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ERAP2 Gene

protein-coding   GIFtS: 60
GCID: GC05P096211

Endoplasmic Reticulum Aminopeptidase 2

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Endoplasmic Reticulum Aminopeptidase 21 2     EC 3.4.11.-3
Leukocyte-Derived Arginine Aminopeptidase1 2 3     EC 3.4.118
LRAP2 3 5     EC 3.4.11.38
L-RAP2 3     

External Ids:    HGNC: 294991   Entrez Gene: 641672   Ensembl: ENSG000001643087   OMIM: 6094975   UniProtKB: Q6P1793   

Export aliases for ERAP2 gene to outside databases

Previous GC identifers: GC05P096238 GC05P091401


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERAP2 Gene:
Aminopeptidases hydrolyze N-terminal amino acids of proteins or peptide substrates. Major histocompatibility
complex (MHC) class I molecules rely on aminopeptidases such as ERAP1 (MIM 606832) and LRAP to trim precursors to
antigenic peptides in the endoplasmic reticulum (ER) following cleavage in the cytoplasm by tripeptidyl peptidase
II (TPP2; MIM 190470) (Tanioka et al., 2003 (PubMed 12799365)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ERAP2 Gene:
ERAP2 (endoplasmic reticulum aminopeptidase 2) is a protein-coding gene. Diseases associated with ERAP2 include ankylosing spondylitis, and spondylitis. GO annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is LNPEP.

UniProtKB/Swiss-Prot: ERAP2_HUMAN, Q6P179
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 required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic
residues Arg and Lys




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERAP2 gene promoter:
         Pbx1a   Pax-2b   FOXD3   Pax-2   Pax-2a   POU6F1 (c2)   Nkx5-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERAP2 promoter sequence
   Search Chromatin IP Primers for ERAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q15   Ensembl cytogenetic band:  5q15   HGNC cytogenetic band: 5q15

ERAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERAP2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P096211:  view genomic region     (about GC identifiers)

Start:
96,211,643 bp from pter      End:
96,255,420 bp from pter
Size:
43,778 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERAP2_HUMAN, Q6P179 (See protein sequence)
Recommended Name: Endoplasmic reticulum aminopeptidase 2  
Size: 960 amino acids; 110462 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Heterodimer with ERAP1
Miscellaneous: Defects in the expression of this gene may cause improper antigen processing, possibly leading to
favor tumor escape from the immune surveillance
3 PDB 3D structures from and Proteopedia for ERAP2:
3SE6 (3D)        4E36 (3D)        4JBS (3D)    
Secondary accessions: Q7Z5K1 Q8TD32 Q8WVJ4 Q9HBX2
Alternative splicing: 4 isoforms:  Q6P179-1   Q6P179-2   Q6P179-3   Q6P179-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ERAP2: NX_Q6P179

Explore proteomics data for ERAP2 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Ubiquitination2 at Lys181
  • Glycosylation2 at Asn85, Asn119, Asn405, Asn431, Asn650, Asn714
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ERAP2 (Q6P179) (see all 6)
     TWTLQKG  GYYIVHY  WFGNLVT  GAMENWG 


    See ERAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123612.1  NP_071745.1  

    ENSEMBL proteins: 
     ENSP00000400376   ENSP00000421175   ENSP00000421849   ENSP00000369235   ENSP00000425758  
     ENSP00000426655   ENSP00000427573   ENSP00000425415  
    Reactome Protein details: Q6P179

    ERAP2 Human Recombinant Protein Products:

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    Novus Biologicals ERAP2 Protein
    Novus Biologicals ERAP2 Lysates
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    Sino Biological Cell Lysate for ERAP2
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    ERAP2 Antibody Products:

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    ERAP2 Assay Products:

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    Cloud-Clone Corp. CLIAs for ERAP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Endoplasmic reticulum aminopeptidase 2
    Aminopeptidases

    3 InterPro protein domains:
     IPR014782 Peptidase_M1_N
     IPR024571 ERAP1-like_C_dom
     IPR001930 Peptidase_M1

    Graphical View of Domain Structure for InterPro Entry Q6P179

    ProtoNet protein and cluster: Q6P179

    UniProtKB/Swiss-Prot: ERAP2_HUMAN, Q6P179
    Similarity: Belongs to the peptidase M1 family


    ERAP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERAP2_HUMAN, Q6P179
    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 required for presentation on MHC class I molecules. Preferentially hydrolyzes the basic
    residues Arg and Lys
    Induction: By IFNG/IFN-gamma

         Enzyme Numbers (IUBMB): EC 3.4.11.-1 EC 3.4.11.32 EC 3.4.112

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004177aminopeptidase activity IDA12799365
    GO:0008237metallopeptidase activity IDA12799365
    GO:0008270zinc ion binding TAS12799365
         
    ERAP2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ERAP2:
     Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a  Increased Salmonella enterica  

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERAP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERAP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERAP2

    miRNA
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    miRTarBase miRNAs that target ERAP2:
    hsa-mir-26b-5p (MIRT029241), hsa-let-7b-5p (MIRT052185)

