HLA-DMA (major histocompatibility complex, class II, DM alpha)

Gene

• Entrez ID: 3108
• Gene name: Major histocompatibility complex, class II, DM alpha
• Gene symbol: HLA-DMA
• Synonyms (NCBI Gene): D6S222E, DMA, HLADM, RING6
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018266	hsa-miR-335-5p	Microarray	18185580
MIRT2010988	hsa-miR-4642	CLIP-seq
MIRT2010989	hsa-miR-4720-5p	CLIP-seq
MIRT2010990	hsa-miR-4799-3p	CLIP-seq
MIRT2546421	hsa-miR-3151	CLIP-seq
MIRT2546422	hsa-miR-3202	CLIP-seq
MIRT2546423	hsa-miR-4265	CLIP-seq
MIRT2546424	hsa-miR-4271	CLIP-seq
MIRT2546425	hsa-miR-4296	CLIP-seq
MIRT2546426	hsa-miR-4312	CLIP-seq
MIRT2546427	hsa-miR-4322	CLIP-seq
MIRT2546428	hsa-miR-4447	CLIP-seq
MIRT2546429	hsa-miR-4472	CLIP-seq
MIRT2546430	hsa-miR-4725-3p	CLIP-seq
MIRT2546431	hsa-miR-4747-5p	CLIP-seq
MIRT2546432	hsa-miR-4764-5p	CLIP-seq
MIRT2546433	hsa-miR-491-5p	CLIP-seq
MIRT2546434	hsa-miR-625	CLIP-seq
MIRT2546421	hsa-miR-3151	CLIP-seq
MIRT2546422	hsa-miR-3202	CLIP-seq
MIRT2546423	hsa-miR-4265	CLIP-seq
MIRT2546424	hsa-miR-4271	CLIP-seq
MIRT2546425	hsa-miR-4296	CLIP-seq
MIRT2546426	hsa-miR-4312	CLIP-seq
MIRT2546427	hsa-miR-4322	CLIP-seq
MIRT2546428	hsa-miR-4447	CLIP-seq
MIRT2546429	hsa-miR-4472	CLIP-seq
MIRT2546430	hsa-miR-4725-3p	CLIP-seq
MIRT2546431	hsa-miR-4747-5p	CLIP-seq
MIRT2546432	hsa-miR-4764-5p	CLIP-seq
MIRT2546433	hsa-miR-491-5p	CLIP-seq
MIRT2546434	hsa-miR-625	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Activation	9300700
CIITA	Unknown	7495736
RFX5	Unknown	11258423;7495736
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IDA	7606781, 9075930, 22733780, 23260142
GO:0005515	Function	Protein binding	IPI	21131964, 23222639
GO:0005765	Component	Lysosomal membrane	IDA	9075930
GO:0005765	Component	Lysosomal membrane	TAS
GO:0009986	Component	Cell surface	IDA	22247549
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0023026	Function	MHC class II protein complex binding	IDA	9075930, 22733780, 23260142
GO:0031902	Component	Late endosome membrane	IDA	9075930
GO:0042613	Component	MHC class II protein complex	IDA	7606781, 22247549, 22733780
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA

Other IDs

• MIM: 142855
• HGNC: 4934
• e!Ensembl: ENSG00000204257

Protein

• UniProt ID: P28067
• Protein name: HLA class II histocompatibility antigen, DM alpha chain (MHC class II antigen DMA) (Really interesting new gene 6 protein)
• Protein function: Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the inter
• PDB: 1HDM, 2BC4, 4FQX, 4GBX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00993	MHC_II_alpha	41 → 118	Class II histocompatibility antigen, alpha domain	Domain
  PF07654	C1-set	129 → 208	Immunoglobulin C1-set domain	Domain

• Sequence:

  MGHEQNQGAALLQMLPLLWLLPHSWAVPEAPTPMWPDDLQNHTFLHTVYCQDGSPSVGLS
  EAYDEDQLFFFDFSQNTRVPRLPEFADWAQEQGDAPAILFDKEFCEWMIQQIGPKLDGKI
  PVSRGFPIAEVFTLKPLEFGKPNTLVCFVSNLFPPMLTVNWHDHSVPVEGFGPTFVSAVD
  GLSFQAFSYLNFTPEPSDIFSCIVTHEIDRYTAIAYWVPRNALPSDLLENVLCGVAFGLG
  VLGIIVGIVLIIYFRKPCSGD

• 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Dermatitis	Contact Dermatitis, Dermatitis, Occupational	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	18348411, 16737583
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	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	17632545
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	17660530
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	28540026, 29121268