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Aliases for HLA-DMB Gene

Aliases for HLA-DMB Gene

  • Major Histocompatibility Complex, Class II, DM Beta 2 3
  • RING7 3 4 6
  • Really Interesting New Gene 7 Protein 3 4
  • MHC Class II Antigen DMB 3 4
  • HLA Class II Histocompatibility Antigen, DM Beta Chain 3
  • Class II Histocompatibility Antigen, M Beta Chain 3
  • MHC Class II Antigen HLA-DM Beta Chain 3
  • MHC Class II HLA-DMB 3
  • D6S221E 3
  • DMB 4

External Ids for HLA-DMB Gene

Summaries for HLA-DMB Gene

Entrez Gene Summary for HLA-DMB Gene

  • 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]

GeneCards Summary for HLA-DMB Gene

HLA-DMB (Major Histocompatibility Complex, Class II, DM Beta) is a Protein Coding gene. Diseases associated with HLA-DMB include hiv-1. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway. An important paralog of this gene is HLA-DMA.

UniProtKB/Swiss-Prot for HLA-DMB Gene

  • 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 interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.

Gene Wiki entry for HLA-DMB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DMB Gene

Genomics for HLA-DMB Gene

Genomic Location for HLA-DMB Gene

Start:
32,934,629 bp from pter
End:
32,941,070 bp from pter
Size:
6,442 bases
Orientation:
Minus strand

Genomic View for HLA-DMB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HLA-DMB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for HLA-DMB Gene

Proteins for HLA-DMB Gene

  • Protein details for HLA-DMB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28068-DMB_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DM beta chain
    Protein Accession:
    P28068
    Secondary Accessions:
    • O77936
    • Q13012
    • Q29751
    • Q58ZE2
    • Q5SNZ8
    • Q5STC4
    • Q9XRX2

    Protein attributes for HLA-DMB Gene

    Size:
    263 amino acids
    Molecular mass:
    28943 Da
    Quaternary structure:
    • Heterodimer of an alpha chain (DMA) and a beta chain (DMB).

    Three dimensional structures from OCA and Proteopedia for HLA-DMB Gene

neXtProt entry for HLA-DMB Gene

Proteomics data for HLA-DMB Gene at MOPED

Post-translational modifications for HLA-DMB Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn110

Other Protein References for HLA-DMB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HLA-DMB Gene

Domains for HLA-DMB Gene

Gene Families for HLA-DMB Gene

HGNC:
  • C1SET :Immunoglobulin superfamily / C1-set domain containing
  • HLA :Histocompatibility complex

UniProtKB/Swiss-Prot:

DMB_HUMAN
Domain:
  • The YXXZ (Tyr-Xaa-Xaa-Zaa, where Zaa is a hydrophobic residue) motif mediates the targeting to the lysosomal compartments:
    • P28068
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.:
    • P28068
Family:
  • Belongs to the MHC class II family.:
    • P28068
genes like me logo Genes that share domains with HLA-DMB: view

Function for HLA-DMB Gene

Molecular function for HLA-DMB Gene

GENATLAS Biochemistry: HLA-DM,beta chain,class II related,expressed in B cell lysosomes,same as RING7
UniProtKB/Swiss-Prot 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 interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.

Gene Ontology (GO) - Molecular Function for HLA-DMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0023026 MHC class II protein complex binding IDA 22733780
genes like me logo Genes that share ontologies with HLA-DMB: view

Phenotypes for HLA-DMB Gene

genes like me logo Genes that share phenotypes with HLA-DMB: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for HLA-DMB Gene

Localization for HLA-DMB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DMB Gene

Late endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=Localizes to late endocytic compartment. Associates with lysosome membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLA-DMB Gene COMPARTMENTS Subcellular localization image for HLA-DMB gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
extracellular 3
plasma membrane 3
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HLA-DMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0031902 late endosome membrane IEA --
genes like me logo Genes that share ontologies with HLA-DMB: view

Pathways for HLA-DMB Gene

genes like me logo Genes that share pathways with HLA-DMB: view

Interacting Proteins for HLA-DMB Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000398890%0d%0a9606.ENSP00000363976%0d%0a
Selected Interacting proteins: P28068-DMB_HUMAN ENSP00000398890 for HLA-DMB Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for HLA-DMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002399 MHC class II protein complex assembly IMP 8139689
GO:0002503 peptide antigen assembly with MHC class II protein complex IDA 22733780
GO:0006955 immune response IEA --
GO:0019882 antigen processing and presentation --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with HLA-DMB: view

Compounds for HLA-DMB Gene

(1) Novoseek inferred chemical compound relationships for HLA-DMB Gene

Compound -log(P) Hits PubMed IDs
oligonucleotide 18.3 3
genes like me logo Genes that share compounds with HLA-DMB: view

Transcripts for HLA-DMB Gene

Unigene Clusters for HLA-DMB Gene

Major histocompatibility complex, class II, DM beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DMB Gene

No ASD Table

Relevant External Links for HLA-DMB Gene

GeneLoc Exon Structure for
HLA-DMB
ECgene alternative splicing isoforms for
HLA-DMB

Expression for HLA-DMB Gene

mRNA expression in normal human tissues for HLA-DMB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HLA-DMB Gene

This gene is overexpressed in Spleen (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HLA-DMB Gene

