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

2014-11-01 Affiliation

Identity

HGNC

HLA-DQA2

LOCATION

6p21.32

LOCUSID

3118

ALIAS

DC-alpha,DX-ALPHA,HLA-DCA,HLA-DXA,HLADQA2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3118
MIM: 613503
HGNC: 4943
Ensembl: ENSG00000237541

Variants:

dbSNP: 3118
ClinVar: 3118
TCGA: ENSG00000237541
COSMIC: HLA-DQA2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000237541	ENST00000374940	P01906
ENSG00000237541	ENST00000374940	Q76NI6

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cell adhesion molecules (CAMs)	KEGG	ko04514
Antigen processing and presentation	KEGG	ko04612
Hematopoietic cell lineage	KEGG	ko04640
Type I diabetes mellitus	KEGG	ko04940
Asthma	KEGG	ko05310
Autoimmune thyroid disease	KEGG	ko05320
Systemic lupus erythematosus	KEGG	ko05322
Allograft rejection	KEGG	ko05330
Graft-versus-host disease	KEGG	ko05332
Cell adhesion molecules (CAMs)	KEGG	hsa04514
Antigen processing and presentation	KEGG	hsa04612
Hematopoietic cell lineage	KEGG	hsa04640
Type I diabetes mellitus	KEGG	hsa04940
Asthma	KEGG	hsa05310
Autoimmune thyroid disease	KEGG	hsa05320
Systemic lupus erythematosus	KEGG	hsa05322
Allograft rejection	KEGG	hsa05330
Graft-versus-host disease	KEGG	hsa05332
Viral myocarditis	KEGG	hsa05416
Intestinal immune network for IgA production	KEGG	ko04672
Intestinal immune network for IgA production	KEGG	hsa04672
Leishmaniasis	KEGG	ko05140
Leishmaniasis	KEGG	hsa05140
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Toxoplasmosis	KEGG	ko05145
Toxoplasmosis	KEGG	hsa05145
Staphylococcus aureus infection	KEGG	ko05150
Staphylococcus aureus infection	KEGG	hsa05150
Rheumatoid arthritis	KEGG	ko05323
Rheumatoid arthritis	KEGG	hsa05323
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
Inflammatory bowel disease (IBD)	KEGG	hsa05321
Inflammatory bowel disease (IBD)	KEGG	ko05321
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
TCR signaling	REACTOME	R-HSA-202403
Phosphorylation of CD3 and TCR zeta chains	REACTOME	R-HSA-202427
Translocation of ZAP-70 to Immunological synapse	REACTOME	R-HSA-202430
Generation of second messenger molecules	REACTOME	R-HSA-202433
Downstream TCR signaling	REACTOME	R-HSA-202424
Costimulation by the CD28 family	REACTOME	R-HSA-388841
PD-1 signaling	REACTOME	R-HSA-389948
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Interferon Signaling	REACTOME	R-HSA-913531
Interferon gamma signaling	REACTOME	R-HSA-877300
Th1 and Th2 cell differentiation	KEGG	ko04658
Th1 and Th2 cell differentiation	KEGG	hsa04658
Th17 cell differentiation	KEGG	ko04659
Th17 cell differentiation	KEGG	hsa04659

References

Pubmed ID	Year	Title	Citations
37950809	2024	Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis.	1
37950809	2024	Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis.	1
31605414	2020	Association of GWAS-supported noncoding area loci rs404860, rs3117098, and rs7775228 with asthma in Chinese Zhuang population.	2
31605414	2020	Association of GWAS-supported noncoding area loci rs404860, rs3117098, and rs7775228 with asthma in Chinese Zhuang population.	2
23257407	2013	HLA variants rs9271366 and rs9275328 are associated with systemic lupus erythematosus susceptibility in Malays and Chinese.	4
23257407	2013	HLA variants rs9271366 and rs9275328 are associated with systemic lupus erythematosus susceptibility in Malays and Chinese.	4
22407913	2012	HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule.	20
22407913	2012	HLA-DQA2 and HLA-DQB2 genes are specifically expressed in human Langerhans cells and encode a new HLA class II molecule.	20
22096524	2011	Evidence for more than one Parkinson's disease-associated variant within the HLA region.	36
22125590	2011	Psoriasis regression analysis of MHC loci identifies shared genetic variants with vitiligo.	23
22096524	2011	Evidence for more than one Parkinson's disease-associated variant within the HLA region.	36
22125590	2011	Psoriasis regression analysis of MHC loci identifies shared genetic variants with vitiligo.	23
20159242	2010	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	132
20159242	2010	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	132
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	37

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64331