• Gene id: 7512

Gene Summary

• Gene Symbol: XPNPEP2   Gene   UCSC   Ensembl
• Aliases: AEACEI, APP2
• Gene name: X-prolyl aminopeptidase 2
• Alternate names: xaa-Pro aminopeptidase 2, X-Pro aminopeptidase 2, X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound, aminoacylproline aminopeptidase, mAmP, membrane-bound APP, membrane-bound AmP, membrane-bound aminopeptidase P,
• Gene location: Xq26.1 (129738978: 129769535)     Exons: 21     NC_000023.11
• Gene summary(Entrez): Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occ
• OMIM: 300145

Protein Summary

• Protein general information: O43895  
  • Name: Xaa Pro aminopeptidase 2 (EC 3.4.11.9) (Aminoacylproline aminopeptidase) (Membrane bound aminopeptidase P) (Membrane bound APP) (Membrane bound AmP) (mAmP) (X Pro aminopeptidase 2)
  • Length: 674  
  • Mass: 75625
  • Tissue specificity: Expressed in kidney, lung, heart, placenta, liver, small intestine and colon. No expression in brain, skeletal muscle, pancreas, spleen, thymus, prostate, testis and ovary. {ECO
• Sequence:

  MARAHWGCCPWLVLLCACAWGHTKPVDLGGQDVRNCSTNPPYLPVTVVNTTMSLTALRQQMQTQNLSAYIIPGTD
  AHMNEYIGQHDERRAWITGFTGSAGTAVVTMKKAAVWTDSRYWTQAERQMDCNWELHKEVGTTPIVTWLLTEIPA
  GGRVGFDPFLLSIDTWESYDLALQGSNRQLVSITTNLVDLVWGSERPPVPNQPIYALQEAFTGSTWQEKVSGVRS
  QMQKHQKVPTAVLLSALEETAWLFNLRASDIPYNPFFYSYTLLTDSSIRLFANKSRFSSETLSYLNSSCTGPMCV
  QIEDYSQVRDSIQAYSLGDVRIWIGTSYTMYGIYEMIPKEKLVTDTYSPVMMTKAVKNSKEQALLKASHVRDAVA
  VIRYLVWLEKNVPKGTVDEFSGAEIVDKFRGEEQFSSGPSFETISASGLNAALAHYSPTKELNRKLSSDEMYLLD
  SGGQYWDGTTDITRTVHWGTPSAFQKEAYTRVLIGNIDLSRLIFPAATSGRMVEAFARRALWDAGLNYGHGTGHG
  IGNFLCVHEWPVGFQSNNIAMAKGMFTSIEPGYYKDGEFGIRLEDVALVVEAKTKYPGSYLTFEVVSFVPYDRNL
  IDVSLLSPEHLQYLNRYYQTIREKVGPELQRRQLLEEFEWLQQHTEPLAARAPDTASWASVLVVSTLAILGWSV

• Structural information:
  • Interpro: IPR029149  IPR036005  IPR000587  IPR000994  IPR033740   IPR032416  IPR001131  
  • Prosite: PS00491
  • CDD: cd01085
  • STRING: ENSP00000360147
• Other Databases: GeneCards:  XPNPEP2  Malacards:  XPNPEP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0070006	metalloaminopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0004177	aminopeptidase activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R