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Aliases for PCSK2 Gene

Aliases for PCSK2 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 2 2 3 5
  • KEX2-Like Endoprotease 2 2 3 4
  • Neuroendocrine Convertase 2 2 3
  • Prohormone Convertase 2 3 4
  • EC 3.4.21.94 4 56
  • NEC 2 3 4
  • NEC2 3 4
  • PC2 3 4
  • Proprotein Convertase 2 4
  • EC 3.4.21 56
  • NEC-2 3
  • SPC2 3

External Ids for PCSK2 Gene

Previous HGNC Symbols for PCSK2 Gene

  • NEC2

Previous GeneCards Identifiers for PCSK2 Gene

  • GC20P017195
  • GC20P017202
  • GC20P017155
  • GC20P017206
  • GC20P017170

Summaries for PCSK2 Gene

Entrez Gene Summary for PCSK2 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 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]

GeneCards Summary for PCSK2 Gene

PCSK2 (Proprotein Convertase Subtilisin/Kexin Type 2) is a Protein Coding gene. Diseases associated with PCSK2 include Hyperproinsulinemia and Wolfram Syndrome. Among its related pathways are Peptide hormone metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include protein complex binding and endopeptidase activity. An important paralog of this gene is PCSK6.

UniProtKB/Swiss-Prot for PCSK2 Gene

  • 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.

Gene Wiki entry for PCSK2 Gene

Additional gene information for PCSK2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCSK2 Gene

Genomics for PCSK2 Gene

GeneHancer (GH) Regulatory Elements for PCSK2 Gene

Promoters and enhancers for PCSK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I017226 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.5 528 0.9 INSM2 KLF17 MZF1 ZNF76 SIN3A ZNF335 GLIS2 ZNF143 ATF7 SP3 PCSK2 GC20P017279
GH20I017227 Enhancer 0.6 ENCODE 550.8 +1.7 1684 0.2 MXI1 MAX SIN3A MNT REST ZNF366 ZNF143 EZH2 PCSK2 GC20P017279
GH20I017282 Enhancer 0.2 ENCODE 18.2 +56.6 56559 0.9 PCSK2 GC20P017279 LOC105372546
GH20I017504 Enhancer 1.3 FANTOM5 Ensembl ENCODE 2.4 +279.9 279896 3.2 ARID4B SIN3A DMAP1 ZNF48 TCF12 ZNF143 FOS MXD4 REST ATF4 RRBP1 PCSK2 RPS27AP2 PIR60545 BFSP1
GH20I017421 Enhancer 0.4 FANTOM5 6.6 +195.9 195874 0.4 FOSL1 GATA3 FOS PCSK2 BANF2 DYNLT3P1 LOC105372546
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCSK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCSK2 gene promoter:

Genomic Locations for PCSK2 Gene

Genomic Locations for PCSK2 Gene
chr20:17,226,107-17,484,578
(GRCh38/hg38)
Size:
258,472 bases
Orientation:
Plus strand
chr20:17,206,752-17,465,223
(GRCh37/hg19)

Genomic View for PCSK2 Gene

Genes around PCSK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCSK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCSK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK2 Gene

Proteins for PCSK2 Gene

  • Protein details for PCSK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16519-NEC2_HUMAN
    Recommended name:
    Neuroendocrine convertase 2
    Protein Accession:
    P16519
    Secondary Accessions:
    • B1ANH9
    • B4DFQ3
    • Q14927
    • Q5JYQ1
    • Q8IWA8
    • Q9NQG3
    • Q9NUG1
    • Q9UJC6

    Protein attributes for PCSK2 Gene

    Size:
    638 amino acids
    Molecular mass:
    70565 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA21069.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB89428.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB96732.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PCSK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCSK2 Gene

Selected DME Specific Peptides for PCSK2 Gene

P16519:
  • TVNATRRGDLNINMTSPMGTKSILLSRRPR
  • LTWRDMQHL
  • VLTLTTDACEGKENFVRYLEHVQAV
  • LFCVMVFASAERPVFTNHFLVELH
  • HGTRCAGE
  • SKVAGIR
  • GYTGKGV
  • RKKRGYRDINEIDIN
  • GTSAAAP
  • TGKLVLTL
  • SWGPTDNGK
  • TISINSA
  • KVGFDKWPFMTTHTWGEDARGTW
  • ARQVAAEHGFGVRKLPFAEGLYHFYHNGLAKA
  • CGVGVAY
  • YTGKGVTIG
  • KGRGGKGSI
  • ALQQEGF