    Block miRNA regulation of human, mouse, rat ERAP2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ERAP2:
    hsa-miR-548a-3p hsa-miR-92a-1* hsa-miR-526b hsa-miR-548e
    SwitchGear 3'UTR luciferase reporter plasmidERAP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERAP2
    Predesigned siRNA for gene silencing in human, mouse, rat ERAP2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ERAP2 (NM_022350)
    Sino Biological Human cDNA Clone for ERAP2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERAP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERAP2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERAP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERAP2_HUMAN, Q6P179: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion3
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen TAS15691326
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    ERAP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ERAP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    2ER to Golgi Transport
    Antigen Presentation- Folding, assembly and peptide loading of class I MHC0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ERAP2
        Antigen Presentation: Folding, assembly and peptide loading of class I MHC



    ERAP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ERAP2
    Interactions:

        Search GeneGlobe Interaction Network for ERAP2

    1 Interacting protein for ERAP2 (Q6P1793) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERAP1Q9NZ083I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0006508proteolysis ----
    GO:0008217regulation of blood pressure TAS12799365
    GO:0019885antigen processing and presentation of endogenous peptide antigen via MHC class I TAS15691326

    ERAP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ERAP2

    4 Novoseek inferred chemical compound relationships for ERAP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyapatite 56.2 5 15299015 (2), 16674706 (1), 16674705 (1)
    leucine 41.1 7 19850130 (1), 15691326 (1), 12799365 (1), 16054015 (1)
    arginine 36.9 12 12799365 (3), 15691326 (2), 18466591 (1), 17129607 (1) (see all 5)
    proline 25.2 1 9715666 (1)



    ERAP2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ERAP2 gene (2 alternative transcripts): 
    NM_001130140.1  NM_022350.3  

    Unigene Cluster for ERAP2:

    Endoplasmic reticulum aminopeptidase 2
    Hs.482910  [show with all ESTs]
    Unigene Representative Sequence: NM_022350
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000437043(uc003kmq.3 uc003kmt.3 uc003kmr.3 uc003kms.3 uc003kmu.3)
    ENST00000510373 ENST00000513084 ENST00000379904 ENST00000510309 ENST00000507346
    ENST00000508077 ENST00000515095 ENST00000515387 ENST00000513368 ENST00000512869

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat ERAP2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ERAP2:
    hsa-miR-548a-3p hsa-miR-92a-1* hsa-miR-526b hsa-miR-548e
    SwitchGear 3'UTR luciferase reporter plasmidERAP2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ERAP2
    Predesigned siRNA for gene silencing in human, mouse, rat ERAP2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERAP2 (NM_022350)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERAP2
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ERAP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ERAP2
      QuantiTect SYBR Green Assays in human, mouse, rat ERAP2
      QuantiFast Probe-based Assays in human, mouse, rat ERAP2

    Additional mRNA sequence: 

    AB109031.1 AF191545.1 AK074213.1 AK074281.1 AK074387.1 AK312864.1 BC017927.2 BC065240.1 

    11 DOTS entries:

    DT.95150093  DT.410977  DT.70105296  DT.97762073  DT.100779286  DT.101964618  DT.100779288  DT.99929679 
    DT.95132452  DT.100773436  DT.75137702 

    Selected AceView cDNA sequences (see all 142):

    BU622565 AA863400 NM_022350 BU542817 AF191545 CB124945 BU620539 BX339240 
    AI276287 BG030257 AW014704 BG575301 AI684428 CB112167 BE646306 AI335035 
    BU155655 AA565542 BQ053677 BQ943632 BC017927 CR610687 AW471324 AI094253 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERAP2 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^
    SP1:        -                                               -                                                           -                       -               
    SP2:                                                                                                                    -                                       
    SP3:                                                                                                                    -                       -               
    SP4:                                      -                 -                                                                                                   
    SP5:                                                                                                                                            -               

    ExUns: 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for ERAP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ERAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ERAP2 Expression
    About this image


    ERAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 4 entries
             T Helper Cells Thymus
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Human umbilical vein endothelial cells (HUVEC)
             Endothelial-like cells
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    ERAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.482910

    UniProtKB/Swiss-Prot: ERAP2_HUMAN, Q6P179
    Tissue specificity: Ubiquitously expressed. Highly expressed in spleen and leukocytes

        Custom PCR Arrays for ERAP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERAP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ERAP2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia ERAP21 endoplasmic reticulum aminopeptidase 2 86.24(n)
    81.93(a)
      100856345  XM_005618072.1  XP_005618129.1 
    zebrafish
    (Danio rerio)
    Actinopterygii erap21 endoplasmic reticulum aminopeptidase 2 60.24(n)
    58.81(a)
      100144556  NM_001123052.1  NP_001116524.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG44676
    --
    24(a)
    1 → many
    3R(19053439-19074623)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F49B2.61 CELE_F49B2.6 45.13(n)
    32.25(a)
      173297  NM_061102.3  NP_493503.2 


