PCSK2 - proprotein convertase subtilisin/kexin type 2 Gene

Homo sapiens

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

Gene ID: 5126 | Gene type: protein coding

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

PCSK2 Protein Structure

Peptidase_S8

P_proprotein

0
100
200
300
400
500
600
638 a.a.

Protein Preferred Names

Protein Names

neuroendocrine convertase 2

KEX2-like endoprotease 2

Recombinant PCSK2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79205	Proprotein Convertase 2/PCSK2 Protein, Human (CHO, His)	P16519 (G110-N638)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10172	PCSK2 Human Pre-designed siRNA Set A		/	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

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