Aliases for ERAP2 Gene
Aliases for ERAP2 Gene
External Ids for ERAP2 Gene
- HGNC: 29499
- Entrez Gene: 64167
- Ensembl: ENSG00000164308
- OMIM: 609497
- UniProtKB: 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 Antigen Presentation- Folding, assembly and peptide loading of class I MHC. 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 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
- Monarch Initiative
- Search for ERAP2 at DataMed
- Search for ERAP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERAP2 Gene
Genomics for ERAP2 Gene
GeneHancer (GH) Regulatory Elements for ERAP2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ERAP2 gene promoter:
-
- POU6F1 (c2)
- Pax-2
- Pax-2a
- Pax-2b
- FOXD3
- Nkx5-1
- Pbx1a
Regulatory Element Products
Genomic Locations for ERAP2 Gene
Genomic Locations for ERAP2 Gene
- chr5:96,875,939-96,919,716
- (GRCh38/hg38)
- Size:
- 43,778 bases
- Orientation:
- Plus strand
- chr5:96,211,643-96,255,420
- (GRCh37/hg19)
- 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 Entrez Gene
- 5q15 by HGNC
- 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
Post-translational modifications for ERAP2 Gene
- N-glycosylated.
- Glycosylation at isoforms=3714, Asn650, Asn431, Asn405, isoforms=2, 3, 4119, and Asn85
- Ubiquitination at Lys181
- Modification sites at PhosphoSitePlus
Other Protein References for ERAP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for ERAP2 (Aminopeptidase LRAP/ERAP2)
- Novus Biologicals Antibodies for ERAP2
-
Abcam antibodies for ERAP2
- Invitrogen Antibodies for ERAP2
- GeneTex ERAP2 Antibody for ERAP2
-
Custom Antibody ServicesProSci Antibodies for ERAP2
Protein Products
- R&D Systems Proteins and Enzymes for ERAP2 (Aminopeptidase LRAP/ERAP2)
- 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: Search results for 5 available ERAP2 Proteins ranked by validation data
- Compare Top ERAP2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for ERAP2
-
Abcam proteins for ERAP2
Assay Products
- antibodies-online: Search results for 6 available ERAP2 Elisa Kits ranked by validation data
- Compare Top ERAP2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ERAP2 Gene
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ERAP2 Gene
- GenScript: Design optimal peptide antigens:
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:0004175 | endopeptidase activity | EXP | 12436109 |
| GO:0004177 | aminopeptidase activity | IEA,IDA | 12799365 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008237 | metallopeptidase activity | IEA,IDA | 12799365 |
| GO:0008270 | zinc ion binding | IEA,TAS | 12799365 |
Phenotypes for ERAP2 Gene
- GenomeRNAi human phenotypes for ERAP2:
-
- Decreased BPV1 E2 protein expression
- Increased HPV18 LCR reporter activity
- Increased transcriptional activity
- Decreased homologous recombination repair frequency
- Decreased Salmonella enterica Typhimurium invasion
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERAP2
-
CRISPR Products
-
OriGene CRISPR knockouts for ERAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP2
- genomics-online: gRNA clones - Search results for available ERAP2 gene related products
- Applied Biological Materials CRISPR for ERAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERAP2
- GenScript: Design CRISPR guide RNA sequences 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available ERAP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERAP2
- VectorBuilder custom plasmid, inducible vectors for ERAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP2
- genomics-online: cdna clones - Search results for available ERAP2 gene related products
- orf clones - Search results for available ERAP2 gene related products
- Applied Biological Materials Clones for ERAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| mitochondrion | 4 |
| plasma membrane | 3 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005788 | endoplasmic reticulum lumen | TAS | 15691326 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005886 | plasma membrane | IBA | -- |
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 |
|---|---|---|
| A2M | ||
| A2ML1 | ||
| ABHD14A-ACY1 | ||
| ACACB | ||
| ACLY |
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 | -- |
| GO:0007165 | signal transduction | IBA | -- |
No data available for SIGNOR curated interactions for ERAP2 Gene
Transcripts for ERAP2 Gene
mRNA/cDNA for ERAP2 Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (142) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000437043 5705 bps (uc003kmq.4)
- ENST00000510373 2309 bps (uc063fqh.1)
- ENST00000513084 3434 bps (uc063fqi.1)
- ENST00000379904 3219 bps (uc063fqj.1)
- ENST00000510309 1275 bps (uc063fqk.1)
Unigene Clusters for ERAP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ERAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP2
- genomics-online: gRNA clones - Search results for available ERAP2 gene related products
- Applied Biological Materials CRISPR for ERAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERAP2
- GenScript: Design CRISPR guide RNA sequences for ERAP2
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available ERAP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERAP2