SOURCE GeneReport for Unigene cluster for HLA-DMB Gene Hs.351279

genes like me logo Genes that share expressions with HLA-DMB: view

Orthologs for HLA-DMB Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-DMB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PATR-DMB 36
  • 99.11 (n)
  • 98.1 (a)
PATR-DMB 37
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BOLA-DMB 36
  • 79.89 (n)
  • 74.9 (a)
HLA-DMB 37
  • 74 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 78 (a)
OneToMany
DLA-DMB 36
  • 82.45 (n)
  • 77.14 (a)
mouse
(Mus musculus)
Mammalia H2-DMb1 16
H2-DMb1 37
  • 72 (a)
ManyToMany
H2-DMb2 36
  • 79.08 (n)
  • 73.68 (a)
H2-DMb2 37
  • 72 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 37
  • 29 (a)
ManyToMany
-- 37
  • 28 (a)
ManyToMany
BLB1 37
  • 25 (a)
ManyToMany
BMA2 36
  • 54.18 (n)
  • 40.33 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 26 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495183 36
  • 47.12 (n)
  • 34.6 (a)
zebrafish
(Danio rerio)
Actinopterygii mhc2dab 37
  • 22 (a)
ManyToMany
mhc2dbb 37
  • 25 (a)
ManyToMany
si:busm1-104n07.3 37
  • 20 (a)
ManyToMany
si:busm1-194e12.12 37
  • 21 (a)
ManyToMany
si:busm1-228j01.4 37
  • 23 (a)
ManyToMany
si:busm1-228j01.6 37
  • 19 (a)
ManyToMany
si:dkey-33b17.3 37
  • 19 (a)
ManyToMany
si:dkey-33b17.3 37
  • 19 (a)
ManyToMany
si:zfos-2070c2.3 37
  • 33 (a)
ManyToMany
wu:fd58b11 37
  • 22 (a)
ManyToMany
Species with no ortholog for HLA-DMB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HLA-DMB Gene

ENSEMBL:
Gene Tree for HLA-DMB (if available)
TreeFam:
Gene Tree for HLA-DMB (if available)

Paralogs for HLA-DMB Gene

genes like me logo Genes that share paralogs with HLA-DMB: view

Variants for HLA-DMB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DMB Gene

P28068-DMB_HUMAN
The following alleles of DMB are known: DMB*01:01, DMB*01:02, DMB*01:03, DMB*01:04 (DMB3.4), DMB*01:05, DMB*01:06, and DMB*01:07. The sequence shown is that of DMB*01:01

Sequence variations from dbSNP and Humsavar for HLA-DMB Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10751 -- 32,934,806(-) AGCAA(C/T)TTGGG utr-variant-3-prime
rs23544 -- 32,935,860(-) GATGG(A/G)TTCCC intron-variant
rs68600 -- 32,935,947(-) CTTTG(A/G)GGTAA intron-variant
rs151719 -- 32,936,123(-) TGTAG(A/G)AGGTA intron-variant
rs168955 -- 32,942,200(+) cattt(C/T)ctgct upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HLA-DMB Gene

Variant ID Type Subtype PubMed ID
nsv830633 CNV Loss 17160897
nsv483081 CNV Loss 15286789
dgv1937e1 CNV Complex 17122850
nsv819732 CNV Loss 19587683
esv33619 CNV Gain 17666407

Relevant External Links for HLA-DMB Gene

HapMap Linkage Disequilibrium report
HLA-DMB
Human Gene Mutation Database (HGMD)
HLA-DMB
Locus Specific Mutation Databases (LSDB)
HLA-DMB

Disorders for HLA-DMB Gene

(1) MalaCards Diseases for HLA-DMB Gene

Search for HLA-DMB Gene in MalaCards »

(4) Novoseek inferred disease relationships for HLA-DMB Gene

Disease -log(P) Hits PubMed IDs
rheumatoid arthritis 41.2 7
genetic susceptibility 40.1 1
diabetes mellitus insulin-dependent 18 1
lupus erythematosus systemic 9.37 3

Relevant External Links for HLA-DMB

Genetic Association Database (GAD)
HLA-DMB
Human Genome Epidemiology (HuGE) Navigator
HLA-DMB
genes like me logo Genes that share disorders with HLA-DMB: view

No data available for UniProtKB/Swiss-Prot for HLA-DMB Gene

Publications for HLA-DMB Gene

  1. Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese. (PMID: 11775239) Zhu X. … Wang F. (Chin. Med. J. 2000) 3 23 49
  2. Association of TAP and HLA-DM genes with psoriasis in Koreans. (PMID: 12648225) Pyo C.W. … Kim T.G. (J. Invest. Dermatol. 2003) 3 23 49
  3. Association of HLA-DM polymorphism with the production of antiphospholipid antibodies. (PMID: 15547089) Sanchez M.L. … Khamashta M.A. (Ann. Rheum. Dis. 2004) 3 23 49
  4. HLA-DM polymorphism and risk of trichloroethylene induced medicamentosa-like dermatitis. (PMID: 18348411) Yue F. … Chen X.M. (Biomed. Environ. Sci. 2007) 3 23 49
  5. A new human HLA class II-related locus, DM. (PMID: 1922365) Kelly A.P. … Trowsdale J. (Nature 1991) 2 3 4

Products for HLA-DMB Gene

Sources for HLA-DMB Gene

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