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

Gene

• Entrez ID: 3108
• Gene name: Major histocompatibility complex, class II, DM alpha
• Gene symbol: HLA-DMA
• Synonyms (NCBI Gene): D6S222E, DMA, HLADM, RING6
• Chromosome: 6
• Chromosome location: 6p21.32
• Summary: HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018266	hsa-miR-335-5p	Microarray	18185580
MIRT2010988	hsa-miR-4642	CLIP-seq
MIRT2010989	hsa-miR-4720-5p	CLIP-seq
MIRT2010990	hsa-miR-4799-3p	CLIP-seq
MIRT2546421	hsa-miR-3151	CLIP-seq
MIRT2546422	hsa-miR-3202	CLIP-seq
MIRT2546423	hsa-miR-4265	CLIP-seq
MIRT2546424	hsa-miR-4271	CLIP-seq
MIRT2546425	hsa-miR-4296	CLIP-seq
MIRT2546426	hsa-miR-4312	CLIP-seq
MIRT2546427	hsa-miR-4322	CLIP-seq
MIRT2546428	hsa-miR-4447	CLIP-seq
MIRT2546429	hsa-miR-4472	CLIP-seq
MIRT2546430	hsa-miR-4725-3p	CLIP-seq
MIRT2546431	hsa-miR-4747-5p	CLIP-seq
MIRT2546432	hsa-miR-4764-5p	CLIP-seq
MIRT2546433	hsa-miR-491-5p	CLIP-seq
MIRT2546434	hsa-miR-625	CLIP-seq
MIRT2546421	hsa-miR-3151	CLIP-seq
MIRT2546422	hsa-miR-3202	CLIP-seq
MIRT2546423	hsa-miR-4265	CLIP-seq
MIRT2546424	hsa-miR-4271	CLIP-seq
MIRT2546425	hsa-miR-4296	CLIP-seq
MIRT2546426	hsa-miR-4312	CLIP-seq
MIRT2546427	hsa-miR-4322	CLIP-seq
MIRT2546428	hsa-miR-4447	CLIP-seq
MIRT2546429	hsa-miR-4472	CLIP-seq
MIRT2546430	hsa-miR-4725-3p	CLIP-seq
MIRT2546431	hsa-miR-4747-5p	CLIP-seq
MIRT2546432	hsa-miR-4764-5p	CLIP-seq
MIRT2546433	hsa-miR-491-5p	CLIP-seq
MIRT2546434	hsa-miR-625	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Activation	9300700
CIITA	Unknown	7495736
RFX5	Unknown	11258423;7495736
RFXANK	Unknown	11258423
RFXAP	Unknown	11258423

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IBA
GO:0002503	Process	Peptide antigen assembly with MHC class II protein complex	IDA	7606781, 9075930, 22733780, 23260142
GO:0002504	Process	Antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	IEA
GO:0005515	Function	Protein binding	IPI	21131964, 23222639
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	9075930
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0006955	Process	Immune response	IEA
GO:0009986	Component	Cell surface	IDA	22247549
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IEA
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA
GO:0023026	Function	MHC class II protein complex binding	IBA
GO:0023026	Function	MHC class II protein complex binding	IDA	9075930, 22733780, 23260142
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	9075930
GO:0031902	Component	Late endosome membrane	IEA
GO:0042605	Function	Peptide antigen binding	IBA
GO:0042613	Component	MHC class II protein complex	IBA
GO:0042613	Component	MHC class II protein complex	IDA	7606781, 22247549, 22733780
GO:0042613	Component	MHC class II protein complex	IEA
GO:0050778	Process	Positive regulation of immune response	IBA
GO:0050870	Process	Positive regulation of T cell activation	IBA

Other IDs

• MIM: 142855
• HGNC: 4934
• e!Ensembl: ENSG00000204257

Protein

• UniProt ID: P28067
• Protein name: HLA class II histocompatibility antigen, DM alpha chain (MHC class II antigen DMA) (Really interesting new gene 6 protein)
• Protein function: Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the inter
• PDB: 1HDM, 2BC4, 4FQX, 4GBX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00993	MHC_II_alpha	41 → 118	Class II histocompatibility antigen, alpha domain	Domain
  PF07654	C1-set	129 → 208	Immunoglobulin C1-set domain	Domain

• Sequence:

  MGHEQNQGAALLQMLPLLWLLPHSWAVPEAPTPMWPDDLQNHTFLHTVYCQDGSPSVGLS
  EAYDEDQLFFFDFSQNTRVPRLPEFADWAQEQGDAPAILFDKEFCEWMIQQIGPKLDGKI
  PVSRGFPIAEVFTLKPLEFGKPNTLVCFVSNLFPPMLTVNWHDHSVPVEGFGPTFVSAVD
  GLSFQAFSYLNFTPEPSDIFSCIVTHEIDRYTAIAYWVPRNALPSDLLENVLCGVAFGLG
  VLGIIVGIVLIIYFRKPCSGD

• Sequence length: 261

Pathways

KEGG:

Phagosome
Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Intestinal immune network for IgA production
Type I diabetes mellitus
Leishmaniasis
Toxoplasmosis
Staphylococcus aureus infection
Tuberculosis
Influenza A
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Asthma
Autoimmune thyroid disease
Inflammatory bowel disease
Systemic lupus erythematosus
Rheumatoid arthritis
Allograft rejection
Graft-versus-host disease
Viral myocarditis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, OCCUPATIONAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	31777097		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	10375868		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	30552173		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10427471		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29121268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30132044		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30132044		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29873257		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24599568		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	24599568		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	18348411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	18348411		★☆☆☆☆ Found in Text Mining only
Dermatitis, Occupational	Dermatitis	CTD_human_DG	16737583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	10321963		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17890315		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17890315		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10519369		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17890315, 29742293		★☆☆☆☆ Found in Text Mining only
Diffuse Scleroderma	Scleroderma	BEFREE	9225871		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	28393437		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22745752		★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	BEFREE	28393437		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	17890315		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	29421402		★☆☆☆☆ Found in Text Mining only
Industrial Dermatosis	Industrial Dermatosis	CTD_human_DG	16737583		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29179468		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24599568		★☆☆☆☆ Found in Text Mining only
Lupus anticoagulant disorder	Lupus anticoagulant	BEFREE	15547089		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10493671, 12858445, 15547089, 9487257		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	12858445		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30132044		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23353816		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	9271826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31104089		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11053239, 22095615, 28435051, 28883728, 30600823, 31147028		★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	15547089		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	147699		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	12673126		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10321961, 10371284, 10689120, 11881821, 15547082, 23582631, 9058646, 9153546, 9676759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoidosis	Sarcoidosis	BEFREE	8872169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	25364289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 29121268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin lesion	Skin Lesion	BEFREE	17548696, 29421402		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	9225871		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	17134727, 31363818		★☆☆☆☆ Found in Text Mining only