- VectorBuilder custom plasmid, inducible vectors for ERAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP2
- genomics-online: cdna clones - Search results for available ERAP2 gene related products
- orf clones - Search results for available ERAP2 gene related products
- Applied Biological Materials Clones for ERAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of ERAP2 Gene:
ERAP2SOURCE 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
- Bone marrow(4.1)
- Muscle(4.1)
- Skin(4.1)
- Blood(2.3)
Primer Products
-
OriGene qPCR primer pairs for ERAP2
- genomics-online: primer clones - Search results for available ERAP2 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ERAP2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ERAP2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ERAP2 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | erap2 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG4467 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | CELE_F49B2.6 33 |
|
||
| F49B2.6 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for ERAP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
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
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs34261036 | benign, not specified | 96,895,352(+) | T/C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000047069 | -- | 96,906,128(+) | T/C | intron_variant | |
| rs1000060125 | -- | 96,879,390(+) | T/C | intron_variant | |
| rs1000074611 | -- | 96,885,581(+) | G/T | intron_variant | |
| rs1000146343 | -- | 96,885,907(+) | G/A | intron_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERAP2 Gene
Disorders for ERAP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondylitis |
|
|
| birdshot chorioretinopathy |
|
|
| papillary thyroid microcarcinoma |
|
|
Search ERAP2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ERAP2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
- Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. (PMID: 19433412) Tsui FW … Inman RD (Annals of the rheumatic diseases 2010) 3 22 44 58
- The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PMID: 19578876) Johnson MP … Moses EK (Human genetics 2009) 3 22 44 58
- 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 58
- Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum. (PMID: 15908954) Saveanu L … van Endert PM (Nature immunology 2005) 2 3 4 58
Products for ERAP2 Gene
- R&D Systems Antibodies for ERAP2 (Aminopeptidase LRAP/ERAP2)
- R&D Systems Proteins and Enzymes for ERAP2 (Aminopeptidase LRAP/ERAP2)
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- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ERAP2
- Origene Custom Protein Services for ERAP2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERAP2
- Browse OriGene Inhibitory RNA Products For ERAP2
- OriGene qPCR primer pairs for ERAP2
- OriGene CRISPR knockouts for ERAP2
- OriGene ORF clones in human for ERAP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ERAP2
- GenScript: Next-day shipping of latest version cDNA ORF clones for ERAP2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ERAP2
- GenScript Custom Assay Services for ERAP2
- GenScript Custom overexpressing Cell Line Services for ERAP2
- GenScript: Design CRISPR guide RNA sequences for ERAP2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ERAP2
- Sino Biological Human cDNA Clone for ERAP2
- Sino Biological Recombinant Proteins for ERAP2
- Sino Biological Cell Lysates for ERAP2
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ERAP2
- Novus Biologicals lysates and proteins for ERAP2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for ERAP2
- Abcam proteins for ERAP2
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- Cyagen custom Knockout/knockin (KOKI) mouse models for ERAP2
- VectorBuilder custom plasmid, inducible vectors for ERAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERAP2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 28 available ERAP2 Antibodies ranked by validation data
- Compare Top ERAP2 Antibodies
- antibodies-online: Search results for 6 available ERAP2 Elisa Kits ranked by validation data
- Compare Top ERAP2 Elisa Kits
- Quality Products:
- antibodies-online: Search results for 5 available ERAP2 Proteins ranked by validation data
- Compare Top ERAP2 Proteins
- Quality Products:
- GeneTex ERAP2 Antibody for ERAP2
- Search GeneTex for Proteins for ERAP2
- Custom Antibody ServicesProSci Antibodies for ERAP2
- Search for ERAP2 Proteins at ProSci
- Horizon Cell Lines for ERAP2
- genomics-online: cdna clones - Search results for available ERAP2 gene related products
- orf clones - Search results for available ERAP2 gene related products
- genomics-online: gRNA clones - Search results for available ERAP2 gene related products
- genomics-online: primer clones - Search results for available ERAP2 gene related products
- genomics-online: shRNA clones - Search results for available ERAP2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERAP2
- GeneCopoeia miRNA 3'UTR Target clone products for ERAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERAP2
Sources for ERAP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt