• Gene id: 5126

Gene Summary

• Gene Symbol: PCSK2   Gene   UCSC   Ensembl
• Aliases: NEC 2, NEC-2, NEC2, PC2, SPC2
• Gene name: proprotein convertase subtilisin/kexin type 2
• Alternate names: neuroendocrine convertase 2, KEX2-like endoprotease 2, prohormone convertase 2,
• Gene location: 20p12.1 (17226106: 17484577)     Exons: 8     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 162151

SNPs

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

Protein Summary

• Protein general information: P16519  
  • Name: Neuroendocrine convertase 2 (NEC 2) (EC 3.4.21.94) (KEX2 like endoprotease 2) (Prohormone convertase 2) (Proprotein convertase 2) (PC2)
  • Length: 638  
  • Mass: 70565
• Sequence:

  MKGGCVSQWKAAAGFLFCVMVFASAERPVFTNHFLVELHKGGEDKARQVAAEHGFGVRKLPFAEGLYHFYHNGLA
  KAKRRRSLHHKQQLERDPRVKMALQQEGFDRKKRGYRDINEIDINMNDPLFTKQWYLINTGQADGTPGLDLNVAE
  AWELGYTGKGVTIGIMDDGIDYLHPDLASNYNAEASYDFSSNDPYPYPRYTDDWFNSHGTRCAGEVSAAANNNIC
  GVGVAYNSKVAGIRMLDQPFMTDIIEASSISHMPQLIDIYSASWGPTDNGKTVDGPRELTLQAMADGVNKGRGGK
  GSIYVWASGDGGSYDDCNCDGYASSMWTISINSAINDGRTALYDESCSSTLASTFSNGRKRNPEAGVATTDLYGN
  CTLRHSGTSAAAPEAAGVFALALEANLGLTWRDMQHLTVLTSKRNQLHDEVHQWRRNGVGLEFNHLFGYGVLDAG
  AMVKMAKDWKTVPERFHCVGGSVQDPEKIPSTGKLVLTLTTDACEGKENFVRYLEHVQAVITVNATRRGDLNINM
  TSPMGTKSILLSRRPRDDDSKVGFDKWPFMTTHTWGEDARGTWTLELGFVGSAPQKGVLKEWTLMLHGTQSAPYI
  DQVVRDYQSKLAMSKKEELEEELDEAVERSLKSILNKN

• Structural information:
  • Protein Domains: (129..45-)
    (/note="Peptidase-S8)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01240-)
    (461..59-)
    (/note="P/Homo-B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01173"-)
  • Interpro: IPR008979  IPR034182  IPR002884  IPR000209  IPR036852   IPR023827  IPR022398  IPR023828  IPR015500  IPR032815  IPR038466  
  • Prosite: PS51829 PS51892 PS00136 PS00137 PS00138
  • CDD: cd04059
  • STRING: ENSP00000262545
• Other Databases: GeneCards:  PCSK2  Malacards:  PCSK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0016485	protein processing	IBA	biological process
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0016486	peptide hormone processing	IDA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0016486	peptide hormone processing	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0034230	enkephalin processing	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043204	perikaryon	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016486	peptide hormone processing	IEA	biological process
GO:0034231	islet amyloid polypeptide processing	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030141	secretory granule	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0030070	insulin processing	IDA	biological process
GO:0034230	enkephalin processing	ISS	biological process
GO:0034231	islet amyloid polypeptide processing	ISS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030133	transport vesicle	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Myocardial infarction	PMID:20036365
type 2 diabetes mellitus	PMID:7698505
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq