HLA-DOA (major histocompatibility complex, class II, DO alpha)

2007-02-01  

Identity

HGNC
HLA-DOA
LOCATION
6p21.32
LOCUSID
3111
ALIAS
HLA-DNA,HLA-DZA,HLADZ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3111
MIM: 142930
HGNC: 4936
Ensembl: ENSG00000204252

Variants:

dbSNP: 3111
ClinVar: 3111
TCGA: ENSG00000204252
COSMIC: HLA-DOA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204252ENST00000229829P06340
ENSG00000204252ENST00000229829X5CF87
ENSG00000204252ENST00000229829A0A1V0E3Q8
ENSG00000204252ENST00000229829A0A1V0E3S6
ENSG00000204252ENST00000229829A0A1V0E3R8
ENSG00000204252ENST00000229829A0A1V0E3Q1
ENSG00000204252ENST00000229829A0A1V0E3N6
ENSG00000204252ENST00000229829A0A1V0E3Q3
ENSG00000204252ENST00000229829A0A1V0E3P3
ENSG00000204252ENST00000229829A0A1V0E3N7
ENSG00000204252ENST00000229829A0A1V0E3Q4
ENSG00000204252ENST00000229829A0A1V0E3P8
ENSG00000204252ENST00000229829A0A1V0E3R4
ENSG00000204252ENST00000229829A0A1V0E3S4
ENSG00000204252ENST00000229829A0A1V0E3R0
ENSG00000204252ENST00000229829A0A1V0E3R3
ENSG00000204252ENST00000229829A0A1V0E3N1
ENSG00000204252ENST00000229829A0A1V0E3N3
ENSG00000204252ENST00000229829A0A1V0E3P0
ENSG00000204252ENST00000229829A0A1V0E3R6
ENSG00000204252ENST00000229829A0A1V0E3Q5
ENSG00000204252ENST00000229829A0A1V0E3Q7
ENSG00000204252ENST00000229829A0A1V0E3P1
ENSG00000204252ENST00000229829A0A1V0E3M7
ENSG00000204252ENST00000229829A0A1V0E3P9
ENSG00000204252ENST00000229829A0A1V0E3P6
ENSG00000204252ENST00000229829A0A1V0E3Q2
ENSG00000204252ENST00000229829A0A1V0E3T1
ENSG00000204252ENST00000229829A0A1V0E3S7
ENSG00000204252ENST00000229829A0A1V0E3S0
ENSG00000204252ENST00000229829A0A1V0E3Q6
ENSG00000204252ENST00000374813F6WU08

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Antigen processing and presentationKEGGko04612
Hematopoietic cell lineageKEGGko04640
Type I diabetes mellitusKEGGko04940
AsthmaKEGGko05310
Autoimmune thyroid diseaseKEGGko05320
Systemic lupus erythematosusKEGGko05322
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
Cell adhesion molecules (CAMs)KEGGhsa04514
Antigen processing and presentationKEGGhsa04612
Hematopoietic cell lineageKEGGhsa04640
Type I diabetes mellitusKEGGhsa04940
AsthmaKEGGhsa05310
Autoimmune thyroid diseaseKEGGhsa05320
Systemic lupus erythematosusKEGGhsa05322
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
Viral myocarditisKEGGhsa05416
Intestinal immune network for IgA productionKEGGko04672
Intestinal immune network for IgA productionKEGGhsa04672
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
Influenza AKEGGko05164
Influenza AKEGGhsa05164
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
MHC class II antigen presentationREACTOMER-HSA-2132295
Th1 and Th2 cell differentiationKEGGko04658
Th1 and Th2 cell differentiationKEGGhsa04658
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
232226392013HLA-DO acts as a substrate mimic to inhibit HLA-DM by a competitive mechanism.55
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
152658822004Ectopic expression of HLA-DO in mouse dendritic cells diminishes MHC class II antigen presentation.30
158476542005A flexible array format for large-scale, rapid blood group DNA typing.30
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
227337802012Mapping the HLA-DO/HLA-DM complex by FRET and mutagenesis.22
274867782016Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
266104282015pH-susceptibility of HLA-DO tunes DO/DM ratios to regulate HLA-DM catalytic activity.11

Citation

Dessen P

HLA-DOA (major histocompatibility complex, class II, DO alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43624/hla-doa