• Gene id: 64167

Gene Summary

• Gene Symbol: ERAP2   Gene   UCSC   Ensembl
• Aliases: L-RAP, LRAP
• Gene name: endoplasmic reticulum aminopeptidase 2
• Alternate names: endoplasmic reticulum aminopeptidase 2, leukocyte-derived arginine aminopeptidase,
• Gene location: 5q15 (14643633: 14504875)     Exons: 12     NC_000011.10
• Gene summary(Entrez): This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certai
• OMIM: 609497

SNPs

rs11135484

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

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

Protein Summary

• Protein general information: Q6P179  
  • Name: Endoplasmic reticulum aminopeptidase 2 (EC 3.4.11. ) (Leukocyte derived arginine aminopeptidase) (L RAP)
  • Length: 960  
  • Mass: 110462
  • Tissue specificity: Ubiquitously expressed. Highly expressed in spleen and leukocytes. {ECO
• Sequence:

  MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIP
  LHYDLFVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIAL
  LVPEKLTPHLKYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIR
  RESRHIALSNMPKVKTIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYAL
  QASLKLLDFYEKYFDIYYPLSKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVTRVIAHELAHQ
  WFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQFDDYFLNVCFEVITKDSLNSSRPISKPAETPTQIQEMF
  DEVSYNKGACILNMLKDFLGEEKFQKGIIQYLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNML
  AFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVI
  HRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRVGLIHDVFQLVGAGRL
  TLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISENLKRYLLQYFKPVIDRQSWSDKGSVWDRML
  RSALLKLACDLNHAPCIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNKIL
  YALSTSKHQEKLLKLIELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISG
  TTAHFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT

• Structural information:
  • Interpro: IPR042097  IPR024571  IPR033528  IPR034016  IPR001930   IPR014782  
  • Prosite: PS00142
  • CDD: cd09601
  • PDB: 3SE6 4E36 4JBS 5AB0 5AB2 5CU5 5J6S 5K1V 6EA4
  • PDBsum: 3SE6 4E36 4JBS 5AB0 5AB2 5CU5 5J6S 5K1V 6EA4
  • STRING: ENSP00000400376
• Other Databases: GeneCards:  ERAP2  Malacards:  ERAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:0008217	regulation of blood pressure	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	TAS	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0042277	peptide binding	IBA	molecular function
GO:0043171	peptide catabolic process	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0070006	metalloaminopeptidase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA	biological process
GO:0070006	metalloaminopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
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)