its etiology: emphasis on PCSK9.0
384025512024PCSK9 increases vulnerability of carotid plaque by promoting mitochondrial dysfunction and apoptosis of vascular smooth muscle cells.1
385324952024Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis.0
385382222024The Impact of PCSK9 Gene Polymorphisms on Ischemic Stroke: A Systematic Review and Meta-Analysis.0
385680542024Association between genetically proxied PCSK9 inhibition and systemic lupus erythematosus risk: A mendelian randomization study.0
387345412024Effect of the PCSK9 R46L genetic variant on plasma insulin and glucose levels, risk of diabetes mellitus and cardiovascular disease: A meta-analysis.0
389728792024Assessment of serum proprotein convertase subtilisin/kexin type 9 in pediatric sepsis syndrome.0
374200452024Longitudinal variation of serum PCSK9 in ulcerative colitis: association with disease activity, T helper 1/2/17 cells, and clinical response of tumor necrosis factor inhibitor.0
377482072024Role of proprotein convertase subtilisin/kexin type 9 (PCSK9) in diabetic complications.0
379039422024GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal.1
381545462024PCSK9 regulates myofibroblast transformation through the JAK2/STAT3 pathway to regulate fibrosis after myocardial infarction.2

Citation

Dessen P

PCSK9 (proprotein convertase subtilisin/kexin type 9)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50178