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

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; AllianceGenome:HGNC:29499
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: all
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Genomic context

Location:: 5q15

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (96875939..96919716)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (97376720..97420596)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (96211643..96255420)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A study of the association between single nucleotide polymorphisms of the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene and the risk of ankylosing spondylitis in Egyptians.
Title: A study of the association between single nucleotide polymorphisms of the endoplasmic reticulum aminopeptidase 2 (ERAP2) gene and the risk of ankylosing spondylitis in Egyptians.
A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs.
Title: A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs.
ERAP1 and ERAP2 Haplotypes Influence Suboptimal HLA-B*27:05-Restricted Anti-Viral CD8+ T Cell Responses Cross-Reactive to Self-Epitopes.
Title: ERAP1 and ERAP2 Haplotypes Influence Suboptimal HLA-B*27:05-Restricted Anti-Viral CD8+ T Cell Responses Cross-Reactive to Self-Epitopes.
Cell-Specific and Variant-Linked Alterations in Expression of ERAP1, ERAP2, and LNPEP Aminopeptidases in Psoriasis.
Title: Cell-Specific and Variant-Linked Alterations in Expression of ERAP1, ERAP2, and LNPEP Aminopeptidases in Psoriasis.
A Comparative Review of Pregnancy and Cancer and Their Association with Endoplasmic Reticulum Aminopeptidase 1 and 2.
Title: A Comparative Review of Pregnancy and Cancer and Their Association with Endoplasmic Reticulum Aminopeptidase 1 and 2.
ERAP2 supports TCR recognition of three immunotherapy targeted tumor epitopes.
Title: ERAP2 supports TCR recognition of three immunotherapy targeted tumor epitopes.
The ER Aminopeptidases, ERAP1 and ERAP2, synergize to self-modulate their respective activities.
Title: The ER Aminopeptidases, ERAP1 and ERAP2, synergize to self-modulate their respective activities.
ERAP2 as a potential biomarker for predicting gemcitabine response in patients with pancreatic cancer.
Title: ERAP2 as a potential biomarker for predicting gemcitabine response in patients with pancreatic cancer.
ERAP2 is a novel target involved in autophagy and activation of pancreatic stellate cells via UPR signaling pathway.
Title: ERAP2 is a novel target involved in autophagy and activation of pancreatic stellate cells via UPR signaling pathway.
ERAP2 Is Associated With Immune Infiltration and Predicts Favorable Prognosis in SqCLC.
Title: ERAP2 Is Associated With Immune Infiltration and Predicts Favorable Prognosis in SqCLC.

Submit: New GeneRIF Correction See all GeneRIFs (73)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KS618 (e-PCR)
- UniSTS:253189

sY3084 (e-PCR)
- UniSTS:515126

LRAP__7431 (e-PCR)
- UniSTS:466277

RH102337 (e-PCR)
- UniSTS:96671

RH102392 (e-PCR)
- UniSTS:96726

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aminopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables metalloaminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I	TAS Traceable Author Statement more info	PubMed
involved_in antigen processing and presentation of peptide antigen via MHC class I	TAS Traceable Author Statement more info
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of blood pressure	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: endoplasmic reticulum aminopeptidase 2

Names: leukocyte-derived arginine aminopeptidase

NP_001123612.1

EC 3.4.11.-

NP_001316158.1

EC 3.4.11.-

NP_001316162.1

EC 3.4.11.-

NP_071745.1

EC 3.4.11.-

XP_011541846.1

EC 3.4.11.-

XP_047273446.1

EC 3.4.11.-

XP_054209052.1

EC 3.4.11.-

XP_054209053.1

EC 3.4.11.-

NCBI Reference Sequences (RefSeq)

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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

NG_051092.1 RefSeqGene

Range

5562..48765

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130140.2 → NP_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, Q7Z5K1, Q8TD32, Q8WVJ4, Q9HBX2

UniProtKB/TrEMBL

B2R769

Related

ENSP00000421175.2, ENST00000510373.6

Conserved Domains (3) summary

cd09601
Location:76 → 548

M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)

pfam01433
Location:68 → 458

Peptidase_M1; Peptidase family M1

pfam11838
Location:621 → 938

ERAP1_C; ERAP1-like C-terminal domain
NM_001329229.1 → NP_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/TrEMBL

B2R769

Related

ENSP00000369235.4, ENST00000379904.8

Conserved Domains (3) summary

cd09601
Location:76 → 503

M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)

pfam01433
Location:68 → 413

Peptidase_M1; Peptidase family M1

pfam11838
Location:576 → 893

ERAP1_C; ERAP1-like C-terminal domain
NM_001329233.1 → NP_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:76 → 325

GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
NM_022350.5 → NP_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, Q7Z5K1, Q8TD32, Q8WVJ4, Q9HBX2

UniProtKB/TrEMBL

B2R769

Related

ENSP00000400376.3, ENST00000437043.8

Conserved Domains (3) summary

cd09601
Location:76 → 548

M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)

pfam01433
Location:68 → 458

Peptidase_M1; Peptidase family M1

pfam11838
Location:621 → 938

ERAP1_C; ERAP1-like C-terminal domain

RNA

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

96875939..96919716

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543544.3 → XP_011541846.1 endoplasmic reticulum aminopeptidase 2 isoform X1

UniProtKB/TrEMBL

B2R769

Related

ENSP00000519508.1, ENST00000714228.1

Conserved Domains (3) summary

cd09601
Location:76 → 525

M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)

pfam01433
Location:68 → 458

Peptidase_M1; Peptidase family M1

pfam11838
Location:598 → 915

ERAP1_C; ERAP1-like C-terminal domain
XM_047417490.1 → XP_047273446.1 endoplasmic reticulum aminopeptidase 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

97376720..97420596

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353077.1 → XP_054209052.1 endoplasmic reticulum aminopeptidase 2 isoform X1
XM_054353078.1 → XP_054209053.1 endoplasmic reticulum aminopeptidase 2 isoform X1