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Aliases for PCSK2 Gene

Aliases for PCSK2 Gene

  • Proprotein Convertase Subtilisin/Kexin Type 2 2 3
  • KEX2-Like Endoprotease 2 2 3 4
  • NEC2 3 4 6
  • PC2 3 4 6
  • Neuroendocrine Convertase 2 2 3
  • Prohormone Convertase 2 3 4
  • EC 3.4.21.94 4 64
  • NEC 2 3 4
  • Proprotein Convertase 2 4
  • EC 3.4.21 64
  • NEC-2 3
  • SPC2 3

External Ids for PCSK2 Gene

Previous Symbols for PCSK2 Gene

  • NEC2

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 myocardial infarction and hyperproinsulinemia. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Peptide hormone metabolism. GO annotations related to this gene include serine-type endopeptidase activity and protein complex binding. An important paralog of this gene is PCSK1.

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

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

Genomics for PCSK2 Gene

Genomic Location for PCSK2 Gene

Start:
17,226,107 bp from pter
End:
17,484,578 bp from pter
Size:
258,472 bases
Orientation:
Plus strand

Genomic View for PCSK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCSK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCSK2 Gene

Regulatory Elements 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

Proteomics data for PCSK2 Gene at MOPED

Post-translational modifications for PCSK2 Gene

  • Glycosylation at Asn375, Asn514, and Asn524

Other Protein References for PCSK2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PCSK2 Gene

UniProtKB/Swiss-Prot:

NEC2_HUMAN
Domain:
  • Contains 1 peptidase S8 domain.:
    • P16519
Family:
  • Belongs to the peptidase S8 family. Furin subfamily.:
    • P16519
genes like me logo Genes that share domains with PCSK2: view

No data available for Gene Families for PCSK2 Gene

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

Gene Ontology (GO) - Molecular Function for PCSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity --
GO:0004252 serine-type endopeptidase activity IDA 7626024
GO:0005515 protein binding IPI 7913882
GO:0032403 protein complex binding 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:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for PCSK2 Gene

Localization for PCSK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCSK2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCSK2 Gene COMPARTMENTS Subcellular localization image for PCSK2 gene
Compartment Confidence
extracellular 4
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PCSK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 9020868
GO:0016020 membrane IDA 8034613
GO:0030133 transport vesicle IEA --
GO:0030141 secretory granule --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with PCSK2: view

Pathways for PCSK2 Gene

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

Pathways by source 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 --
GO:0016486 peptide hormone processing --
GO:0016540 protein autoprocessing IEA --
genes like me logo Genes that share ontologies with PCSK2: view

Compounds for PCSK2 Gene

(2) Drugbank Compounds for PCSK2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Insulin Regular
11061-68-0 target
Insulin, porcine
9004-14-2 target

(26) Novoseek inferred chemical compound relationships for PCSK2 Gene

Compound -log(P) Hits PubMed IDs
spc3 88 13
proglucagon 84.1 27
peptidylglycine 78.2 5
prosomatostatin 69.7 5
oxyntomodulin 67 5
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:

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 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 (9.0), Brain - Frontal Cortex (BA9) (5.1), and Brain - Anterior cingulate cortex (BA24) (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PCSK2 Gene

