Gene Gene information from NCBI Gene database.
Entrez ID 64167
Gene name Endoplasmic reticulum aminopeptidase 2
Gene symbol ERAP2
Synonyms (NCBI Gene)
L-RAPLRAP
Chromosome 5
Chromosome location 5q15
Summary 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
miRNA miRNA information provided by mirtarbase database.
132
miRTarBase ID miRNA Experiments Reference
MIRT029241 hsa-miR-26b-5p Microarray 19088304
MIRT052185 hsa-let-7b-5p CLASH 23622248
MIRT643530 hsa-miR-1306-5p HITS-CLIP 23824327
MIRT643529 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT643528 hsa-miR-1247-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
IRF1 Unknown 15691326
IRF2 Unknown 15691326
NFKB1 Unknown 20103633
RELA Unknown 20103633
SPI1 Unknown 15691326
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I TAS
GO:0004175 Function Endopeptidase activity EXP 12436109, 12436110, 17088086
GO:0004177 Function Aminopeptidase activity IDA 12799365
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609497 29499 ENSG00000164308
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P179
Protein name Endoplasmic reticulum aminopeptidase 2 (EC 3.4.11.-) (Leukocyte-derived arginine aminopeptidase) (L-RAP)
Protein function Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length require
PDB 3SE6 , 4E36 , 4JBS , 5AB0 , 5AB2 , 5CU5 , 5J6S , 5K1V , 6EA4 , 7NSK , 7NUP , 7P7P , 7PFS , 7SH0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17900 Peptidase_M1_N 74 263 Domain
PF01433 Peptidase_M1 298 541 Peptidase family M1 domain Domain
PF11838 ERAP1_C 620 940 ERAP1-like C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in spleen and leukocytes. {ECO:0000269|PubMed:12799365}.
Sequence
MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGE
RFPWQELRLPSVVIPLHYDLFVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNA
TLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHLKYYVAMDFQAKLGDGFEGFY
KSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
TIELEGGLLEDHFETTVKMSTYL
VAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYAL
QASLKLLDFYEKYFDIYYPLSKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASD
KLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQFDDYFLNV
CFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
YLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNMLAFLGENAEVKEMMTT
W
TLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVI
HRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRV
GLIHDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISE
NLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMES
SGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKL
IELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISG
TTAHFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITK
NIKWLEKNLPTLRTWLMVNT
Sequence length 960
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lymphoma Uncertain significance rs145600606 RCV005937470
Malignant lymphoma, large B-cell, diffuse Uncertain significance rs145600606 RCV005937469
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Juvenile Associate 25540605, 37229810
Arthritis Psoriatic Associate 28083616
Autoimmune Diseases Associate 28651467, 32265295, 36261521, 36889308, 38190099
Azoospermia Associate 27628680
Bare Lymphocyte Syndrome Type I Associate 28651467
Behcet Syndrome Associate 25892735, 28651467, 31092671
Birdshot Chorioretinopathy Associate 24957906, 29769354, 34727153
Carcinogenesis Associate 36214762
Carcinoma Non Small Cell Lung Associate 34149699
Carcinoma Pancreatic Ductal Associate 34642112