HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocyt... See more...

Aliases for HLA-DOB Gene

Aliases for HLA-DOB Gene

  • Major Histocompatibility Complex, Class II, DO Beta 2 3 5
  • HLA Class II Histocompatibility Antigen, DO Beta Chain 3 4
  • MHC Class II Antigen DOB 3 4
  • HLA_DOB 3
  • DOB 3

External Ids for HLA-DOB Gene

Previous GeneCards Identifiers for HLA-DOB Gene

  • GC06M032777
  • GC06M032551
  • GC06M032827
  • GC06M032888
  • GC06M032780
  • GC06M032523

Summaries for HLA-DOB Gene

Entrez Gene Summary for HLA-DOB Gene

  • HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. 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-DOB Gene

HLA-DOB (Major Histocompatibility Complex, Class II, DO Beta) is a Protein Coding gene. Diseases associated with HLA-DOB include Duodenal Obstruction and Systemic Lupus Erythematosus. Among its related pathways are Hematopoietic cell lineage and G-protein signaling N-RAS regulation pathway. Gene Ontology (GO) annotations related to this gene include MHC class II protein complex binding and MHC class II receptor activity. An important paralog of this gene is HLA-DRB1.

UniProtKB/Swiss-Prot Summary for HLA-DOB Gene

  • Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM.

Gene Wiki entry for HLA-DOB Gene

Additional gene information for HLA-DOB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLA-DOB Gene

Genomics for HLA-DOB Gene

GeneHancer (GH) Regulatory Elements for HLA-DOB Gene

Promoters and enhancers for HLA-DOB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLA-DOB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HLA-DOB

Top Transcription factor binding sites by QIAGEN in the HLA-DOB gene promoter:
  • AP-1
  • c-Myc
  • E47
  • GATA-2
  • Max
  • STAT1
  • Tal-1beta

Genomic Locations for HLA-DOB Gene

Genomic Locations for HLA-DOB Gene
chr6:32,812,763-32,820,466
(GRCh38/hg38)
Size:
7,704 bases
Orientation:
Minus strand
chr6:32,780,540-32,784,825
(GRCh37/hg19)
Size:
4,286 bases
Orientation:
Minus strand

Genomic View for HLA-DOB Gene

Genes around HLA-DOB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-DOB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-DOB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-DOB Gene

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

    Protein Symbol:
    P13765-DOB_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DO beta chain
    Protein Accession:
    P13765
    Secondary Accessions:
    • B0V0Y0
    • Q29746
    • Q29825
    • Q6FHC2

    Protein attributes for HLA-DOB Gene

    Size:
    273 amino acids
    Molecular mass:
    30822 Da
    Quaternary structure:
    • Heterodimer of an alpha chain (DOA) and a beta chain (DOB). Forms a heterotetrameric complex with an HLA-DM molecule during intracellular transport in endosomal/lysosomal compartments in B-cells.

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

neXtProt entry for HLA-DOB Gene

Post-translational modifications for HLA-DOB Gene

  • Glycosylation at Asn45
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DOB Gene

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

Domains & Families for HLA-DOB Gene

Gene Families for HLA-DOB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for HLA-DOB Gene

Blocks:
  • Immunoglobulin C-type
  • MHC Class II alpha chain, alpha-1 domain
  • Class II histocompatibility antigen, beta chain, beta-1 domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HLA-DOB Gene

GenScript: Design optimal peptide antigens:
  • Major histocompatibility complex, class II, DO beta (A2ACQ8_HUMAN)
  • Major histocompatibility complex, class II, DO beta (A2ADX4_HUMAN)
  • Major histocompatibility complex, class II, DO beta (B0V0S3_HUMAN)
  • Major histocompatibility complex, class II, DO beta (B0V0Y1_HUMAN)
  • Major histocompatibility complex, class II, DO beta (B0V2J6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13765

UniProtKB/Swiss-Prot:

DOB_HUMAN :
  • Belongs to the MHC class II family.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DOB: view

Function for HLA-DOB Gene

Molecular function for HLA-DOB Gene

UniProtKB/Swiss-Prot Function:
Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM.
GENATLAS Biochemistry:
HLA-DO,alpha chain,expressed in B cell lysosomes,heterodimerizing with HLA-DNA to form HLA-DO,acting as a co-chaperone of HLA-DM in peptide loading of MHC class II molecules

Phenotypes From GWAS Catalog for HLA-DOB Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0023026 MHC class II protein complex binding IDA 22733780
GO:0032395 MHC class II receptor activity TAS 2998758
genes like me logo Genes that share ontologies with HLA-DOB: view
genes like me logo Genes that share phenotypes with HLA-DOB: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-DOB Gene

