PCSK2 (proprotein convertase subtilisin/kexin type 2)

2007-02-01  

Identity

HGNC
LOCATION
20p12.1
LOCUSID
ALIAS
NEC
FUSION GENES

Other Information

Locus ID:

NCBI: 5126
MIM: 162151
HGNC: 8744
Ensembl: ENSG00000125851

Variants:

dbSNP: 5126
ClinVar: 5126
TCGA: ENSG00000125851
COSMIC: PCSK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125851ENST00000262545P16519
ENSG00000125851ENST00000377899P16519
ENSG00000125851ENST00000536609P16519

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Insulin processingREACTOMER-HSA-264876

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192601412009Genome-wide association study of biochemical traits in Korcula Island, Croatia.30
214376302012Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.18
176181542007Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population.13
176181542007Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population.13
196286762009Production of n-octanoyl-modified ghrelin in cultured cells requires prohormone processing protease and ghrelin O-acyltransferase, as well as n-octanoic acid.13
162931892005Abnormal expression and processing of the proprotein convertases PC1 and PC2 in human colorectal liver metastases.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
180966692008The cell-specific pattern of cholecystokinin peptides in endocrine cells versus neurons is governed by the expression of prohormone convertases 1/3, 2, and 5/6.9
200363652010Association of genetic variants in SEMA3F, CLEC16A, LAMA3, and PCSK2 with myocardial infarction in Japanese individuals.8

Citation

Dessen P

PCSK2 (proprotein convertase subtilisin/kexin type 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46395/pcsk2