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.	3118
Gene name Gene Name - the full gene name approved by the HGNC.	Major histocompatibility complex, class II, DQ alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HLA-DQA2
Synonyms (NCBI Gene) Gene synonyms aliases	DC-alpha, DQA1, DX-ALPHA, HLA-DCA, HLA-DXA, HLADQA2
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to r

Show/Hide all(9)

miRTarBase ID	miRNA	Experiments
MIRT2243291	hsa-miR-1253	CLIP-seq
MIRT2243292	hsa-miR-1270	CLIP-seq
MIRT2243293	hsa-miR-137	CLIP-seq
MIRT2243294	hsa-miR-2115	CLIP-seq
MIRT2243295	hsa-miR-3919	CLIP-seq
MIRT2243296	hsa-miR-3977	CLIP-seq
MIRT2243297	hsa-miR-4683	CLIP-seq
MIRT2243298	hsa-miR-516a-3p	CLIP-seq
MIRT2243299	hsa-miR-620	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
RFX5	Unknown	11258423
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002250	Process	Adaptive immune response	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	3036828
GO:0006955	Process	Immune response	NAS	3036828
GO:0010008	Component	Endosome membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
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	3036828
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042613	Component	MHC class II protein complex	IEA
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

MIM	HGNC	e!Ensembl
613503	4943	ENSG00000237541

Protein

UniProt ID

P01906

Protein name

HLA class II histocompatibility antigen, DQ alpha 2 chain (DX alpha chain) (HLA class II histocompatibility antigen, DQ(6) alpha chain) (HLA-DQA1) (MHC class II DQA2)

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00993	MHC_II_alpha	29 → 109	Class II histocompatibility antigen, alpha domain	Domain
PF07654	C1-set	115 → 196	Immunoglobulin C1-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to skin Langerhans cells, although some expression at low levels may occur at the surface of B lymphoblastoid cells. {ECO:0000269|PubMed:22407913, ECO:0000269|PubMed:9036956}.

Sequence

MILNKALLLGALALTAVMSPCGGEDIVADHVASYGVNFYQSHGPSGQYTHEFDGDEEFYV
DLETKETVWQLPMFSKFISFDPQSALRNMAVGKHTLEFMMRQSNSTAATNEVPEVTVFSK
FPVTLGQPNTLICLVDNIFPPVVNITWLSNGHSVTEGVSETSFLSKSDHSFFKISYLTFL
PSADEIYDCKVEHWGLDEPLLKHWEPEIPAPMSELTETLVCALGLSVGLMGIVVGTVFII
QGLRSVGASRHQGLL

Sequence length

255

Interactions

View interactions

	KEGG		Reactome
	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		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

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	26829030
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)	17632545
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28008999
Lung carcinoma	Squamous cell carcinoma of lung, Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	28604730
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	19836008
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	22899653, 19654303
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	17660530
Myasthenia gravis	Myasthenia Gravis	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913 View all (8 more)	23055271
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17568789, 19503088, 21156761, 17804836
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19571809, 28540026

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Asthma	Asthma	31619474, 21150878	ClinVar
Celiac disease	Celiac Disease	20190752, 17558408	ClinVar
Sarcoidosis	Sarcoidosis	26651848, 22952805	ClinVar

HLA-DQA2 (major histocompatibility complex, class II, DQ alpha 2)