ERAP2 (endoplasmic reticulum aminopeptidase 2)

Gene

• Entrez ID: 64167
• Gene name: Endoplasmic reticulum aminopeptidase 2
• Gene symbol: ERAP2
• Synonyms: L-RAP, LRAP
• Chromosome: 5
• Chromosome location: 5q15
• Summary: 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. Certai

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029241	hsa-miR-26b-5p	Microarray	19088304
MIRT052185	hsa-let-7b-5p	CLASH	23622248
MIRT643530	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT643529	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT643528	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT643527	hsa-miR-4532	HITS-CLIP	23824327
MIRT643526	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT643525	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT643524	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT643523	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT643522	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT643521	hsa-miR-4284	HITS-CLIP	23824327
MIRT643520	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT643519	hsa-miR-4633-5p	HITS-CLIP	23824327
MIRT643518	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT497139	hsa-miR-5092	PAR-CLIP	22291592
MIRT497138	hsa-miR-140-3p	PAR-CLIP	22291592
MIRT497137	hsa-miR-27b-5p	PAR-CLIP	22291592
MIRT643530	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT643529	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT643528	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT643527	hsa-miR-4532	HITS-CLIP	23824327
MIRT643526	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT643525	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT643524	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT643523	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT643522	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT643521	hsa-miR-4284	HITS-CLIP	23824327
MIRT643520	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT643519	hsa-miR-4633-5p	HITS-CLIP	23824327
MIRT643518	hsa-miR-491-3p	HITS-CLIP	23824327
MIRT497139	hsa-miR-5092	PAR-CLIP	22291592
MIRT497138	hsa-miR-140-3p	PAR-CLIP	22291592
MIRT497137	hsa-miR-27b-5p	PAR-CLIP	22291592
MIRT967754	hsa-miR-1294	CLIP-seq
MIRT967755	hsa-miR-3616-3p	CLIP-seq
MIRT967756	hsa-miR-4316	CLIP-seq
MIRT967757	hsa-miR-4436b-3p	CLIP-seq
MIRT967758	hsa-miR-4677-3p	CLIP-seq
MIRT967759	hsa-miR-4679	CLIP-seq
MIRT967760	hsa-miR-4721	CLIP-seq
MIRT967761	hsa-miR-664	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967763	hsa-miR-1193	CLIP-seq
MIRT967764	hsa-miR-1229	CLIP-seq
MIRT967765	hsa-miR-1249	CLIP-seq
MIRT967766	hsa-miR-129-5p	CLIP-seq
MIRT967767	hsa-miR-136	CLIP-seq
MIRT967768	hsa-miR-1976	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967770	hsa-miR-2392	CLIP-seq
MIRT967771	hsa-miR-3149	CLIP-seq
MIRT967772	hsa-miR-3152-3p	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967775	hsa-miR-4264	CLIP-seq
MIRT967776	hsa-miR-4321	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967778	hsa-miR-4454	CLIP-seq
MIRT967779	hsa-miR-4662a-5p	CLIP-seq
MIRT967780	hsa-miR-4676-5p	CLIP-seq
MIRT967781	hsa-miR-4704-3p	CLIP-seq
MIRT967782	hsa-miR-4715-3p	CLIP-seq
MIRT967783	hsa-miR-4722-3p	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967786	hsa-miR-575	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967763	hsa-miR-1193	CLIP-seq
MIRT967765	hsa-miR-1249	CLIP-seq
MIRT967767	hsa-miR-136	CLIP-seq
MIRT967768	hsa-miR-1976	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967770	hsa-miR-2392	CLIP-seq
MIRT967772	hsa-miR-3152-3p	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT1986716	hsa-miR-4438	CLIP-seq
MIRT967778	hsa-miR-4454	CLIP-seq
MIRT967779	hsa-miR-4662a-5p	CLIP-seq
MIRT967780	hsa-miR-4676-5p	CLIP-seq
MIRT1986717	hsa-miR-5095	CLIP-seq
MIRT967786	hsa-miR-575	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT2387510	hsa-miR-1307	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967766	hsa-miR-129-5p	CLIP-seq
MIRT2387510	hsa-miR-1307	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967771	hsa-miR-3149	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967776	hsa-miR-4321	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967782	hsa-miR-4715-3p	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq
MIRT967762	hsa-miR-1	CLIP-seq
MIRT967766	hsa-miR-129-5p	CLIP-seq
MIRT2387510	hsa-miR-1307	CLIP-seq
MIRT967769	hsa-miR-206	CLIP-seq
MIRT967771	hsa-miR-3149	CLIP-seq
MIRT967773	hsa-miR-3652	CLIP-seq
MIRT967774	hsa-miR-3673	CLIP-seq
MIRT967776	hsa-miR-4321	CLIP-seq
MIRT967777	hsa-miR-4430	CLIP-seq
MIRT967782	hsa-miR-4715-3p	CLIP-seq
MIRT967783	hsa-miR-4722-3p	CLIP-seq
MIRT967784	hsa-miR-4735-5p	CLIP-seq
MIRT967785	hsa-miR-4775	CLIP-seq
MIRT967787	hsa-miR-590-3p	CLIP-seq
MIRT967788	hsa-miR-613	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF1	Unknown	15691326
IRF2	Unknown	15691326
NFKB1	Unknown	20103633
RELA	Unknown	20103633
SPI1	Unknown	15691326

