ERAP2 (endoplasmic reticulum aminopeptidase 2)

2007-02-01  

Identity

HGNC
ERAP2
LOCATION
5q15
LOCUSID
64167
ALIAS
L-RAP,LRAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64167
MIM: 609497
HGNC: 29499
Ensembl: ENSG00000164308

Variants:

dbSNP: 64167
ClinVar: 64167
TCGA: ENSG00000164308
COSMIC: ERAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164308ENST00000379904Q6P179
ENSG00000164308ENST00000437043Q6P179
ENSG00000164308ENST00000507346D6RF46
ENSG00000164308ENST00000508077H0YAL8
ENSG00000164308ENST00000510309Q6P179
ENSG00000164308ENST00000510373D6RGW0
ENSG00000164308ENST00000512869H0Y9X9
ENSG00000164308ENST00000513084Q6P179

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
209762482010Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation.76
195788762009The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations.39
195788762009The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations.39
160540152005The oxytocinase subfamily of M1 aminopeptidases.36
183691782008SNP-specific array-based allele-specific expression analysis.34
228374892012A common single nucleotide polymorphism in endoplasmic reticulum aminopeptidase 2 induces a specificity switch that leads to altered antigen processing.32
183932732008Altered expression of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in transformed non-lymphoid human tissues.31
208438242010Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection.30
208438242010Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection.30
194334122010Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.29

Citation

Dessen P

ERAP2 (endoplasmic reticulum aminopeptidase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46264/erap2-(endoplasmic-reticulum-aminopeptidase-2)