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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. Th... See more...
Aliases for ERAP2 Gene
Aliases for ERAP2 Gene
External Ids for ERAP2 Gene
- HGNC: 29499
- NCBI Entrez Gene: 64167
- Ensembl: ENSG00000164308
- OMIM®: 609497
- UniProtKB/Swiss-Prot: Q6P179
Previous GeneCards Identifiers for ERAP2 Gene
- GC05P096238
- GC05P091401
- GC05P096211
Summaries for ERAP2 Gene
-
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]
GeneCards Summary for ERAP2 Gene
ERAP2 (Endoplasmic Reticulum Aminopeptidase 2) is a Protein Coding gene. Diseases associated with ERAP2 include Spondylitis and Birdshot Chorioretinopathy. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is ERAP1.
UniProtKB/Swiss-Prot Summary for ERAP2 Gene
-
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.
Additional gene information for ERAP2 Gene
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERAP2 Gene
Genomics for ERAP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ERAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ERAP2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERAP2
- Top Transcription factor binding sites by QIAGEN in the ERAP2 gene promoter:
-
- FOXD3
- Nkx5-1
- Pax-2
- Pax-2a
- Pax-2b
- Pbx1a
- POU6F1 (c2)
Genomic Locations for ERAP2 Gene
Latest Assembly
- chr5:96,875,939-96,919,716
- (GRCh38/hg38)
- Size:
- 43,778 bases
- Orientation:
- Plus strand
Previous Assembly
- chr5:96,211,643-96,255,420
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 43,778 bases
- Orientation:
- Plus strand
Genomic View for ERAP2 Gene
Genes around ERAP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q15 by HGNC
- 5q15 by Entrez Gene
- 5q15 by Ensembl
ERAP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ERAP2 Gene
Proteins for ERAP2 Gene
-
Protein details for ERAP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6P179-ERAP2_HUMAN
- Recommended name:
- Endoplasmic reticulum aminopeptidase 2
- Protein Accession:
- Q6P179
- Q7Z5K1
- Q8TD32
- Q8WVJ4
- Q9HBX2
Protein attributes for ERAP2 Gene
- Size:
- 960 amino acids
- Molecular mass:
- 110462 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
-
- 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.
Three dimensional structures from OCA and Proteopedia for ERAP2 Gene
Protein Expression for ERAP2 Gene
Selected DME Specific Peptides for ERAP2 Gene
- Q6P179:
-
- GAMENWG
- FSIKIRRE
- GYYIVHY
- WFGNLVT
- HELAHQWFG
- TWTLQKG
Post-translational modifications for ERAP2 Gene
Other Protein References for ERAP2 Gene
Antibodies for research
- LifeSpan BioSciences ERAP2 / Aminopeptidase Antibody
- G Biosciences Immunotag™ ERAP2 Polyclonal Antibody
- Novus Biologicals Antibodies for ERAP2
-
Abcam antibodies for ERAP2
- Invitrogen Antibodies for ERAP2 (AFLGC-ERAP2)
-
Custom Antibody ServicesProSci Antibodies for ERAP2
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ERAP2
- Origene Custom Protein Services for ERAP2
- Sino Biological Recombinant Proteins for ERAP2
- Sino Biological Cell Lysates for ERAP2
- antibodies-online: Show 5 available ERAP2 Proteins ranked by validation data
- Compare Top ERAP2 Proteins
-
Quality Products:
-
Abcam proteins for ERAP2
Assay products for research
- RayBiotech Human Aminopeptidase LRAP/ERAP2 ELISA
- antibodies-online: Show 7 available ERAP2 Elisa Kits ranked by validation data
- Compare Top ERAP2 Elisa Kits
-
Quality Products:
Domains & Families for ERAP2 Gene
Gene Families for ERAP2 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for ERAP2 Gene
Suggested Antigen Peptide Sequences for ERAP2 Gene
- GenScript: Design optimal peptide antigens:
-
- Leukocyte-derived arginine aminopeptidase (ERAP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6P179- Family:
-
- Belongs to the peptidase M1 family.
Function for ERAP2 Gene
Molecular function for ERAP2 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot Induction:
- By IFNG/IFN-gamma.
