• Gene id: 26577

Gene Summary

• Gene Symbol: PCOLCE2   Gene   UCSC   Ensembl
• Aliases: PCPE2
• Gene name: procollagen C-endopeptidase enhancer 2
• Alternate names: procollagen C-endopeptidase enhancer 2, procollagen C-proteinase enhancer 2, procollagen COOH-terminal proteinase enhancer 2,
• Gene location: 3q23 (142889082: 142817873)     Exons: 9     NC_000003.12
• OMIM: 610856

Protein Summary

• Protein general information: Q9UKZ9  
  • Name: Procollagen C endopeptidase enhancer 2 (Procollagen COOH terminal proteinase enhancer 2) (PCPE 2) (Procollagen C proteinase enhancer 2)
  • Length: 415  
  • Mass: 45717
  • Tissue specificity: Highly expressed in the heart, trabecular meshwork, pituitary gland, bladder, mammary gland, trachea and placenta and weakly expressed in the brain. Expressed in cartilage. {ECO
• Sequence:

  MRGANAWAPLCLLLAAATQLSRQQSPERPVFTCGGILTGESGFIGSEGFPGVYPPNSKCTWKITVPEGKVVVLNF
  RFIDLESDNLCRYDFVDVYNGHANGQRIGRFCGTFRPGALVSSGNKMMVQMISDANTAGNGFMAMFSAAEPNERG
  DQYCGGLLDRPSGSFKTPNWPDRDYPAGVTCVWHIVAPKNQLIELKFEKFDVERDNYCRYDYVAVFNGGEVNDAR
  RIGKYCGDSPPAPIVSERNELLIQFLSDLSLTADGFIGHYIFRPKKLPTTTEQPVTTTFPVTTGLKPTVALCQQK
  CRRTGTLEGNYCSSDFVLAGTVITTITRDGSLHATVSIINIYKEGNLAIQQAGKNMSARLTVVCKQCPLLRRGLN
  YIIMGQVGEDGRGKIMPNSFIMMFKTKNQKLLDALKNKQC

• Structural information:
  • Protein Domains: (33..14-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (154..26-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (297..41-)
    (/note="NTR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00295"-)
  • Interpro: IPR000859  IPR001134  IPR018933  IPR035814  IPR035914   IPR008993  
  • Prosite: PS01180 PS50189
  • CDD: cd00041 cd03576
  • STRING: ENSP00000295992
• Other Databases: GeneCards:  PCOLCE2  Malacards:  PCOLCE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0016504	peptidase activator activity	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0010952	positive regulation of peptidase activity	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq