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

Identity

Alias_symbol (synonym)D6S222E
RING6
Other aliasDMA
HLADM
HGNC (Hugo) HLA-DMA
LocusID (NCBI) 3108
Atlas_Id 56421
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 32948614 and ends at 32953122 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BRPF3 (6p21.31) / HLA-DMA (6p21.32)HLA-DMA (6p21.32) / DBT (1p21.2)HLA-DMA (6p21.32) / SLC20A1 (2q13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  BRPF3/HLA-DMA (6p21)


External links

Nomenclature
HGNC (Hugo)HLA-DMA   4934
Cards
Entrez_Gene (NCBI)HLA-DMA  3108  major histocompatibility complex, class II, DM alpha
AliasesD6S222E; DMA; HLADM; RING6
GeneCards (Weizmann)HLA-DMA
Ensembl hg19 (Hinxton)ENSG00000204257 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204257 [Gene_View]  ENSG00000204257 [Sequence]  chr6:32948614-32953122 [Contig_View]  HLA-DMA [Vega]
ICGC DataPortalENSG00000204257
TCGA cBioPortalHLA-DMA
AceView (NCBI)HLA-DMA
Genatlas (Paris)HLA-DMA
WikiGenes3108
SOURCE (Princeton)HLA-DMA
Genetics Home Reference (NIH)HLA-DMA
Genomic and cartography
GoldenPath hg38 (UCSC)HLA-DMA  -     chr6:32948614-32953122 -  6p21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HLA-DMA  -     6p21.32   [Description]    (hg19-Feb_2009)
EnsemblHLA-DMA - 6p21.32 [CytoView hg19]  HLA-DMA - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHLA-DMA [Mapview hg19]  HLA-DMA [Mapview hg38]
OMIM142855   
Gene and transcription
Genbank (Entrez)AA649861 AK291858 AK298081 AU100342 BC011447
RefSeq transcript (Entrez)NM_006120
RefSeq genomic (Entrez)NC_000006 NG_012006 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)HLA-DMA
Cluster EST : UnigeneHs.728759 [ NCBI ]
CGAP (NCI)Hs.728759
Alternative Splicing GalleryENSG00000204257
Gene ExpressionHLA-DMA [ NCBI-GEO ]   HLA-DMA [ EBI - ARRAY_EXPRESS ]   HLA-DMA [ SEEK ]   HLA-DMA [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-DMA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3108
GTEX Portal (Tissue expression)HLA-DMA
Human Protein AtlasENSG00000204257-HLA-DMA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28067   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28067  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28067
Splice isoforms : SwissVarP28067
PhosPhoSitePlusP28067
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I/II-like_Ag-recog    MHC_II_a/b_N    MHC_II_a_N   
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_II_alpha (PF00993)   
Domain families : Pfam (NCBI)pfam07654    pfam00993   
Domain families : Smart (EMBL)IGc1 (SM00407)  MHC_II_alpha (SM00920)  
Conserved Domain (NCBI)HLA-DMA
DMDM Disease mutations3108
Blocks (Seattle)HLA-DMA
PDB (SRS)1HDM    2BC4    4FQX    4GBX   
PDB (PDBSum)1HDM    2BC4    4FQX    4GBX   
PDB (IMB)1HDM    2BC4    4FQX    4GBX   
PDB (RSDB)1HDM    2BC4    4FQX    4GBX   
Structural Biology KnowledgeBase1HDM    2BC4    4FQX    4GBX   
SCOP (Structural Classification of Proteins)1HDM    2BC4    4FQX    4GBX   
CATH (Classification of proteins structures)1HDM    2BC4    4FQX    4GBX   
SuperfamilyP28067
Human Protein Atlas [tissue]ENSG00000204257-HLA-DMA [tissue]
Peptide AtlasP28067
HPRD00830
IPIIPI00291924   IPI00921825   IPI00894479   IPI00383408   IPI00101355   IPI00893988   IPI00893623   IPI00893609   IPI00894356   IPI01013514   IPI00791654   IPI00640687   IPI00892544   IPI00040779   
Protein Interaction databases
DIP (DOE-UCLA)P28067
IntAct (EBI)P28067
FunCoupENSG00000204257
BioGRIDHLA-DMA
STRING (EMBL)HLA-DMA
ZODIACHLA-DMA
Ontologies - Pathways
QuickGOP28067
Ontology : AmiGOpeptide antigen assembly with MHC class II protein complex  lysosomal membrane  immune response  cell surface  membrane  integral component of membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  late endosome membrane  MHC class II protein complex  intracellular membrane-bounded organelle  
Ontology : EGO-EBIpeptide antigen assembly with MHC class II protein complex  lysosomal membrane  immune response  cell surface  membrane  integral component of membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  late endosome membrane  MHC class II protein complex  intracellular membrane-bounded organelle  
Pathways : KEGGPhagosome    Cell adhesion molecules (CAMs)    Antigen processing and presentation    Intestinal immune network for IgA production    Type I diabetes mellitus    Leishmaniasis    Toxoplasmosis    Staphylococcus aureus infection    Tuberculosis    Influenza A    HTLV-I infection    Herpes simplex infection    Asthma    Autoimmune thyroid disease    Inflammatory bowel disease (IBD)    Systemic lupus erythematosus    Rheumatoid arthritis    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
NDEx NetworkHLA-DMA
Atlas of Cancer Signalling NetworkHLA-DMA
Wikipedia pathwaysHLA-DMA
Orthology - Evolution
OrthoDB3108
GeneTree (enSembl)ENSG00000204257
Phylogenetic Trees/Animal Genes : TreeFamHLA-DMA
HOVERGENP28067
HOGENOMP28067
Homologs : HomoloGeneHLA-DMA
Homology/Alignments : Family Browser (UCSC)HLA-DMA
Gene fusions - Rearrangements
Fusion : QuiverHLA-DMA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLA-DMA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-DMA
dbVarHLA-DMA
ClinVarHLA-DMA
1000_GenomesHLA-DMA 
Exome Variant ServerHLA-DMA
ExAC (Exome Aggregation Consortium)ENSG00000204257
GNOMAD BrowserENSG00000204257
Varsome BrowserHLA-DMA
Genetic variants : HAPMAP3108
Genomic Variants (DGV)HLA-DMA [DGVbeta]
DECIPHERHLA-DMA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHLA-DMA 
Mutations
ICGC Data PortalHLA-DMA 
TCGA Data PortalHLA-DMA 
Broad Tumor PortalHLA-DMA
OASIS PortalHLA-DMA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHLA-DMA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHLA-DMA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HLA-DMA
DgiDB (Drug Gene Interaction Database)HLA-DMA
DoCM (Curated mutations)HLA-DMA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-DMA (select a term)
intoGenHLA-DMA
Cancer3DHLA-DMA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142855   
Orphanet
DisGeNETHLA-DMA
MedgenHLA-DMA
Genetic Testing Registry HLA-DMA
NextProtP28067 [Medical]
TSGene3108
GENETestsHLA-DMA
Target ValidationHLA-DMA
Huge Navigator HLA-DMA [HugePedia]
snp3D : Map Gene to Disease3108
BioCentury BCIQHLA-DMA
ClinGenHLA-DMA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3108
Chemical/Pharm GKB GenePA35058
Clinical trialHLA-DMA
Miscellaneous
canSAR (ICR)HLA-DMA (select the gene name)
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-DMA
EVEXHLA-DMA
GoPubMedHLA-DMA
iHOPHLA-DMA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:11:08 CET 2018

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