PCSK2 - proprotein convertase subtilisin/kexin type 2 Gene

Also Known as PC2; NEC2; SPC2; NEC 2; NEC-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5126

About PCSK2

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:17,226,107-17,484,578 (from NCBI)

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Referencias 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 Referencias 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 Referencias Source
located in extracellular space IDA
IDA: Inferred from direct assay
9020868 GOA
located in membrane IDA
IDA: Inferred from direct assay
8034613 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCSK2 Protein Structure

Peptidase_S8

Peptidase_S8: Subtilase family (162 - 453)

P_proprotein

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

  • KEX2-like endoprotease 2

Related Diseases

Diseases Alias
Mahvash Disease

  • Gcgr-Related Hyperglucagonemia

  • MVAH

  • Alpha-Cell Hyperplasia With Glucagonemia

  • Nesidioblastosis, Alpha Cell Hyperplasia, Microglucagonoma, And Nonfunctioning Islet Cell Tumor

  • Nesidioblastosis Alpha Cell Hyperplasia Microglucagonoma And Nonfunctioning Islet Cell Tumor
Insulinoma

  • Islet Cell Adenoma

  • Insulin-Producing Tumor Of Islet Cells

  • Adenoma Islet Cell

  • Islet Cell Tumor

  • Experimental Organism Islet Cell Adenoma Neoplasm
Wolfram Syndrome

  • Didmoad Syndrome

  • Didmoad

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Wfs

  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

  • Didmoadud

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Pituitary Adenoma

  • Adenoma Of The Pituitary Gland

  • Pituitary Adenomas

  • Adenoma, Pituitary

  • Pituitary Gland Adenoma

  • Pituitary Neoplasms
Myocardial Infarction

  • Heart Attack

  • Myocardial Infarction, Susceptibility To

  • Myocardial Infarction 1

  • Myocardial Infarction, Protection Against

  • Myocardial Infarction, Decreased Susceptibility To

  • Myocardial Infarction, Decreased

  • Myocardial Infarct

  • MCI1

  • Premature Myocardial Infarction

  • Myocardial Infarction, Susceptibility To, Type 1
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases
Polycystic Kidney Disease

  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant
Pheochromocytoma

  • Pheochromocytoma, Susceptibility To

  • Phaeochromocytoma

  • Adrenal Gland Chromaffin Paraganglioma

  • Adrenal Gland Chromaffinoma

  • Adrenal Gland Paraganglioma

  • Adrenal Gland Pheochromocytoma

  • Chromaffin Paraganglioma Of The Adrenal Gland

  • Intraadrenal Paraganglioma

  • PCC

  • Chromaffin Cell Tumor

  • Medullary Chromaffinoma

  • Medullary Paraganglioma

  • Pheochromoblastoma

  • Pheochromocytomas

  • Chromaffin Cell Neoplasm

  • Pheochromocytoma, Malignant
Spherocytosis, Type 1

  • Hereditary Spherocytosis Type 1

  • SPH1

  • Hs1

  • Spherocytosis, Hereditary, 1

  • Sph

  • Hs

  • Hereditary Spherocytosis 1

  • Spherocytosis 1
Spherocytosis, Type 2

  • Hereditary Spherocytosis Type 2

  • SPH2

  • Spherocytosis, Hereditary, 2

  • Hs2

  • Hereditary Spherocytosis 2

  • Spherocytosis 2

  • Spherocytosis, Type 2, Autosomal Dominant
Ewing Sarcoma

  • Neuroepithelioma

  • Ewing'S Tumor

  • Primitive Neuroectodermal Tumor

  • Ewings Sarcoma

  • Ewing'S Sarcoma

  • Peripheral Neuroepithelioma

  • ES

  • Ewings Sarcoma-Primitive Neuroectodermal Tumor

  • Localized Peripheral Primitive Neuroectodermal Tumor

  • Peripheral Primitive Neuroectodermal Tumor

  • Ewing Tumor

  • Sarcoma, Ewing'S

  • Ewing Family Of Tumors

  • Extraosseous Ewing Tumor

  • Askin Tumor

  • Ewing'S Family Localized Tumor

  • Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing Sarcoma

  • Localized Ewing'S Sarcoma

  • Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

  • Localized Ewing'S Tumor

  • Pnet Of Thoracopulmonary Region

  • Tumor Of The Ewing Family

  • Skeletal Ewing Sarcoma

  • Osseous Ewing Sarcoma

  • Ppnet

  • Peripheral Pnet

  • Extraskeletal Ewing Sarcoma

  • Eoe

  • Extraosseous Ewing Sarcoma

  • Extraskeletal Ewing Tumor

  • Esft

  • Ewing Sarcoma Family Of Tumors

  • Pne

  • Pnet

  • Pnet Of The Chest Wall

  • Sarcoma, Ewing

  • Neuroectodermal Tumors, Primitive, Peripheral

  • Neuroectodermal Tumor, Primitive

  • Disorder Of Eye

  • Askin'S Tumor

  • Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

  • Neuroepithelioma, Peripheral
Huntington Disease

  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea
Type 2 Diabetes Mellitus

  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes
Body Mass Index Quantitative Trait Locus 11

  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS10172 PCSK2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21016 Pcsk2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27533 Pcsk2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

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