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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ERAP2
endoplasmic reticulum aminopeptidase 2
Chromosome 5 · 5q15
NCBI Gene: 64167Ensembl: ENSG00000164308.18HGNC: HGNC:29499UniProt: A0AAQ5BHS6
106PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumendopeptidase activityprotein bindingmetallopeptidase activityhypertensioninflammatory bowel diseaseCrohn's diseasepsoriasis
✦AI Summary

ERAP2 (endoplasmic reticulum aminopeptidase 2) is a metalloaminopeptidase that plays a central role in antigen processing and presentation via MHC class I molecules 12. The enzyme functions by trimming peptides to the optimal length required for presentation on MHC class I molecules, preferentially cleaving basic residues such as arginine and lysine in the endoplasmic reticulum lumen 1. ERAP2 exhibits remarkable genetic polymorphism across human populations, with haplotypes that encode different functional variants 32. These genetic variations have significant disease relevance, as ERAP2 polymorphisms are associated with autoimmune diseases, infectious diseases, and cancers 2. Notably, ERAP2 variants were under positive selection during historical pandemics, including the Black Death, where the rs2549794 variant associated with full-length ERAP2 production provided protection against Yersinia pestis by improving cytokine responses and intracellular bacterial control in macrophages 4. However, these historically protective variants paradoxically increase susceptibility to modern autoimmune diseases, exemplifying evolutionary trade-offs 4. ERAP2 has also been implicated in birdshot chorioretinopathy pathogenesis 5 and identified as a potential therapeutic target for various conditions including intracranial aneurysms 6.

Sources cited
1
ERAP2 is involved in MHC class I peptide generation and its altered expression affects tumor immunity
PMID: 30825518
2
ERAP2 trims peptides for optimal MHC class I presentation and genetic variations influence disease susceptibility
PMID: 30797823
3
ERAP2 is highly polymorphic with haplotypes conferring resistance to infectious diseases but increasing autoimmune risk
PMID: 37925533
4
ERAP2 variants were under positive selection during the Black Death, with rs2549794 providing protection against Y. pestis
PMID: 36261521
5
ERAP2 plays a role in birdshot chorioretinopathy pathogenesis
PMID: 36013011
6
ERAP2 is identified as a potential therapeutic target for intracranial aneurysms
PMID: 39051921
Disease Associationsⓘ20
hypertensionOpen Targets
0.41Moderate
inflammatory bowel diseaseOpen Targets
0.40Weak
Crohn's diseaseOpen Targets
0.36Weak
psoriasisOpen Targets
0.32Weak
juvenile idiopathic arthritisOpen Targets
0.31Weak
psoriatic arthritisOpen Targets
0.30Weak
lichen planusOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
substance abuseOpen Targets
0.28Weak
pulmonary vascular congestionOpen Targets
0.27Weak
birdshot chorioretinopathyOpen Targets
0.26Weak
ovarian dysfunctionOpen Targets
0.26Weak
skin neoplasmOpen Targets
0.21Weak
response to xenobiotic stimulusOpen Targets
0.21Weak
cardiovascular diseaseOpen Targets
0.13Weak
acute myeloid leukemiaOpen Targets
0.10Suggestive
myelodysplastic syndromeOpen Targets
0.10Suggestive
ankylosing spondylitisOpen Targets
0.09Suggestive
rheumatoid arthritisOpen Targets
0.09Suggestive
preeclampsiaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
TOSEDOSTATPhase II
Aminopeptidase inhibitor
acute myeloid leukemia by FAB classification
Related Genes
TPP2Protein interaction91%ERAP1Shared pathway42%LVRNShared pathway40%CPA4Shared pathway33%TRHDEShared pathway33%LNPEPShared pathway33%
Tissue Expression6 tissues
Lung
100%
Ovary
77%
Liver
58%
Heart
57%
Bone Marrow
56%
Brain
30%
Gene Interaction Network
Click a node to explore
ERAP2TPP2ERAP1LVRNCPA4TRHDELNPEP
PROTEIN STRUCTURE
Preparing viewer…
PDB6EA4 · 2.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.93–1.28]
RankingsWhere ERAP2 stands among ~20K protein-coding genes
  • #4,476of 20,598
    Most Researched106 · top quartile
  • #13,525of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedERAP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Potential diagnostic markers and therapeutic targets for rheumatoid arthritis with comorbid depression based on bioinformatics analysis.
PMID: 36911710
Front Immunol · 2023
1.00
2
Birdshot Chorioretinopathy: A Review.
PMID: 36013011
J Clin Med · 2022
0.90
3
Regulation of ERAP1 and ERAP2 genes and their disfunction in human cancer.
PMID: 30825518
Hum Immunol · 2019
0.80
4
Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations.
PMID: 30797823
Hum Immunol · 2019
0.70
5
Identification of immune-inflammation targets for intracranial aneurysms: a multiomics and epigenome-wide study integrating summary-data-based Mendelian randomization, single-cell-type expression analysis, and DNA methylation regulation.
PMID: 39051921
Int J Surg · 2025
0.60