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ERAP2 endoplasmic reticulum aminopeptidase 2 [ Homo sapiens (human) ]

Gene ID: 64167, updated on 18-Nov-2019

Summary

Official Symbol
ERAP2provided by HGNC
Official Full Name
endoplasmic reticulum aminopeptidase 2provided by HGNC
Primary source
HGNC:HGNC:29499
See related
Ensembl:ENSG00000164308 MIM:609497
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRAP; L-RAP
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. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]
Expression
Broad expression in lymph node (RPKM 22.9), spleen (RPKM 19.0) and 23 other tissues See more
Orthologs

Genomic context

See ERAP2 in Genome Data Viewer
Location:
5q15
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (96875939..96919716)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96211644..96255420)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene calpastatin Neighboring gene uncharacterized LOC105379094 Neighboring gene uncharacterized LOC102724748 Neighboring gene endoplasmic reticulum aminopeptidase 1 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene leucyl and cystinyl aminopeptidase Neighboring gene SET pseudogene 22

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ERAP2; predicted interaction to be involved in antigenicity/immunity PubMed
capsid gag HIV-1 p24 levels in PBMC cultures are significantly lower in ERAP2 homoA compared with both homoB and heteroAB samples, suggesting homoA is correlated with resistance to HIV-1 infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystem (from REACTOME)
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystemUnlike other glycoproteins, correct folding of MHC class I molecules is not sufficient to trigger their exit from the ER, they exit only after peptide loading. Described here is the process of antige...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23633, FLJ23701, FLJ23807

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metalloaminopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of endogenous peptide antigen via MHC class I TAS
Traceable Author Statement
more info
PubMed 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
peptide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of blood pressure TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
endoplasmic reticulum aminopeptidase 2
Names
leukocyte-derived arginine aminopeptidase
NP_001123612.1
NP_001316158.1
NP_001316162.1
NP_071745.1
XP_011541846.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051092.1 RefSeqGene

    Range
    5562..48765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130140.2NP_001123612.1  endoplasmic reticulum aminopeptidase 2 isoform 1

    See identical proteins and their annotated locations for NP_001123612.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein (isoform 1).
    Source sequence(s)
    AC008850, AF191545, AK312864, AV688559, CA311579, DA990479, DB159802
    Consensus CDS
    CCDS4086.1
    UniProtKB/Swiss-Prot
    Q6P179
    UniProtKB/TrEMBL
    B2R769
    Conserved Domains (3) summary
    cd09601
    Location:76548
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam01433
    Location:68458
    Peptidase_M1; Peptidase family M1
    pfam11838
    Location:621938
    ERAP1_C; ERAP1-like C-terminal domain
  2. NM_001329229.1NP_001316158.1  endoplasmic reticulum aminopeptidase 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AC008850, AV688559, BC065240, BU430967, CA311579, DA990479
    Consensus CDS
    CCDS87317.1
    UniProtKB/Swiss-Prot
    Q6P179
    Related
    ENSP00000369235.4, ENST00000379904.8
    Conserved Domains (3) summary
    cd09601
    Location:76503
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam01433
    Location:68413
    Peptidase_M1; Peptidase family M1
    pfam11838
    Location:576893
    ERAP1_C; ERAP1-like C-terminal domain
  3. NM_001329233.1NP_001316162.1  endoplasmic reticulum aminopeptidase 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR, lacks multiple exons in the 3' coding region and its 3' terminal exon extends past a known splice donor site, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AV688559, BC017927, BC065240, BU430967, DA990479
    Consensus CDS
    CCDS87316.1
    UniProtKB/Swiss-Prot
    Q6P179
    Related
    ENSP00000425758.1, ENST00000510309.1
    Conserved Domains (1) summary
    cl14813
    Location:76325
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  4. NM_022350.5NP_071745.1  endoplasmic reticulum aminopeptidase 2 isoform 1

    See identical proteins and their annotated locations for NP_071745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 both encode the same protein (isoform 1).
    Source sequence(s)
    AC008850, AF191545, AK312864, AV688559, CA311579
    Consensus CDS
    CCDS4086.1
    UniProtKB/Swiss-Prot
    Q6P179
    UniProtKB/TrEMBL
    B2R769
    Related
    ENSP00000400376.3, ENST00000437043.7
    Conserved Domains (3) summary
    cd09601
    Location:76548
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam01433
    Location:68458
    Peptidase_M1; Peptidase family M1
    pfam11838
    Location:621938
    ERAP1_C; ERAP1-like C-terminal domain

RNA

  1. NR_137637.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB163917, AC008850, AC009126, AV688559, BC065240, BU430967, CA311579, DA990479

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    96875939..96919716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543544.2XP_011541846.1  endoplasmic reticulum aminopeptidase 2 isoform X1

    Conserved Domains (3) summary
    cd09601
    Location:76525
    M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
    pfam01433
    Location:68458
    Peptidase_M1; Peptidase family M1
    pfam11838
    Location:598915
    ERAP1_C; ERAP1-like C-terminal domain

RNA

  1. XR_001742179.2 RNA Sequence

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