Enzyme Numbers (IUBMB) for ERAP2 Gene
Phenotypes From GWAS Catalog for ERAP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004177 | aminopeptidase activity | IDA | 12799365 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IEA,IDA | 12799365 |
| GO:0008270 | zinc ion binding | IEA,TAS | 12799365 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ERAP2 Gene
- GenomeRNAi human phenotypes for ERAP2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Increased HPV18 LCR reporter activity
- Decreased homologous recombination repair frequency
- Decreased BPV1 E2 protein expression
- Increased Salmonella enterica Typhimurium invasion
- Increased transcriptional activity
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ERAP2 - Starting at $85 >
- * ERAP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ERAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERAP2
miRNA for ERAP2 Gene
- miRTarBase miRNAs that target ERAP2
-
- hsa-miR-26b-5p (MIRT029241)
- hsa-let-7b-5p (MIRT052185)
- hsa-miR-27b-5p (MIRT497137)
- hsa-miR-140-3p (MIRT497138)
- hsa-miR-5092 (MIRT497139)
- hsa-miR-491-3p (MIRT643518)
- hsa-miR-4633-5p (MIRT643519)
- hsa-miR-629-5p (MIRT643520)
- hsa-miR-4284 (MIRT643521)
- hsa-miR-2276-3p (MIRT643522)
- hsa-miR-4638-5p (MIRT643523)
- hsa-miR-1307-3p (MIRT643524)
- hsa-miR-1304-3p (MIRT643525)
- hsa-miR-6741-3p (MIRT643526)
- hsa-miR-4532 (MIRT643527)
- hsa-miR-1247-3p (MIRT643528)
- hsa-miR-6890-3p (MIRT643529)
- hsa-miR-1306-5p (MIRT643530)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERAP2
- Browse OriGene Inhibitory RNA Products For ERAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAP2
Clone products for research
- Applied Biological Materials (abm): Clones for ERAP2 - Starting at $45 >
- * ERAP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
OriGene ORF clones in human for ERAP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ERAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP2
Cell Lines for research
-
Horizon Cell Lines for ERAP2
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERAP2 Gene
Localization for ERAP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ERAP2 Gene
- Endoplasmic reticulum membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| mitochondrion | 4 |
| extracellular | 2 |
| endosome | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | IDA,TAS | 15691326 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005886 | plasma membrane | IBA | 21873635 |
Pathways & Interactions for ERAP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Antigen Presentation- Folding, assembly and peptide loading of class I MHC | ||
| 3 | Innate Immune System |
.61
|
|
Pathways by source for ERAP2 Gene
Interacting Proteins for ERAP2 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| AASDH | ||
| ABCC6 | ||
| ABCF2-H2BE1 | ||
| ABHD14A-ACY1 | ||
| ACO2 |
GPS-Prot Interaction Network for ERAP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002474 | antigen processing and presentation of peptide antigen via MHC class I | TAS | -- |
| GO:0006508 | proteolysis | IEA,IBA | 21873635 |
| GO:0007165 | signal transduction | IBA | 21873635 |
No data available for SIGNOR curated interactions for ERAP2 Gene
Transcripts for ERAP2 Gene
mRNA/cDNA for ERAP2 Gene
- 4 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379904 3219 nts (view in UCSC)
- ENST00000437043 5131 nts (view in UCSC)
- ENST00000507346 582 nts (view in UCSC)
- ENST00000508077 489 nts (view in UCSC)
- ENST00000510309 1275 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ERAP2 - Starting at $85 >
- * ERAP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ERAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERAP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERAP2
- Browse OriGene Inhibitory RNA Products For ERAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAP2
Clone products for research
- Applied Biological Materials (abm): Clones for ERAP2 - Starting at $45 >
- * ERAP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
OriGene ORF clones in human for ERAP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ERAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP2
| 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: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | ^ | 19 | ^ | 20a | · | 20b | · | 20c | ^ | 21a | · | 21b | ^ | 22 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||
| SP9: | - | - | |||||||||||||||||||||
| SP10: | |||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||
| SP13: |
Relevant External Links for ERAP2 Gene
- GeneLoc Exon Structure for
- ERAP2
Expression for ERAP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Cardiovascular System)
- Endothelium (Cardiovascular System)
-
Thymus (Hematopoietic System)
- T Helper Cells Thymus
- T-Cytotoxic Cells Thymus
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
This gene is overexpressed in Ovary (12.8), Lymph node (11.4), and Peripheral blood mononuclear cells (6.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERAP2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERAP2
SOURCE GeneReport for Unigene cluster for ERAP2 Gene:
Hs.482910mRNA Expression by UniProt/SwissProt for ERAP2 Gene:
Q6P179-ERAP2_HUMAN
Tissue specificity:
Ubiquitously expressed. Highly expressed in spleen and leukocytes.
