PCSK2 - proprotein convertase subtilisin/kexin type 2 Gene
Also Known as PC2; NEC2; SPC2; NEC 2; NEC-2
Species: Homo sapiens
About PCSK2
This gene has 5 transcripts (splice variants), 209 orthologues and 9 paralogues. Biased expression in adrenal (RPKM 14.5), brain (RPKM 10.5) and 9 other tissues.
Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide Hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]
PCSK2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001201528.2 | NP_001188457.1 | neuroendocrine convertase 2 isoform 3 |
| NM_001201529.3 | NP_001188458.1 | neuroendocrine convertase 2 isoform 2 preproprotein |
| NM_002594.5 | NP_002585.2 | neuroendocrine convertase 2 isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
7913882 | GOA |
| enables serine-type endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
7626024 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in insulin processing |
IDA
IDA: Inferred from direct assay
|
7626024 | GOA |
| involved in peptide hormone processing |
IDA
IDA: Inferred from direct assay
|
28719828 | GOA |
| involved in proteolysis |
IDA
IDA: Inferred from direct assay
|
7626024 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
9020868 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
8034613 | GOA |
PCSK2 Protein Structure
Peptidase_S8: Subtilase family (162 - 453)
P_proprotein: Proprotein convertase P-domain (504 - 591)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 638 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neuroendocrine convertase 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mahvash Disease |
|
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| Insulinoma |
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| Wolfram Syndrome |
|
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| Pituitary Adenoma |
|
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| Myocardial Infarction |
|
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| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
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| Polycystic Kidney Disease |
|
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| Pheochromocytoma |
|
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| Spherocytosis, Type 1 |
|
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| Spherocytosis, Type 2 |
|
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| Ewing Sarcoma |
|
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| Huntington Disease |
|
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| Type 2 Diabetes Mellitus |
|
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| Body Mass Index Quantitative Trait Locus 11 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PCSK2 | RGD | RGD:3273 |
| Felis catus | PCSK2 | VGNC | VGNC:68733 |
| Canis familiaris | PCSK2 | VGNC | VGNC:44322 |
| Mus musculus | PCSK2 | MGD | MGI:97512 |
| Bos taurus | PCSK2 | VGNC | VGNC:32648 |
| Macaca mulatta | PCSK2 | VGNC | VGNC:75785 |
| Others | PCSK2 | NCBI |