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FLASH GENE

Symbol

ERAP2

contributors: mct/npt/pgu - updated : 15-04-2014

HGNC name	endoplasmic reticulum aminopeptidase 2
HGNC id	29499

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5q15      Physical location : 96.211.643 - 96.255.398
Synonym name	leukocyte-derived arginine aminopeptidase
	endoplasmic reticulum aminopeptidase 2
Synonym symbol(s)	L-RAP, FLJ23633, FLJ23701, LRAP, FLJ23807
EC.number	3.4.11.-

DNA

TYPE	functioning gene
STRUCTURE	43.76 kb     18 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	Variants 1 and 2 both the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130140 19 - 5254 NP_001123612 - 960 - 2005 15908954 NM_022350 19 - 5691 NP_071745 - 960 - 2005 15908954

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Lymphoid/Immune thymus       highly   tonsils       highly Respiratory respiratory tract trachea     highly Urinary kidney renal medulla       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central white matter

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune natural killer

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a HEXXH(X)18E zinc-binding motif, which is characteristic of the M1 family of zinc metallopeptidases

HOMOLOGY

intraspecies	homolog to ARTS1
	paralog to ERAP1

Homologene

FAMILY	oxytocinase subfamily of aminopeptidases
	peptidase M1 family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic
text	located in the lumenal side of the endoplasmic reticulum
	localized in the cytosol and ER with its major C-terminal part and active site in the ER lumen

basic FUNCTION	aminopeptidase that can trim the N-terminal extended precursors to antigenic peptides in the endoplasmic reticulum
	play a role in blood pressure regulation and essential hypertension in addition to innate immune and inflammatory responses
	ERAP1, ERAP2, LNPEP play critical roles in the generation of antigenic peptides
	plays potentially a role in the development of preeclampsia
	requirement of LNPEP in cross-presentation extends to steady-state conventional dendritic cells
	ERAP1 and ERAP2 cooperate to trim antigenic peptide precursors for loading onto MHC class I molecules and help regulate the adaptive immune response
	ERAP1 and ERAP2 might play an important role in shaping the MHC class I-presented peptide repertoire
	ERAP1 and ERAP2 might be involved in the development of immune escape mechanisms of renal cell carcinoma

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associated physically with ERAP1 in complexes that were most likely heterodimeric
	association between ERAP2 and EPCAM is a unique and novel finding that provides new ideas on EPCAM processing and on how antigen presentation may be regulated in cancer

cell & other

REGULATION

induced by

interferon gamma

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to preeclampsia to Crohn disease to viral and bacterial infections, autoimmunity and cancer with altered antigen processing

Variant & Polymorphism SNP	associated with preeclampsia
	increasing the risk of Crohn disease
	SNP inducing a specificity switch that leads to altered antigen processing

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS