Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias_symbol (synonym)D6S221E
RING7
Other alias
HGNC (Hugo) HLA-DMB
LocusID (NCBI) 3109
Atlas_Id 50693
Location 6p21.32  [Link to chromosome band 6p21]
Location_base_pair Starts at 32934629 and ends at 32941070 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)
HLA-DMB (6p21.32) / HLA-DMB (6p21.32)

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

 


External links

Nomenclature
HGNC (Hugo)HLA-DMB   4935
Cards
Entrez_Gene (NCBI)HLA-DMB  3109  major histocompatibility complex, class II, DM beta
AliasesD6S221E; RING7
GeneCards (Weizmann)HLA-DMB
Ensembl hg19 (Hinxton)ENSG00000242574 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000242574 [Gene_View]  ENSG00000242574 [Sequence]  chr6:32934629-32941070 [Contig_View]  HLA-DMB [Vega]
ICGC DataPortalENSG00000242574
TCGA cBioPortalHLA-DMB
AceView (NCBI)HLA-DMB
Genatlas (Paris)HLA-DMB
WikiGenes3109
SOURCE (Princeton)HLA-DMB
Genetics Home Reference (NIH)HLA-DMB
Genomic and cartography
GoldenPath hg38 (UCSC)HLA-DMB  -     chr6:32934629-32941070 -  6p21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HLA-DMB  -     6p21.32   [Description]    (hg19-Feb_2009)
EnsemblHLA-DMB - 6p21.32 [CytoView hg19]  HLA-DMB - 6p21.32 [CytoView hg38]
Mapping of homologs : NCBIHLA-DMB [Mapview hg19]  HLA-DMB [Mapview hg38]
OMIM142856   
Gene and transcription
Genbank (Entrez)AB209577 AB362554 AB362555 AB362556 AK295872
RefSeq transcript (Entrez)NM_002118
RefSeq genomic (Entrez)NC_000006 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)HLA-DMB
Cluster EST : UnigeneHs.351279 [ NCBI ]
CGAP (NCI)Hs.351279
Alternative Splicing GalleryENSG00000242574
Gene ExpressionHLA-DMB [ NCBI-GEO ]   HLA-DMB [ EBI - ARRAY_EXPRESS ]   HLA-DMB [ SEEK ]   HLA-DMB [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-DMB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3109
GTEX Portal (Tissue expression)HLA-DMB
Human Protein AtlasENSG00000242574-HLA-DMB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28068   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28068  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28068
Splice isoforms : SwissVarP28068
PhosPhoSitePlusP28068
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_b_N   
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_II_beta (PF00969)   
Domain families : Pfam (NCBI)pfam07654    pfam00969   
Domain families : Smart (EMBL)IGc1 (SM00407)  MHC_II_beta (SM00921)  
Conserved Domain (NCBI)HLA-DMB
DMDM Disease mutations3109
Blocks (Seattle)HLA-DMB
PDB (SRS)1HDM    2BC4    4FQX    4GBX    4I0P   
PDB (PDBSum)1HDM    2BC4    4FQX    4GBX    4I0P   
PDB (IMB)1HDM    2BC4    4FQX    4GBX    4I0P   
PDB (RSDB)1HDM    2BC4    4FQX    4GBX    4I0P   
Structural Biology KnowledgeBase1HDM    2BC4    4FQX    4GBX    4I0P   
SCOP (Structural Classification of Proteins)1HDM    2BC4    4FQX    4GBX    4I0P   
CATH (Classification of proteins structures)1HDM    2BC4    4FQX    4GBX    4I0P   
SuperfamilyP28068
Human Protein Atlas [tissue]ENSG00000242574-HLA-DMB [tissue]
Peptide AtlasP28068
HPRD00831
IPIIPI00000793   IPI01022004   IPI00852992   IPI00852916   IPI00783672   IPI00640646   IPI00791145   IPI00792805   IPI00789695   IPI00792348   IPI00789115   
Protein Interaction databases
DIP (DOE-UCLA)P28068
IntAct (EBI)P28068
FunCoupENSG00000242574
BioGRIDHLA-DMB
STRING (EMBL)HLA-DMB
ZODIACHLA-DMB
Ontologies - Pathways
QuickGOP28068
Ontology : AmiGOMHC class II protein complex assembly  peptide antigen assembly with MHC class II protein complex  protein binding  lysosomal membrane  immune response  integral component of membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  late endosome membrane  positive regulation of T cell proliferation  MHC class II protein complex  positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell  
Ontology : EGO-EBIMHC class II protein complex assembly  peptide antigen assembly with MHC class II protein complex  protein binding  lysosomal membrane  immune response  integral component of membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  antigen processing and presentation of exogenous peptide antigen via MHC class II  MHC class II protein complex binding  late endosome membrane  positive regulation of T cell proliferation  MHC class II protein complex  positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell  
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-DMB
Atlas of Cancer Signalling NetworkHLA-DMB
Wikipedia pathwaysHLA-DMB
Orthology - Evolution
OrthoDB3109
GeneTree (enSembl)ENSG00000242574
Phylogenetic Trees/Animal Genes : TreeFamHLA-DMB
HOVERGENP28068
HOGENOMP28068
Homologs : HomoloGeneHLA-DMB
Homology/Alignments : Family Browser (UCSC)HLA-DMB
Gene fusions - Rearrangements
Fusion : QuiverHLA-DMB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLA-DMB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-DMB
dbVarHLA-DMB
ClinVarHLA-DMB
1000_GenomesHLA-DMB 
Exome Variant ServerHLA-DMB
ExAC (Exome Aggregation Consortium)ENSG00000242574
GNOMAD BrowserENSG00000242574
Varsome BrowserHLA-DMB
Genetic variants : HAPMAP3109
Genomic Variants (DGV)HLA-DMB [DGVbeta]
DECIPHERHLA-DMB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHLA-DMB 
Mutations
ICGC Data PortalHLA-DMB 
TCGA Data PortalHLA-DMB 
Broad Tumor PortalHLA-DMB
OASIS PortalHLA-DMB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHLA-DMB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHLA-DMB
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-DMB
DgiDB (Drug Gene Interaction Database)HLA-DMB
DoCM (Curated mutations)HLA-DMB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-DMB (select a term)
intoGenHLA-DMB
Cancer3DHLA-DMB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142856   
Orphanet
DisGeNETHLA-DMB
MedgenHLA-DMB
Genetic Testing Registry HLA-DMB
NextProtP28068 [Medical]
TSGene3109
GENETestsHLA-DMB
Target ValidationHLA-DMB
Huge Navigator HLA-DMB [HugePedia]
snp3D : Map Gene to Disease3109
BioCentury BCIQHLA-DMB
ClinGenHLA-DMB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3109
Chemical/Pharm GKB GenePA35059
Clinical trialHLA-DMB
Miscellaneous
canSAR (ICR)HLA-DMB (select the gene name)
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-DMB
EVEXHLA-DMB
GoPubMedHLA-DMB
iHOPHLA-DMB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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

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