PCSK7 (proprotein convertase subtilisin/kexin type 7)

2003-02-01  

Identity

HGNC
PCSK7
LOCATION
11q23.3
LOCUSID
9159
ALIAS
LPC,PC7,PC8,SPC7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9159
MIM: 604872
HGNC: 8748
Ensembl: ENSG00000160613

Variants:

dbSNP: 9159
ClinVar: 9159
TCGA: ENSG00000160613
COSMIC: PCSK7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160613ENST00000320934Q16549
ENSG00000160613ENST00000524507E9PIW7
ENSG00000160613ENST00000525027E9PMC0
ENSG00000160613ENST00000530269E9PLM0
ENSG00000160613ENST00000532301A0A1B0GX40
ENSG00000160613ENST00000540028Q6PK65

Expression (GTEx)

0
10
20
30
40
50
60
70
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

References

Pubmed IDYearTitleCitations
373928382024Dysregulation of the LPC-ATX-LPA axis in autoimmune hepatitis is associated with monocyte activation.1
373928382024Dysregulation of the LPC-ATX-LPA axis in autoimmune hepatitis is associated with monocyte activation.1
331181842021Network Medicine Approach in Prevention and Personalized Treatment of Dyslipidemias.5
335656432021Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.3
342077612021The rs508487, rs236911, and rs236918 Genetic Variants of the Proprotein Convertase Subtilisin-Kexin Type 7 (PCSK7) Gene Are Associated with Acute Coronary Syndrome and with Plasma Concentrations of HDL-Cholesterol and Triglycerides.5
348760182021Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.2
331181842021Network Medicine Approach in Prevention and Personalized Treatment of Dyslipidemias.5
335656432021Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.3
342077612021The rs508487, rs236911, and rs236918 Genetic Variants of the Proprotein Convertase Subtilisin-Kexin Type 7 (PCSK7) Gene Are Associated with Acute Coronary Syndrome and with Plasma Concentrations of HDL-Cholesterol and Triglycerides.5
348760182021Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.2
319152452020The motif EXEXXXL in the cytosolic tail of the secretory human proprotein convertase PC7 regulates its trafficking and cleavage activity.4
319452592020Proprotein convertase 7 (PCSK7) reduces apoA-V levels.12
319152452020The motif EXEXXXL in the cytosolic tail of the secretory human proprotein convertase PC7 regulates its trafficking and cleavage activity.4
319452592020Proprotein convertase 7 (PCSK7) reduces apoA-V levels.12
309180652019PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients.26

Citation

Dessen P

PCSK7 (proprotein convertase subtilisin/kexin type 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41672/pcsk7