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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. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]
ERAP2 (Endoplasmic Reticulum Aminopeptidase 2) is a Protein Coding gene. Diseases associated with ERAP2 include Spondylitis and Birdshot Chorioretinopathy. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and aminopeptidase activity. An important paralog of this gene is ERAP1.
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 | -- |
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 |
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
|
Symbol | External ID(s) | Details |
---|---|---|
AASDH | ||
ABCC6 | ||
ABCF2-H2BE1 | ||
ABHD14A-ACY1 | ||
ACO2 |
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:0008217 | regulation of blood pressure | TAS | 12799365 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ERAP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ERAP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ERAP2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ERAP2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | erap2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4467 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | CELE_F49B2.6 30 |
|
||
F49B2.6 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708756 | Likely Benign: not provided | 96,901,601(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
721263 | Benign: not provided | 96,915,724(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
726229 | Benign: not provided | 96,896,395(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
727215 | Benign: not provided | 96,896,421(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
733219 | Likely Benign: not provided | 96,879,870(+) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylitis |
|
|
birdshot chorioretinopathy |
|
|
eclampsia |
|
|
pre-eclampsia |
|
|
papillary thyroid microcarcinoma |
|
|