Human Gene HLA-DMB (uc011hfl.2) Description and Page Index
  Description: Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.
RefSeq Summary (NM_002118): HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U15085.1, AY645722.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025087 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,359,617-4,362,444 Size: 2,828 Total Exon Count: 2 Strand: -
Coding Region
   Position: chr6_mann_hap4:4,359,959-4,362,388 Size: 2,430 Coding Exon Count: 2 

Page IndexSequence and LinksGenetic AssociationsCTDMicroarrayRNA Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: HLA-DMB
CDC HuGE Published Literature: HLA-DMB
Positive Disease Associations: Multiple Sclerosis , psoriasis
Related Studies:
  1. Multiple Sclerosis
    David A Hafler et al. The New England journal of medicine 2007, Risk alleles for multiple sclerosis identified by a genomewide study., The New England journal of medicine. [PubMed 17660530]
    Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for multiple sclerosis.
  2. psoriasis
    Pyo CW 2003, Association of TAP and HLA-DM genes with psoriasis in Koreans., The Journal of investigative dermatology. 2003 Apr;120(4):616-22. [PubMed 12648225]
    In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.3056-0.202 Picture PostScript Text
3' UTR -89.01342-0.260 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  BC017508 - Homo sapiens major histocompatibility complex, class II, DM beta, mRNA (cDNA clone IMAGE:4852869), with apparent retained intron.
BC035650 - Homo sapiens major histocompatibility complex, class II, DM beta, mRNA (cDNA clone IMAGE:5576676), with apparent retained intron.
AB209577 - Homo sapiens mRNA for major histocompatibility complex, class II, DM beta precursor variant protein.
BC027175 - Homo sapiens major histocompatibility complex, class II, DM beta, mRNA (cDNA clone MGC:17194 IMAGE:4341639), complete cds.
U15085 - Human HLA-DMB mRNA, complete cds.
Z23139 - H.sapiens RING7 mRNA for HLA class II alpha chain-like product.
AY645722 - Homo sapiens MHC class II antigen (HLA-DMB) mRNA, complete cds.
AB362554 - Homo sapiens HLA-DMB mRNA for MHC class II antigen, partial cds, splicing variant 1.
AB362555 - Homo sapiens HLA-DMB mRNA for MHC class II antigen, partial cds, splicing variant 2.
AB362556 - Homo sapiens HLA-DMB mRNA for MHC class II antigen, partial cds, splicing variant 3.
DQ891141 - Synthetic construct clone IMAGE:100003771; FLH169680.01X; RZPDo839E1296D major histocompatibility complex, class II, DM beta (HLA-DMB) gene, encodes complete protein.
DQ894320 - Synthetic construct Homo sapiens clone IMAGE:100008780; FLH169676.01L; RZPDo839E1295D major histocompatibility complex, class II, DM beta (HLA-DMB) gene, encodes complete protein.
CR407606 - Homo sapiens full open reading frame cDNA clone RZPDo834A052D for gene HLA-DMB, major histocompatibility complex, class II, DM beta complete cds, without stopcodon.
AB590298 - Synthetic construct DNA, clone: pFN21AE2234, Homo sapiens HLA-DMB gene for major histocompatibility complex, class II, DM beta, without stop codon, in Flexi system.
CU693252 - Synthetic construct Homo sapiens gateway clone IMAGE:100016921 5' read HLA-DMB mRNA.
AK315979 - Homo sapiens cDNA, FLJ78878 complete cds, highly similar to HLA class II histocompatibility antigen, DMbeta chain precursor.
AK301017 - Homo sapiens cDNA FLJ51332 complete cds, highly similar to HLA class II histocompatibility antigen, DMbeta chain precursor.
AK295872 - Homo sapiens cDNA FLJ56696 complete cds, highly similar to HLA class II histocompatibility antigen, DMbeta chain precursor.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04612 - Antigen processing and presentation
hsa04672 - Intestinal immune network for IgA production
hsa04940 - Type I diabetes mellitus
hsa05140 - Leishmaniasis
hsa05310 - Asthma
hsa05320 - Autoimmune thyroid disease
hsa05322 - Systemic lupus erythematosus
hsa05330 - Allograft rejection
hsa05332 - Graft-versus-host disease
hsa05416 - Viral myocarditis

-  Other Names for This Gene
  Alternate Gene Symbols: AB362556, B0S7U8, B0S7U8_HUMAN, DAMA-91I23.7-007, NM_002118, NP_002109
UCSC ID: uc011hfl.2
RefSeq Accession: NM_002118

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB362556.1
exon count: 2CDS single in 3' UTR: no RNA size: 118
ORF size: 246CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 692.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 8
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.