Localization for HLA-DOB Gene

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

Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=Complexes with HLA-DM molecule during intracellular transport and in endosomal/lysosomal compartments. Heterotetramerization is necessary to exit the ER.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-DOB gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 8890155
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HLA-DOB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HLA-DOB Gene

Pathways & Interactions for HLA-DOB Gene

PathCards logo

SuperPathways for HLA-DOB Gene

SuperPathway Contained pathways
1 Allograft rejection
.44
.39
.38
2 Th17 cell differentiation
.36
3 ICos-ICosL Pathway in T-Helper Cell
.66
.66
.31
4 TCR Signaling (Qiagen)
.68
.68
.54
5 Immune response NFAT in immune response
.56
.56
.52
genes like me logo Genes that share pathways with HLA-DOB: view

Pathways by source for HLA-DOB Gene

6 GeneGo (Thomson Reuters) pathways for HLA-DOB Gene
  • G-protein signaling N-RAS regulation pathway
  • Immune response Antigen presentation by MHC class II
  • Immune response ICOS pathway in T-helper cell
  • Immune response IL-22 signaling pathway
  • Immune response NFAT in immune response
12 Qiagen pathways for HLA-DOB Gene
  • Calcium Mediated T-Cell Apoptosis
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis
  • CTLA4 Signaling

SIGNOR curated interactions for HLA-DOB Gene

Is activated by:

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II IEA --
GO:0002587 negative regulation of antigen processing and presentation of peptide antigen via MHC class II IDA 22733780
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with HLA-DOB: view

Drugs & Compounds for HLA-DOB Gene

No Compound Related Data Available

Transcripts for HLA-DOB Gene

mRNA/cDNA for HLA-DOB Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for HLA-DOB Gene

GeneLoc Exon Structure for
HLA-DOB

Expression for HLA-DOB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HLA-DOB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Spleen (x11.7), Whole Blood (x5.5), and Small Intestine - Terminal Ileum (x4.7).

Protein differential expression in normal tissues from HIPED for HLA-DOB Gene

This gene is overexpressed in Blymphocyte (37.3), Lymph node (14.4), and Peripheral blood mononuclear cells (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HLA-DOB Gene



Protein tissue co-expression partners for HLA-DOB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HLA-DOB

SOURCE GeneReport for Unigene cluster for HLA-DOB Gene:

Hs.1802

Evidence on tissue expression from TISSUES for HLA-DOB Gene

  • Blood(2.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with HLA-DOB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-DOB Gene

Orthologs for HLA-DOB Gene

This gene was present in the common ancestor of mammals.

Orthologs for HLA-DOB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PATR-DOB 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DLA-DOB 31 30
  • 86.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia H2-Ob 17 31 30
  • 81.11 (n)
cow
(Bos Taurus)
Mammalia BOLA-DOB 31 30
  • 80.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RT1-DOb 30
  • 79.75 (n)
oppossum
(Monodelphis domestica)
Mammalia HLA-DOB 31
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
ManyToMany
Species where no ortholog for HLA-DOB was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HLA-DOB Gene

ENSEMBL:
Gene Tree for HLA-DOB (if available)
TreeFam:
Gene Tree for HLA-DOB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HLA-DOB: view image

Paralogs for HLA-DOB Gene

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

Variants for HLA-DOB Gene

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

DOB_HUMAN-P13765
The following alleles of DOB are known: DOB*01:01, DOB*01:02, DOB*01:03 and DOB*01:04. The sequence shown is that of DOB*01:01.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLA-DOB Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs11575907 - p.Val210Ile
rs2070121 - p.Leu234Phe
rs2071554 - p.Arg18Gln
rs2621330 - p.Val244Ile

Additional dbSNP identifiers (rs#s) for HLA-DOB Gene

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

Variant ID Type Subtype PubMed ID
dgv1759e212 CNV loss 25503493
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv510024 OTHER sequence alteration 20534489
nsv511120 OTHER complex 20534489

Variation tolerance for HLA-DOB Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.50; 77.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HLA-DOB Gene

Human Gene Mutation Database (HGMD)
HLA-DOB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-DOB

Disorders for HLA-DOB Gene

MalaCards: The human disease database

(2) MalaCards diseases for HLA-DOB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
duodenal obstruction
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HLA-DOB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HLA-DOB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DOB Gene

Publications for HLA-DOB Gene

  1. The HLA-DOB gene displays limited polymorphism with only one amino acid substitution. (PMID: 12445321) Naruse TK … Tatsumi N (Tissue antigens 2002) 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Ectopic expression of HLA-DO in mouse dendritic cells diminishes MHC class II antigen presentation. (PMID: 15265882) Fallas JL … Denzin LK (Journal of immunology (Baltimore, Md. : 1950) 2004) 3 23 54

Products for HLA-DOB Gene

Sources for HLA-DOB Gene