    ENSEMBL Gene Tree for ERAP2 (if available)
    TreeFam Gene Tree for ERAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERAP2 gene
    LNPEP2  ENPEP2  TRHDE2  ANPEP2  LOC1010602122  ERAP12  NPEPPS2  AQPEP2  
    9 SIMAP similar genes for ERAP2 using alignment to 5 protein entries:     ERAP2_HUMAN (see all proteins):
    CD13    ERAP1    LNPEP    ANPEP    NPEPPSL1    TRHDE
    LOC100510707    ENPEP    NPEPPS

    ERAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ERAP2 (see all 1298)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1920236191,2
    C--96209682(+) CCAACA/GAGGAG 2 -- us2k10--------
    rs745115421,2
    C,F--96209774(+) CAAAGC/TTTATC 2 -- us2k11Minor allele frequency- T:0.04NA 120
    rs1425094261,2
    C--96209821(+) GGAAG-/GAAA  
            
    GAAAG
    2 -- us2k10--------
    rs131696521,2
    C--96209831(+) aaagaG/Aagaga 2 -- us2k1 trp31Minor allele frequency- A:0.00NA 2
    rs131868401,2
    C,F--96209839(+) agagaA/Gagaaa 2 -- us2k1 trp31Minor allele frequency- G:0.00NA 2
    rs1846264571,2
    --96209862(+) GAAAGA/GAAGAA 2 -- us2k10--------
    rs1385420391,2
    C--96209874(+) GAAAG-/AAAG  
      AAAGAA
    AGAGA
    2 -- us2k10--------
    rs1113264861,2
    C--96209882(+) GAAAGAA/-AGAGA 2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1509192791,2
    C--96209884(+) AGAGA-/AGAAAGAAAGA
    AAGAAAGAAAG
    /GA
    AAGAA
    2 -- us2k10--------
    rs131868631,2
    --96209887(+) AAAGAA/GAGAGA 2 -- us2k1 trp30--------

    HapMap Linkage Disequilibrium report for ERAP2 (96211643 - 96255420 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ERAP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658182CNV Deletion23128226
    nsv823147CNV Loss20364138
    nsv516293CNV Gain+Loss19592680
    esv259416OTHER Complex20981092
    esv259714OTHER Complex20981092

    Human Gene Mutation Database (HGMD): ERAP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERAP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609497    OMIM disorders: --

    14 diseases for ERAP2:    
    About MalaCards
    ankylosing spondylitis    spondylitis    mantle cell lymphoma    crohn's disease
    type 1 diabetes    pneumonia    inflammatory bowel disease    neuroblastoma
    tonsillitis    hepatocellular carcinoma    melanoma    hiv-1
    leukemia    endotheliitis


    ERAP2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ERAP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 4 16585582 (3)

    Genetic Association Database (GAD): ERAP2
    Human Genome Epidemiology (HuGE) Navigator: ERAP2 (7 documents)

    Export disorders for ERAP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ERAP2 gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with ERAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human leukocyte-derived arginine aminopeptidase. The third member of the oxytocinase subfamily of aminopeptidases. (PubMed id 12799365)1, 2, 3, 9 Tanioka T.... Tsujimoto M. (J. Biol. Chem. 2003)
    2. Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum. (PubMed id 15908954)1, 2, 3 Saveanu L....van Endert P.M. (Nat. Immunol. 2005)
    3. Regulation of the human leukocyte-derived arginine aminopeptidase/endoplasmic reticulum-aminopeptidase 2 gene by interferon-gamma. (PubMed id 15691326)1, 2, 9 Tanioka T.... Tsujimoto M. (FEBS J. 2005)
    4. The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PubMed id 19578876)1, 4, 9 Johnson M.P....Moses E.K. (Hum. Genet. 2009)
    5. Expression of endoplasmic reticulum aminopeptidases in EBV-B cell lines from healthy donors and in leukemia/lymphoma, carcinoma, and melanoma cell lines. (PubMed id 16585582)1, 2, 9 Fruci D....Giacomini P. (J. Immunol. 2006)
    6. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. (PubMed id 19433412)1, 4, 9 Tsui F.W....Inman R.D. (Ann. Rheum. Dis. 2010)
    7. The crystal structure of human endoplasmic reticulum aminopeptidase 2 reveals the atomic basis for distinct roles in antigen processing. (PubMed id 22106953)1, 2 Birtley J.R.... Mavridis I.M. (Biochemistry 2012)
    8. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1, 4 Franke A....Parkes M. (Nat. Genet. 2010)
    9. Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms. (PubMed id 20595269)1, 4 Haroon N....Inman R.D. (J. Rheumatol. 2010)
    10. Altered expression of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in transformed non-lymphoid human tissues. (PubMed id 18393273)1, 9 Fruci D....Natali P.G. (J. Cell. Physiol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64167 HGNC: 29499 AceView: LRAP Ensembl:ENSG00000164308 euGenes: HUgn64167
    ECgene: ERAP2 H-InvDB: ERAP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ERAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERAP2 gene:
    Search GeneIP for patents involving ERAP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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