Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5126
Gene name Gene Name - the full gene name approved by the HGNC.
Proprotein convertase subtilisin/kexin type 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCSK2
Synonyms (NCBI Gene) Gene synonyms aliases
NEC 2, NEC-2, NEC2, PC2, SPC2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT483164 hsa-miR-4694-3p HITS-CLIP 21572407
MIRT483163 hsa-miR-224-3p HITS-CLIP 21572407
MIRT483162 hsa-miR-522-3p HITS-CLIP 21572407
MIRT483161 hsa-miR-211-3p HITS-CLIP 21572407
MIRT483160 hsa-miR-4270 HITS-CLIP 21572407
Transcription factors
Transcription factor Regulation Reference
EGR1 Activation 9359835
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 7626024
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 7913882, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
162151 8744 ENSG00000125851
Protein
UniProt ID P16519
Protein name Neuroendocrine convertase 2 (NEC 2) (EC 3.4.21.94) (KEX2-like endoprotease 2) (Prohormone convertase 2) (Proprotein convertase 2) (PC2)
Protein function Serine endopeptidase which is involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Responsible for the release of glucagon from proglucagon in pancreatic A cells. {ECO:00002
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16470 S8_pro-domain 33 109 Peptidase S8 pro-domain Domain
PF00082 Peptidase_S8 158 445 Subtilase family Domain
PF01483 P_proprotein 504 591 Proprotein convertase P-domain Family
Sequence
Sequence length 638
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Restless Legs Syndrome Restless legs syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 31319379
Adenoma Associate 7747813
Amish lethal microcephaly Associate 28719828
Amyotrophic Lateral Sclerosis Associate 22470424
Atherosclerosis Associate 17903303
Carcinoid Tumor Stimulate 32794589
Crohn Disease Associate 21383526
Diabetes Mellitus Associate 26607656, 28719828, 29739359
Diabetes Mellitus Type 1 Associate 36201618
Diabetes Mellitus Type 2 Associate 17618154, 24705588, 26607656, 26634513, 28719828, 40141237