HLA-DMA (major histocompatibility complex, class II, DM alpha)

2016-10-01 Affiliation

Identity

HGNC

HLA-DMA

LOCATION

6p21.32

LOCUSID

3108

ALIAS

D6S222E,DMA,HLADM,RING6

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: 3108
MIM: 142855
HGNC: 4934
Ensembl: ENSG00000204257

Variants:

dbSNP: 3108
ClinVar: 3108
TCGA: ENSG00000204257
COSMIC: HLA-DMA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204257	ENST00000374843	P28067
ENSG00000204257	ENST00000374843	Q31604
ENSG00000204257	ENST00000374843	Q6ICR9
ENSG00000204257	ENST00000395303	Q5SP00
ENSG00000204257	ENST00000395305	A2AAT8
ENSG00000204257	ENST00000422832	F6S093
ENSG00000204257	ENST00000456800	H0Y732

Expression (GTEx)

100

150

200

250

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
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
MHC class II antigen presentation	REACTOME	R-HSA-2132295
Th1 and Th2 cell differentiation	KEGG	ko04658
Th1 and Th2 cell differentiation	KEGG	hsa04658
Th17 cell differentiation	KEGG	ko04659
Th17 cell differentiation	KEGG	hsa04659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19115949	2009	Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).	119
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
23260142	2012	Crystal structure of the HLA-DM-HLA-DR1 complex defines mechanisms for rapid peptide selection.	71
15723810	2005	Spatial separation of HLA-DM/HLA-DR interactions within MIIC and phagosome-induced immune escape.	53
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
20408893	2010	DM influences the abundance of major histocompatibility complex class II alleles with low affinity for class II-associated invariant chain peptides via multiple mechanisms.	15
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
26610428	2015	pH-susceptibility of HLA-DO tunes DO/DM ratios to regulate HLA-DM catalytic activity.	11
25505276	2015	HLA-DMA polymorphisms differentially affect MHC class II peptide loading.	10

Citation

Dessen P

HLA-DMA (major histocompatibility complex, class II, DM alpha)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56421/hla-dma