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0004177	Function	Aminopeptidase activity	IDA	12799365
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	12799365
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	15691326
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0007165	Process	Signal transduction	IBA	21873635
GO:0008217	Process	Regulation of blood pressure	IBA	21873635
GO:0008217	Process	Regulation of blood pressure	TAS	12799365
GO:0008237	Function	Metallopeptidase activity	IDA	12799365
GO:0008270	Function	Zinc ion binding	IBA	21873635
GO:0008270	Function	Zinc ion binding	TAS	12799365
GO:0016021	Component	Integral component of membrane	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	TAS	15691326
GO:0042277	Function	Peptide binding	IBA	21873635
GO:0043171	Process	Peptide catabolic process	IBA	21873635
GO:0070006	Function	Metalloaminopeptidase activity	IBA	21873635

Other IDs

• MIM: 609497
• HGNC: 29499
• e!Ensembl: ENSG00000164308

Protein

• UniProt ID: Q6P179
• Protein name: Endoplasmic reticulum aminopeptidase 2 (EC 3.4.11.-) (Leukocyte-derived arginine aminopeptidase) (L-RAP)
• Protein 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 require
• PDB: 3SE6, 4E36, 4JBS, 5AB0, 5AB2, 5CU5, 5J6S, 5K1V, 6EA4, 7NSK, 7NUP, 7P7P, 7PFS, 7SH0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17900	Peptidase_M1_N	74 → 263		Domain
  PF01433	Peptidase_M1	298 → 541	Peptidase family M1 domain	Domain
  PF11838	ERAP1_C	620 → 940	ERAP1-like C-terminal domain	Domain

• Sequence:

  MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGE
  RFPWQELRLPSVVIPLHYDLFVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNA
  TLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHLKYYVAMDFQAKLGDGFEGFY
  KSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
  TIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYAL
  QASLKLLDFYEKYFDIYYPLSKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASD
  KLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQFDDYFLNV
  CFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
  YLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNMLAFLGENAEVKEMMTT
  WTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVI
  HRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRV
  GLIHDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISE
  NLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMES
  SGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKL
  IELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISG
  TTAHFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT
  

• Sequence length: 960

Pathways

Reactome:

Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	26301688
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	26301688
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	26301688
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	26301688
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	23128233, 28067908, 26192919
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	23143594, 26301688, 26974007

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007, 26301688, 23749187
Autoimmune thyroiditis	Autoimmune thyroiditis		26301688
Celiac disease	Celiac Disease	rs2305764, rs35218876	26301688
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease, Regional enteritis	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	21102463, 26192919, 26301688, 28067908, 26974007, 21102463
Crohn`s disease of large bowel	Crohn`s disease of large bowel		21102463
Crohn`s disease of the ileum	Crohn`s disease of the ileum		21102463
Ileocolitis	IIeocolitis		21102463
Lupus erythematosus	Lupus Erythematosus, Systemic		26301688
Ulcerative colitis	Ulcerative Colitis		26974007, 26301688