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.	3120
Gene name Gene Name - the full gene name approved by the HGNC.	Major histocompatibility complex, class II, DQ beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HLA-DQB2
Synonyms (NCBI Gene) Gene synonyms aliases	DQB2, HLA-DQB1, HLA-DXB
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.	HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptide

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030178	hsa-miR-26b-5p	Microarray	19088304
MIRT444943	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT444942	hsa-miR-369-5p	PAR-CLIP	22100165
MIRT444941	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT444943	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT444942	hsa-miR-369-5p	PAR-CLIP	22100165
MIRT444941	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT1048433	hsa-miR-1302	CLIP-seq
MIRT1048434	hsa-miR-1825	CLIP-seq
MIRT1048435	hsa-miR-3189-3p	CLIP-seq
MIRT1048436	hsa-miR-4298	CLIP-seq
MIRT1048437	hsa-miR-4312	CLIP-seq
MIRT1048438	hsa-miR-4450	CLIP-seq
MIRT1048439	hsa-miR-450b-3p	CLIP-seq
MIRT1048440	hsa-miR-4514	CLIP-seq
MIRT1048441	hsa-miR-4648	CLIP-seq
MIRT1048442	hsa-miR-4692	CLIP-seq
MIRT1048443	hsa-miR-515-3p	CLIP-seq
MIRT1048444	hsa-miR-519e	CLIP-seq
MIRT1048445	hsa-miR-642b	CLIP-seq
MIRT1048446	hsa-miR-769-3p	CLIP-seq
MIRT2243300	hsa-miR-148a	CLIP-seq
MIRT2243301	hsa-miR-148b	CLIP-seq
MIRT2243302	hsa-miR-152	CLIP-seq

Transcription factors

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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002250	Process	Adaptive immune response	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	NAS	2564844
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	2564844
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0042613	Component	MHC class II protein complex	NAS	2564844
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
615161	4945	ENSG00000232629

Protein

UniProt ID

P05538

Protein name

HLA class II histocompatibility antigen, DQ beta 2 chain (HLA class II histocompatibility antigen, DX beta chain) (MHC class II antigen DQB2)

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
PF00969	MHC_II_beta	45 → 117	Class II histocompatibility antigen, beta domain	Domain
PF07654	C1-set	130 → 211	Immunoglobulin C1-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Restricted to skin Langerhans cells (at protein level). {ECO:0000269|PubMed:22407913}.

Sequence

MSWKMALQIPGGFWAAAVTVMLVMLSTPVAEARDFPKDFLVQFKGMCYFTNGTERVRGVA
RYIYNREEYGRFDSDVGEFQAVTELGRSIEDWNNYKDFLEQERAAVDKVCRHNYEAELRT
TLQRQVEPTVTISPSRTEALNHHNLLVCSVTDFYPAQIKVRWFRNDQEETAGVVSTSLIR
NGDWTFQILVMLEITPQRGDIYTCQVEHPSLQSPITVEWRAQSESAQSKMLSGIGGFVLG
LIFLGLGLIIRHRGQKGPRGPPPAGLLH

Sequence length

268

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 (3)

Disease term	Disease name	dbSNP ID	References
Causal
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
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	17660530
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17804836, 21156761, 19503088

HLA-DQB2 (major histocompatibility complex, class II, DQ beta 2)