HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1)

Gene

• Entrez ID: 3119
• Gene name: Major histocompatibility complex, class II, DQ beta 1
• Gene symbol: HLA-DQB1
• Synonyms (NCBI Gene): CELIAC1, HLA-DQB, IDDM1
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides deriv

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1048415	hsa-miR-1183	CLIP-seq
MIRT1048416	hsa-miR-3117-3p	CLIP-seq
MIRT1048417	hsa-miR-3169	CLIP-seq
MIRT1048418	hsa-miR-3170	CLIP-seq
MIRT1048419	hsa-miR-3189-3p	CLIP-seq
MIRT1048420	hsa-miR-342-5p	CLIP-seq
MIRT1048421	hsa-miR-380	CLIP-seq
MIRT1048422	hsa-miR-3924	CLIP-seq
MIRT1048423	hsa-miR-4252	CLIP-seq
MIRT1048424	hsa-miR-4495	CLIP-seq
MIRT1048425	hsa-miR-4651	CLIP-seq
MIRT1048426	hsa-miR-4664-5p	CLIP-seq
MIRT1048427	hsa-miR-4691-3p	CLIP-seq
MIRT1048428	hsa-miR-4695-3p	CLIP-seq
MIRT1048429	hsa-miR-4738-5p	CLIP-seq
MIRT1048430	hsa-miR-4759	CLIP-seq
MIRT1048431	hsa-miR-608	CLIP-seq
MIRT1048432	hsa-miR-944	CLIP-seq
MIRT1048415	hsa-miR-1183	CLIP-seq
MIRT1048416	hsa-miR-3117-3p	CLIP-seq
MIRT1048417	hsa-miR-3169	CLIP-seq
MIRT1048423	hsa-miR-4252	CLIP-seq
MIRT1048427	hsa-miR-4691-3p	CLIP-seq
MIRT1048430	hsa-miR-4759	CLIP-seq
MIRT1048415	hsa-miR-1183	CLIP-seq
MIRT1048416	hsa-miR-3117-3p	CLIP-seq
MIRT1048417	hsa-miR-3169	CLIP-seq
MIRT1048423	hsa-miR-4252	CLIP-seq
MIRT1048427	hsa-miR-4691-3p	CLIP-seq
MIRT1048428	hsa-miR-4695-3p	CLIP-seq
MIRT1048430	hsa-miR-4759	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Unknown	11332992
CREB1	Unknown	1324879
DEK	Unknown	12823858
RFX5	Unknown	11258423;18723135
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423;18723135

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002381	Process	Immunoglobulin production involved in immunoglobulin-mediated immune response	IDA	17050030
GO:0002455	Process	Humoral immune response mediated by circulating immunoglobulin	IDA	17050030
GO:0005515	Function	Protein binding	IPI	14769912, 17629515, 29997244
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	NAS	2998758
GO:0010008	Component	Endosome membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	NAS	2998758
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA	32341563
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0032395	Function	MHC class II receptor activity	NAS	2998758
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042605	Function	Peptide antigen binding	ISS	20356827
GO:0042613	Component	MHC class II protein complex	ISS	20356827
GO:0050852	Process	T cell receptor signaling pathway	IDA	32341563
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0071556	Component	Integral component of lumenal side of endoplasmic reticulum membrane	TAS

Other IDs

• MIM: 604305
• HGNC: 4944
• e!Ensembl: ENSG00000179344

Protein

• UniProt ID: P01920
• Protein name: HLA class II histocompatibility antigen, DQ beta 1 chain (MHC class II antigen DQB1)
• Protein function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. T
• PDB: 1JK8, 1S9V, 1UVQ, 2NNA, 4GG6, 4OZF, 4OZG, 4OZH, 4OZI, 8VSP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00969	MHC_II_beta	45 → 118	Class II histocompatibility antigen, beta domain	Domain
  PF07654	C1-set	131 → 212	Immunoglobulin C1-set domain	Domain

• Sequence:

  MSWKKALRIPGGLRAATVTLMLAMLSTPVAEGRDSPEDFVYQFKAMCYFTNGTERVRYVT
  RYIYNREEYARFDSDVEVYRAVTPLGPPDAEYWNSQKEVLERTRAELDTVCRHNYQLELR
  TTLQRRVEPTVTISPSRTEALNHHNLLVCSVTDFYPAQIKVRWFRNDQEETTGVVSTPLI
  RNGDWTFQILVMLEMTPQHGDVYTCHVEHPSLQNPITVEWRAQSESAQSKMLSGIGGFVL
  GLIFLGLGLIIHHRSQKGLLH

• Sequence length: 261

Pathways

KEGG:

Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Reactome:

Downstream TCR signaling
Phosphorylation of CD3 and TCR zeta chains
Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
MHC class II antigen presentation
PD-1 signaling
Interferon gamma signaling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Macrocytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Creutzfeldt-jakob disease	New Variant Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Disease, Familial	rs193922906, rs74315401, rs28933385, rs74315412, rs398122370
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset, NON RARE IN EUROPE: Diabetes mellitus type 1	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, 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, 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, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, 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, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, 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, rs371977235, 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, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	26168013, 31152121, 30054458
Glomerulonephritis	IGA Glomerulonephritis	rs778043831	25305756
Lymphoma	Lymphoma, Lymphoma, Follicular	rs11540652, rs1592119138, rs1592123162, rs1599367044	23025665
Moyamoya disease	Moyamoya Disease	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	9409445
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating, NON RARE IN EUROPE: Multiple sclerosis, Pediatric multiple sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544
Narcolepsy	Narcolepsy, Narcolepsy type 1, Narcolepsy type 2	rs104894574, rs387906655	20711174, 24204295, 27253765, 27081540, 18706091
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	29903748, 31263063
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Polyneuropathy	Polyneuropathy	rs1597597437
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	21156761, 17804836, 19503088
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764, 28540026, 30285260, 11423178, 15149287

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		31619474, 30552067, 30929738, 10792356	ClinVar
Celiac disease	Celiac Disease, NON RARE IN EUROPE: Celiac disease			ClinVar
Crohn disease	Crohn Disease		23266558	ClinVar
Kleine-levin syndrome	Kleine-Levin Syndrome		27253765, 27081540	ClinVar
Mental depression	Depressive disorder, Major Depressive Disorder		31619474	ClinVar
Sarcoidosis	Sarcoidosis		22952805	ClinVar