HLA-DMB (major histocompatibility complex, class II, DM beta)

2009-03-01 Affiliation

Identity

HGNC

HLA-DMB

LOCATION

6p21.32

LOCUSID

3109

ALIAS

D6S221E,RING7

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: 3109
MIM: 142856
HGNC: 4935
Ensembl: ENSG00000242574

Variants:

dbSNP: 3109
ClinVar: 3109
TCGA: ENSG00000242574
COSMIC: HLA-DMB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000242574	ENST00000414017	H0Y7A2
ENSG00000242574	ENST00000418107	P28068
ENSG00000242574	ENST00000418107	A0A1V0E3P2
ENSG00000242574	ENST00000438510	H0Y4B8

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
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
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
19047092	2008	Increased HLA-DMB expression in the tumor epithelium is associated with increased CTL infiltration and improved prognosis in advanced-stage serous ovarian cancer.	41
19767569	2009	Cutting edge: HLA-DM functions through a mechanism that does not require specific conserved hydrogen bonds in class II MHC-peptide complexes.	28
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
20038641	2010	Cutting edge: HLA-DM-mediated peptide exchange functions normally on MHC class II-peptide complexes that have been weakened by elimination of a conserved hydrogen bond.	23
18506881	2008	HLA-DM negatively regulates HLA-DR4-restricted collagen pathogenic peptide presentation and T cell recognition.	21
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

Citation

Dessen P

HLA-DMB (major histocompatibility complex, class II, DM beta)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50693/hla-dmb