Post-translational modifications for PCSK2 Gene

  • Glycosylation at Asn375, Asn514, and isoforms=2, 3524

Other Protein References for PCSK2 Gene

Antibody Products

  • R&D Systems Antibodies for PCSK2 (Proprotein Convertase 2/PCSK2)
  • Cell Signaling Technology (CST) Antibodies for PCSK2 (PCSK2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCSK2

Domains & Families for PCSK2 Gene

Gene Families for PCSK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P16519

UniProtKB/Swiss-Prot:

NEC2_HUMAN :
  • Belongs to the peptidase S8 family. Furin subfamily.
Family:
  • Belongs to the peptidase S8 family. Furin subfamily.
genes like me logo Genes that share domains with PCSK2: view

Function for PCSK2 Gene

Molecular function for PCSK2 Gene

GENATLAS Biochemistry:
proprotein convertase subtilisin,kexin like 2,primarily expressed in tissues and cells containing secretory granules
UniProtKB/Swiss-Prot CatalyticActivity:
Release of protein hormones and neuropeptides from their precursors, generally by hydrolysis of -Lys-Arg- - bonds.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for PCSK2 Gene

Phenotypes From GWAS Catalog for PCSK2 Gene

Gene Ontology (GO) - Molecular Function for PCSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS,IDA --
GO:0005515 protein binding IPI 7913882
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PCSK2: view
genes like me logo Genes that share phenotypes with PCSK2: view

Animal Models for PCSK2 Gene

MGI Knock Outs for PCSK2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCSK2 Gene

Localization for PCSK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK2 Gene

Cytoplasmic vesicle, secretory vesicle. Secreted. Note=Localized in the secretion granules.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCSK2 gene
Compartment Confidence
extracellular 5
nucleus 5
golgi apparatus 2
plasma membrane 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 9020868
GO:0005634 nucleus IDA --
GO:0016020 membrane IDA 8034613
GO:0030133 transport vesicle IEA --
GO:0030141 secretory granule IEA --
genes like me logo Genes that share ontologies with PCSK2: view

Pathways & Interactions for PCSK2 Gene

genes like me logo Genes that share pathways with PCSK2: view

Pathways by source for PCSK2 Gene

1 Cell Signaling Technology pathway for PCSK2 Gene

Gene Ontology (GO) - Biological Process for PCSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA 7626024
GO:0007399 nervous system development IEA --
GO:0016485 protein processing IEA --
GO:0016486 peptide hormone processing IDA 28719828
GO:0016540 protein autoprocessing IEA --
genes like me logo Genes that share ontologies with PCSK2: view

No data available for SIGNOR curated interactions for PCSK2 Gene

Drugs & Compounds for PCSK2 Gene

(16) Drugs for PCSK2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Insulin Human Approved, Investigational Pharma Target 0
Insulin Pork Approved Pharma Target 0

(12) Additional Compounds for PCSK2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PCSK2: view

Transcripts for PCSK2 Gene

Unigene Clusters for PCSK2 Gene

Proprotein convertase subtilisin/kexin type 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCSK2 Gene

No ASD Table

Relevant External Links for PCSK2 Gene

GeneLoc Exon Structure for
PCSK2
ECgene alternative splicing isoforms for
PCSK2

Expression for PCSK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCSK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCSK2 Gene

This gene is overexpressed in Thyroid (x9.0), Brain - Frontal Cortex (BA9) (x5.1), and Brain - Anterior cingulate cortex (BA24) (x5.0).