Evidence on tissue expression from TISSUES for ERAP2 Gene
- Skin(4.4)
- Muscle(4.3)
- Bone marrow(4.3)
- Blood(2.7)
- Spleen(2.4)
- Lymph node(2.4)
- Nervous system(2.3)
- Intestine(2.1)
Primer products for research
-
OriGene qPCR primer pairs for ERAP2
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERAP2 Gene
Orthologs for ERAP2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ERAP2 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ERAP2 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ERAP2 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ERAP2 30 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | erap2 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4467 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_F49B2.6 29 |
|
||
| F49B2.6 30 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for ERAP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Lizard (Anolis carolinensis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Mouse (Mus musculus)
- Oppossum (Monodelphis domestica)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for ERAP2 Gene
- ENSEMBL:
- Gene Tree for ERAP2 (if available)
- TreeFam:
- Gene Tree for ERAP2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ERAP2: view image
- Alliance of Genome Resources:
- Additional Orthologs for ERAP2
Paralogs for ERAP2 Gene
Paralogs for ERAP2 Gene
(9) SIMAP similar genes for ERAP2 Gene using alignment to 5 proteins:
- ERAP2_HUMAN
- D6RF46_HUMAN
- D6RGW0_HUMAN
- H0Y9X9_HUMAN
- H0YAL8_HUMAN
Variants for ERAP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERAP2 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs146257614 | Likely Benign: not provided | 96,901,601(+) |
G/A NM_022350.5(ERAP2):c.1668G>A (p.Gly556=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs147105600 | Benign: not provided | 96,896,421(+) |
T/C NM_022350.5(ERAP2):c.1288T>C (p.Leu430=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs148344927 | Benign: not provided | 96,896,395(+) |
G/A NM_022350.5(ERAP2):c.1262G>A (p.Cys421Tyr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs1581849348 | Benign: not provided | 96,896,864(+) |
G/GTAAGTCATATGTT
NM_022350.5(ERAP2):c.1503+3_1503+102dup |
SPLICE_DONOR | |
| rs182324439 | Benign: not provided | 96,915,724(+) |
C/T NM_022350.5(ERAP2):c.2694C>T (p.Ile898=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3349e59 | CNV | tandem duplication | 20981092 |
| esv2658182 | CNV | deletion | 23128226 |
| esv3379222 | CNV | duplication | 20981092 |
| esv3605868 | CNV | loss | 21293372 |
| nsv1021263 | CNV | loss | 25217958 |
| nsv1028741 | CNV | gain | 25217958 |
| nsv1119530 | CNV | insertion | 24896259 |
| nsv1142441 | CNV | tandem duplication | 24896259 |
| nsv516293 | CNV | gain+loss | 19592680 |
| nsv598962 | CNV | gain | 21841781 |
| nsv598963 | CNV | gain | 21841781 |
| nsv823147 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
91.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.86;
74.08% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ERAP2 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERAP2 Gene
Disorders for ERAP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondylitis |
|
|
| birdshot chorioretinopathy |
|
|
| eclampsia |
|
|
| immunodeficiency 48 |
|
|
| pre-eclampsia |
|
|
Search ERAP2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ERAP2
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ERAP2 Gene
Publications for ERAP2 Gene
- Human leukocyte-derived arginine aminopeptidase. The third member of the oxytocinase subfamily of aminopeptidases. (PMID: 12799365) Tanioka T … Tsujimoto M (The Journal of biological chemistry 2003) 2 3 4 22
- Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. (PMID: 19433412) Tsui FW … Inman RD (Annals of the rheumatic diseases 2010) 3 22 40
- The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PMID: 19578876) Johnson MP … Moses EK (Human genetics 2009) 3 22 40
- Expression of endoplasmic reticulum aminopeptidases in EBV-B cell lines from healthy donors and in leukemia/lymphoma, carcinoma, and melanoma cell lines. (PMID: 16585582) Fruci D … Giacomini P (Journal of immunology (Baltimore, Md. : 1950) 2006) 3 4 22
- Regulation of the human leukocyte-derived arginine aminopeptidase/endoplasmic reticulum-aminopeptidase 2 gene by interferon-gamma. (PMID: 15691326) Tanioka T … Tsujimoto M (The FEBS journal 2005) 3 4 22
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Products for ERAP2 Gene
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