Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64167
Gene name Gene Name - the full gene name approved by the HGNC.	Endoplasmic reticulum aminopeptidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ERAP2
Synonyms (NCBI Gene) Gene synonyms aliases	L-RAP, LRAP
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q15
Summary Summary of gene provided in NCBI Entrez 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. Certai

Show/Hide all(132)

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

Show/Hide all(5)

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

Show/Hide all(20)

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

MIM	HGNC	e!Ensembl
609497	29499	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

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in spleen and leukocytes. {ECO:0000269|PubMed:12799365}.

Sequence

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

Sequence length

960

Interactions

View interactions

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

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
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	rs869025224	26301688
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113 View all (35 more)	26301688
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	26301688
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	23128233, 28067908, 26192919
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	23143594, 26301688, 26974007

Show/Hide Unknown Diseases (8)

Disease term	Disease name	References	Source
Unknown
Celiac disease	Celiac Disease	26301688	ClinVar
Crohn disease	Crohn Disease, Regional enteritis	21102463, 26192919, 26301688, 28067908, 26974007	ClinVar
Crohn Disease	Crohn Disease		GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Ankylosing Spondylitis	Ankylosing Spondylitis		GWAS
Frontal Fibrosing Alopecia	Frontal Fibrosing Alopecia		GWAS
Hypertension	Hypertension		GWAS
Ulcerative colitis	Ulcerative colitis		GWAS

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text Mining
Arthritis Juvenile	Associate	25540605, 37229810
Arthritis Psoriatic	Associate	28083616
Autoimmune Diseases	Associate	28651467, 32265295, 36261521, 36889308, 38190099
Azoospermia	Associate	27628680
Bare Lymphocyte Syndrome Type I	Associate	28651467
Behcet Syndrome	Associate	25892735, 28651467, 31092671
Birdshot Chorioretinopathy	Associate	24957906, 29769354, 34727153
Carcinogenesis	Associate	36214762
Carcinoma Non Small Cell Lung	Associate	34149699
Carcinoma Pancreatic Ductal	Associate	34642112
Carcinoma Renal Cell	Associate	23696916
Carcinoma Squamous Cell	Associate	34992605
Choriocarcinoma	Associate	29324974
Communicable Diseases	Associate	32847031
COVID 19	Associate	32847031
Crohn Disease	Associate	22253828, 30446528, 36889308
Diabetic Nephropathies	Associate	36444934
Eclampsia	Associate	33762660
Epstein Barr Virus Infections	Associate	16585582
Essential Hypertension	Associate	19578876
Fibrosis	Associate	34642112
Glioblastoma	Associate	25356585
HIV Infections	Inhibit	31379846
Inflammation	Associate	19578876, 22253828, 25892735
Inflammatory Bowel Diseases	Associate	22543157, 25766683, 28651467
Influenza Human	Associate	30446528, 32847031
Lymphatic Metastasis	Associate	26148615
Malaria	Associate	30740100
Melanoma	Inhibit	20419298
Neoplasms	Associate	16585582, 30463956, 34149699, 36608422
Neoplasms	Stimulate	34642112
Osteoarthritis	Associate	33782454
Osteoporosis	Inhibit	39884015
Pancreatic Neoplasms	Associate	32596278, 34143198, 36214762, 38330578
Papillary Thyroid Microcarcinoma	Associate	26148615
Pneumonia	Associate	36889308
Pre Eclampsia	Associate	19578876, 24331737, 26010865, 32210971, 33762660, 34445292
Psoriasis	Associate	28083616
Respiratory Tract Infections	Associate	36889308
Spondylitis Ankylosing	Associate	25892735, 28083616, 28651467, 29769354, 31530632, 32265295, 32917832
Urinary Bladder Neoplasms	Associate	30463956
Uterine Cervical Dysplasia	Associate	32321463
Uterine Cervical Neoplasms	Associate	32321463
Uveitis	Associate	33717175

ERAP2 (endoplasmic reticulum aminopeptidase 2)