Protein differential expression in normal tissues from HIPED for PCSK2 Gene

This gene is overexpressed in Adrenal (42.3), Vitreous humor (12.0), and Islet of Langerhans (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCSK2 Gene



Protein tissue co-expression partners for PCSK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCSK2 Gene:

PCSK2

SOURCE GeneReport for Unigene cluster for PCSK2 Gene:

Hs.315186

Evidence on tissue expression from TISSUES for PCSK2 Gene

  • Nervous system(5)
  • Pancreas(4.2)
  • Lung(4.1)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with PCSK2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCSK2 Gene

Orthologs for PCSK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCSK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCSK2 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia PCSK2 33 34
  • 92.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK2 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcsk2 33
  • 90.11 (n)
oppossum
(Monodelphis domestica)
Mammalia PCSK2 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk2 33 16 34
  • 89.59 (n)
cow
(Bos Taurus)
Mammalia PCSK2 33 34
  • 89.18 (n)
chicken
(Gallus gallus)
Aves PCSK2 33 34
  • 79.29 (n)
lizard
(Anolis carolinensis)
Reptilia PCSK2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk2 33
  • 75.18 (n)
Str.12201 33
African clawed frog
(Xenopus laevis)
Amphibia pcsk2-A 33
zebrafish
(Danio rerio)
Actinopterygii pcsk2 33 34
  • 75.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta amon 35 33 34
  • 62.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002176 33
  • 62.91 (n)
worm
(Caenorhabditis elegans)
Secernentea egl-3 35 33 34
  • 59.57 (n)
bli-4 35
  • 43 (a)
aex-5 35
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6212 34
  • 62 (a)
OneToOne
Species where no ortholog for PCSK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCSK2 Gene

ENSEMBL:
Gene Tree for PCSK2 (if available)
TreeFam:
Gene Tree for PCSK2 (if available)

Paralogs for PCSK2 Gene

Paralogs for PCSK2 Gene

(6) SIMAP similar genes for PCSK2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PCSK2: view

Variants for PCSK2 Gene

Sequence variations from dbSNP and Humsavar for PCSK2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs780820865 A colorectal cancer sample 17,465,393(+) G/A/C coding_sequence_variant, missense_variant
rs1000008104 -- 17,376,331(+) C/T intron_variant
rs1000010180 -- 17,246,313(+) G/T intron_variant
rs1000039398 -- 17,255,135(+) C/T intron_variant
rs1000046495 -- 17,448,616(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCSK2 Gene

Variant ID Type Subtype PubMed ID
nsv520899 CNV loss 19592680
nsv517986 CNV loss 19592680
nsv3309 CNV insertion 18451855
nsv3308 CNV insertion 18451855
nsv179945 CNV deletion 16902084
nsv1138925 CNV deletion 24896259
nsv1136509 CNV deletion 24896259
nsv1123458 CNV deletion 24896259
esv3645421 CNV loss 21293372
esv3535 CNV loss 18987735
esv2760670 CNV gain 21179565
esv2758787 CNV loss 17122850
esv2659718 CNV deletion 23128226
esv1992600 CNV deletion 18987734
dgv21e197 CNV deletion 19546169

Variation tolerance for PCSK2 Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 24.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCSK2 Gene

Human Gene Mutation Database (HGMD)
PCSK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCSK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCSK2 Gene

Disorders for PCSK2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PCSK2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperproinsulinemia
  • hpri
wolfram syndrome
  • wfs
myocardial infarction
  • myocardial infarction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PCSK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PCSK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCSK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCSK2 Gene

Publications for PCSK2 Gene

  1. [Analysis of the gene encoding human PC2, a prohormone processing enzyme]. (PMID: 7983775) Ohagi S … Nanjo K (Nihon rinsho. Japanese journal of clinical medicine 1994) 3 4 22 58
  2. Identification and analysis of the gene encoding human PC2, a prohormone convertase expressed in neuroendocrine tissues. (PMID: 1594602) Ohagi S … Steiner DF (Proceedings of the National Academy of Sciences of the United States of America 1992) 3 4 22 58
  3. Identification of a human insulinoma cDNA encoding a novel mammalian protein structurally related to the yeast dibasic processing protease Kex2. (PMID: 2154467) Smeekens SP … Steiner DF (The Journal of biological chemistry 1990) 3 4 22 58
  4. Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population. (PMID: 28719828) Winters A … Lindberg I (Diabetes research and clinical practice 2017) 3 4 58
  5. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M … Freedman BI (American journal of nephrology 2011) 3 44 58

Products for PCSK2 Gene

Sources for PCSK2 Gene

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