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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PCSK2
proprotein convertase subtilisin/kexin type 2
Chromosome 20 · 20p12.1
NCBI Gene: 5126Ensembl: ENSG00000125851.11HGNC: HGNC:8744UniProt: P16519
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peptide hormone processingproteolysisinsulin processingmembraneobesityamyotrophic lateral sclerosisdementiacervical carcinoma
✦AI Summary

PCSK2 (proprotein convertase subtilisin/kexin type 2) is a serine endopeptidase that processes prohormone precursors at basic amino acid residue sites, with primary roles in insulin and glucagon biosynthesis 1. The enzyme processes proinsulin into mature insulin and is expressed in pancreatic beta cells where it contributes to insulin secretion 2. PCSK2 is also widely expressed in hypothalamic POMC neurons (84% of hindbrain POMC neurons express PCSK1, PCSK2, or both) where it processes neuropeptide precursors including proenkephalin and POMC, with expression regulated by CREB in response to dietary nutrients 34. The gene is additionally expressed in neuroendocrine tumors of midgut, pulmonary, and pheochromocytoma-paraganglioma origins, serving as a diagnostic marker for primary tumor location 5. Genetic variants in PCSK2 associate with type 2 diabetes and gestational diabetes mellitus susceptibility across multiple populations 167. Polymorphisms including rs2269023 and rs2021785 correlate with altered fasting glucose, insulin levels, HOMA-IR, and impaired proinsulin conversion 167. PCSK2 is expressed throughout human brain regions including the hypothalamus, consistent with neuropeptide production roles 8. This enzyme represents a pleiotropic susceptibility factor affecting glucose homeostasis and energy balance regulation.

Sources cited
1
PCSK2 is a prohormone processing enzyme involved in insulin and glucagon biosynthesis; genetic variants associated with glucose homeostasis parameters and type 2 diabetes progression
PMID: 26607656
2
84% of POMC neurons in hindbrain express PCSK1, PCSK2, or both, implicating these enzymes in melanocortin peptide production
PMID: 33962048
3
PCSK2 (Pcsk2) expression in hypothalamic POMC neurons is regulated by CREB and affected by high-fat diet; critical for α-MSH production and energy balance
PMID: 35805082
4
PCSK2 is expressed in neuroendocrine tumors of midgut, pulmonary, and pheochromocytoma-paraganglioma origins and can serve as an IHC marker for primary tumor location
PMID: 32794589
5
PCSK2 variant rs2269023 associated with GDM risk and impaired insulin processing, with genetic variants contributing to disease susceptibility
PMID: 37610142
6
PCSK2 SNP rs2021785 associated with type 2 diabetes in Han Chinese population, confirming role in diabetes susceptibility
PMID: 21437630
7
PCSK2 expressed throughout human brain regions including hypothalamus at moderate to low levels compared to PCSK1, consistent with neuropeptide production roles
PMID: 29998195
8
PCSK2 gene expression upregulated in pseudoislet formation of human beta cells, contributing to enhanced insulin secretion
PMID: 25559846
Disease Associationsⓘ20
obesityOpen Targets
0.32Weak
amyotrophic lateral sclerosisOpen Targets
0.30Weak
dementiaOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.29Weak
celiac diseaseOpen Targets
0.28Weak
restless legs syndromeOpen Targets
0.27Weak
oropharynx cancerOpen Targets
0.24Weak
insomniaOpen Targets
0.24Weak
neuroinflammatory disorderOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.22Weak
Abruptio PlacentaeOpen Targets
0.21Weak
mouth neoplasmOpen Targets
0.20Weak
type 1 diabetes mellitusOpen Targets
0.19Weak
BlindnessOpen Targets
0.19Weak
jaw diseaseOpen Targets
0.19Weak
placental retentionOpen Targets
0.18Weak
psoriatic arthritisOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.18Weak
Cerebral degenerationOpen Targets
0.18Weak
liver diseaseOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SCG5Protein interaction98%INSProtein interaction89%CPEProtein interaction85%THBDProtein interaction78%GCGProtein interaction76%CHGBProtein interaction74%
Tissue Expression6 tissues
Brain
100%
Ovary
15%
Heart
7%
Bone Marrow
5%
Lung
1%
Liver
0%
Gene Interaction Network
Click a node to explore
PCSK2SCG5INSCPETHBDGCGCHGB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P16519
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.25]
RankingsWhere PCSK2 stands among ~20K protein-coding genes
  • #7,003of 20,598
    Most Researched67
  • #766of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedPCSK2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A survey of the mouse hindbrain in the fed and fasted states using single-nucleus RNA sequencing.
PMID: 33962048
Mol Metab · 2021
1.00
2
Association of common variants of
PMID: 37610142
Nucleosides Nucleotides Nucleic Acids · 2024
0.90
3
Genetic polymorphisms of PCSK2 are associated with glucose homeostasis and progression to type 2 diabetes in a Chinese population.
PMID: 26607656
Sci Rep · 2015
0.80
4
Association of type 2 diabetes susceptibility genes (TCF7L2, SLC30A8, PCSK1 and PCSK2) and proinsulin conversion in a Chinese population.
PMID: 21437630
Mol Biol Rep · 2012
0.70
5
PCSK2 expression in neuroendocrine tumors points to a midgut, pulmonary, or pheochromocytoma-paraganglioma origin.
PMID: 32794589
APMIS · 2020
0.60