SOURCE GeneReport for Unigene cluster for PCSK2 Gene Hs.315186

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

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 36
  • 99.63 (n)
  • 99.69 (a)
PCSK2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCSK2 36
  • 89.18 (n)
  • 96.08 (a)
PCSK2 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCSK2 36
  • 92.11 (n)
  • 98.43 (a)
PCSK2 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcsk2 36
  • 89.59 (n)
  • 96.86 (a)
Pcsk2 16
Pcsk2 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCSK2 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCSK2 37
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcsk2 36
  • 90.11 (n)
  • 96.39 (a)
chicken
(Gallus gallus)
Aves PCSK2 36
  • 79.29 (n)
  • 90.85 (a)
PCSK2 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCSK2 37
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia pcsk2-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pcsk2 36
  • 75.18 (n)
  • 87.62 (a)
Str.12201 36
zebrafish
(Danio rerio)
Actinopterygii pcsk2 36
  • 75.96 (n)
  • 84.24 (a)
pcsk2 37
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002176 36
  • 62.91 (n)
  • 64.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta amon 36
  • 62.98 (n)
  • 65.25 (a)
amon 37
  • 59 (a)
OneToOne
amon 38
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-3 36
  • 59.57 (n)
  • 63.2 (a)
egl-3 37
  • 57 (a)
OneToOne
bli-4 38
  • 43 (a)
egl-3 38
  • 59 (a)
aex-5 38
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6212 37
  • 62 (a)
OneToOne
Species with no ortholog for PCSK2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs2104 -- 17,406,291(+) ATGGT(C/T)CCTCC intron-variant
rs140731 -- 17,340,301(+) CTAAC(-/TA)TAGCT intron-variant
rs201926 -- 17,411,506(-) tggcc(A/G)ctttt intron-variant
rs201927 -- 17,407,028(-) TGGTC(A/G)GGACA intron-variant
rs718740 -- 17,464,192(+) TGGTC(C/T)GGGAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4554n71 CNV Gain 21882294
nsv179945 CNV Loss 16902084
dgv4555n71 CNV Gain 21882294
nsv912798 CNV Gain 21882294
esv2722247 CNV Deletion 23290073
dgv21e197 CNV Deletion 19546169
esv2722248 CNV Deletion 23290073
dgv1315e1 CNV Complex 17122850
nsv3308 CNV Insertion 18451855
nsv517986 CNV Loss 19592680
nsv520899 CNV Loss 19592680
nsv3309 CNV Insertion 18451855
esv2722249 CNV Deletion 23290073
esv2722252 CNV Deletion 23290073
esv1992600 CNV Deletion 18987734
esv2722253 CNV Deletion 23290073
esv3535 CNV Deletion 18987735
esv2659718 CNV Deletion 23128226

Relevant External Links for PCSK2 Gene

HapMap Linkage Disequilibrium report
PCSK2
Human Gene Mutation Database (HGMD)
PCSK2

Disorders for PCSK2 Gene

(23) Novoseek inferred disease relationships for PCSK2 Gene

Disease -log(P) Hits PubMed IDs
adpkd 73.1 14
neuroepithelioma 62.3 1
insulinoma 56 7
pituitary tumors 51.8 4
polycystic kidney diseases 45.8 3

Relevant External Links for PCSK2

Genetic Association Database (GAD)
PCSK2
Human Genome Epidemiology (HuGE) Navigator
PCSK2
genes like me logo Genes that share disorders with PCSK2: view

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

Publications for PCSK2 Gene

  1. Identification and analysis of the gene encoding human PC2, a prohormone convertase expressed in neuroendocrine tissues. (PMID: 1594602) Ohagi S. … Steiner D.F. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  2. Analysis of the gene encoding human PC2, a prohormone processing enzyme. (PMID: 7983775) Ohagi S. … Nanjo K. (Nippon Rinsho 1994) 3 4 23
  3. Identification of a human insulinoma cDNA encoding a novel mammalian protein structurally related to the yeast dibasic processing protease Kex2. (PMID: 2154467) Smeekens S.P. … Steiner D.F. (J. Biol. Chem. 1990) 3 4 23
  4. Immunohistochemical expressions of prohormone convertase (PC)1/3 and PC2 in carcinoids of various organs. (PMID: 10530621) Kajiwara H. … Osamura R.Y. (Tokai J. Exp. Clin. Med. 1999) 3 23
  5. Mutations within the propeptide, the primary cleavage site or the catalytic site, or deletion of C-terminal sequences, prevents secretion of proPC2 from transfected COS-7 cells. (PMID: 9020868) Taylor N.A. … Docherty K. (Biochem. J. 1997) 3 23

Products for PCSK2 Gene

Sources for PCSK2 Gene

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