• Gene id: 23759

Gene Summary

• Gene Symbol: PPIL2   Gene   UCSC   Ensembl
• Aliases: CYC4, CYP60, Cyp-60, UBOX7, hCyP-60
• Gene name: peptidylprolyl isomerase like 2
• Alternate names: RING-type E3 ubiquitin-protein ligase PPIL2, PPIase, RING-type E3 ubiquitin transferase isomerase-like 2, U-box domain containing 7, cyclophilin, 60kDa, cyclophilin-60, cyclophilin-like protein CyP-60, peptidyl-prolyl cis-trans isomerase-like 2, peptidylprolyl ci,
• Gene location: 22q11.21 (21665983: 21700014)     Exons: 24     NC_000022.11
• Gene summary(Entrez): This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1
• OMIM: 612770

Protein Summary

• Protein general information: Q13356  
  • Name: RING type E3 ubiquitin protein ligase PPIL2 (EC 2.3.2.27) (CYC4) (Cyclophilin 60) (Cyclophilin like protein Cyp 60) (Cyp60) (hCyP 60) (Probable inactive peptidyl prolyl cis trans isomerase like 2) (PPIase) (Rotamase PPIL2)
  • Length: 520  
  • Mass: 58823
  • Tissue specificity: Highest expression in thymus, pancreas and testis. Also detected in heart, placenta, lung, liver, skeletal muscle, kidney, spleen, prostate, ovary, small intestine and colon. Poorly detected in brain and leukocytes. Strong protein expr
• Sequence:

  MGKRQHQKDKMYITCAEYTHFYGGKKPDLPQTNFRRLPFDHCSLSLQPFVYPVCTPDGIVFDLLNIVPWLKKYGT
  NPSNGEKLDGRSLIKLNFSKNSEGKYHCPVLFTVFTNNTHIVAVRTTGNVYAYEAVEQLNIKAKNFRDLLTDEPF
  SRQDIITLQDPTNLDKFNVSNFYHVKNNMKIIDPDEEKAKQDPSYYLKNTNAETRETLQELYKEFKGDEILAATM
  KAPEKKKVDKLNAAHYSTGKVSASFTSTAMVPETTHEAAAIDEDVLRYQFVKKKGYVRLHTNKGDLNLELHCDLT
  PKTCENFIRLCKKHYYDGTIFHRSIRNFVIQGGDPTGTGTGGESYWGKPFKDEFRPNLSHTGRGILSMANSGPNS
  NRSQFFITFRSCAYLDKKHTIFGRVVGGFDVLTAMENVESDPKTDRPKEEIRIDATTVFVDPYEEADAQIAQERK
  TQLKVAPETKVKSSQPQAGSQGPQTFRQGVGKYINPAATKRAAEEEPSTSATVPMSKKKPSRGFGDFSSW

• Structural information:
  • Protein Domains: (35..10-)
    (/note="U-box-)
    (278..43-)
    (/note="PPIase-cyclophilin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00156"-)
  • Interpro: IPR029000  IPR020892  IPR002130  IPR003613  IPR013083  
  • Prosite: PS00170 PS50072 PS51698
  • PDB: 1ZKC
  • PDBsum: 1ZKC
  • STRING: ENSP00000334553
• Other Databases: GeneCards:  PPIL2  Malacards:  PPIL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl isomerization	IBA	biological process
GO:0034450	ubiquitin-ubiquitin ligase activity	IBA	molecular function
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016018	cyclosporin A binding	IDA	NOT|molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	NOT|molecular function
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006457	protein folding	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0034450	ubiquitin-ubiquitin ligase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0005796	Golgi lumen	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005634	nucleus	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq