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

2014-11-01

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
Adaptive Immune System	REACTOME	R-HSA-1280218
Allograft rejection	KEGG	ko05330
Allograft rejection	KEGG	hsa05330
Antigen processing and presentation	KEGG	ko04612
Antigen processing and presentation	KEGG	hsa04612
Asthma	KEGG	ko05310
Asthma	KEGG	hsa05310
Autoimmune thyroid disease	KEGG	ko05320
Autoimmune thyroid disease	KEGG	hsa05320
Cell adhesion molecules (CAMs)	KEGG	ko04514

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References

Pubmed ID	Year	Title	Citations
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
22096524	2011	Evidence for more than one Parkinson's disease-associated variant within the HLA region.	36
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
22125590	2011	Psoriasis regression analysis of MHC loci identifies shared genetic variants with vitiligo.	23
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
23257407	2013	HLA variants rs9271366 and rs9275328 are associated with systemic lupus erythematosus susceptibility in Malays and Chinese.	4

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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/hla-dqa2-(major-histocompatibility-complex-class-ii-dq-alpha-2)