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Aliases for HLA-DOA Gene

Aliases for HLA-DOA Gene

  • Major Histocompatibility Complex, Class II, DO Alpha 2 3 5
  • MHC Class II Antigen DOA 3 4
  • MHC DN-Alpha 3 4
  • MHC DZ Alpha 3 4
  • HLA-DNA 3 4
  • HLA-DZA 3 4
  • Major Histocompatibility Complex, Class II, DN Alpha 3
  • Lymphocyte Antigen 3
  • HLA-D0-Alpha 3
  • HLADZ 3

External Ids for HLA-DOA Gene

Previous HGNC Symbols for HLA-DOA Gene

  • HLA-DZA
  • HLA-DNA

Previous GeneCards Identifiers for HLA-DOA Gene

  • GC06M032976
  • GC06M033020
  • GC06M033081
  • GC06M032971
  • GC06M032714

Summaries for HLA-DOA Gene

Entrez Gene Summary for HLA-DOA Gene

  • HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]

GeneCards Summary for HLA-DOA Gene

HLA-DOA (Major Histocompatibility Complex, Class II, DO Alpha) is a Protein Coding gene. Diseases associated with HLA-DOA include keshan disease. Among its related pathways are Immune System and Allograft rejection. 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-DMA.

UniProtKB/Swiss-Prot for HLA-DOA 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-DOA Gene

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

Genomics for HLA-DOA Gene

Regulatory Elements for HLA-DOA Gene

Promoters for HLA-DOA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HLA-DOA on UCSC Golden Path with GeneCards custom track

Genomic Location for HLA-DOA Gene

Chromosome:
6
Start:
33,004,178 bp from pter
End:
33,009,612 bp from pter
Size:
5,435 bases
Orientation:
Minus strand

Genomic View for HLA-DOA Gene

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

Cytogenetic band:
HLA-DOA 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-DOA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-DOA Gene

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

    Protein Symbol:
    P06340-DOA_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DO alpha chain
    Protein Accession:
    P06340
    Secondary Accessions:
    • Q58HU0
    • Q58HU1
    • Q5STC7
    • Q9TQC6
    • Q9TQC7
    • Q9TQC8
    • Q9TQC9
    • Q9TQD0
    • Q9TQD1
    • Q9TQD2
    • Q9TQD3

    Protein attributes for HLA-DOA Gene

    Size:
    250 amino acids
    Molecular mass:
    27599 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-DOA Gene

neXtProt entry for HLA-DOA Gene

Proteomics data for HLA-DOA Gene at MOPED

Post-translational modifications for HLA-DOA Gene

  • Glycosylation at Asn 104 and Asn 144
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DOA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for HLA-DOA Gene

Graphical View of Domain Structure for InterPro Entry

P06340

UniProtKB/Swiss-Prot:

DOA_HUMAN :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the MHC class II family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DOA: view

Function for HLA-DOA Gene

Molecular function for HLA-DOA 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.

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25416956
genes like me logo Genes that share ontologies with HLA-DOA: view
genes like me logo Genes that share phenotypes with HLA-DOA: view

Animal Models for HLA-DOA Gene

MGI Knock Outs for HLA-DOA:

Animal Model Products

CRISPR Products

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

Localization for HLA-DOA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DOA 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
Jensen Localization Image for HLA-DOA Gene COMPARTMENTS Subcellular localization image for HLA-DOA gene
Compartment Confidence
plasma membrane 3
extracellular 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

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

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

Pathways & Interactions for HLA-DOA Gene

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

Interacting Proteins for HLA-DOA Gene

STRING Interaction Network Preview (showing 2 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.ENSP00000229829%0d%0a9606.ENSP00000390020%0d%0a9606.ENSP00000363976%0d%0a
Selected Interacting proteins: ENSP00000229829 P06340-DOA_HUMAN for HLA-DOA Gene via STRING I2D UniProtKB

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 3000765
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II IEA,TAS --
genes like me logo Genes that share ontologies with HLA-DOA: view

No data available for SIGNOR curated interactions for HLA-DOA Gene

Drugs & Compounds for HLA-DOA Gene

No Compound Related Data Available

Transcripts for HLA-DOA Gene

Unigene Clusters for HLA-DOA Gene

Major histocompatibility complex, class II, DO alpha:
Representative Sequences:

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

No ASD Table

Relevant External Links for HLA-DOA Gene

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

Expression for HLA-DOA Gene

mRNA expression in normal human tissues for HLA-DOA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Spleen (x5.1).

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

This gene is overexpressed in Blymphocyte (38.0), Lymph node (17.0), and Monocytes (13.4).

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



SOURCE GeneReport for Unigene cluster for HLA-DOA Gene Hs.631991

genes like me logo Genes that share expression patterns with HLA-DOA: view

Protein tissue co-expression partners for HLA-DOA Gene

- Elite partner

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for HLA-DOA Gene

Orthologs for HLA-DOA Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-DOA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BOLA-DOA 35
  • 80.93 (n)
  • 74 (a)
BOLA-DNA 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLA-DOA 35
  • 84.53 (n)
  • 80.4 (a)
DLA-DOA 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia H2-Oa 35
  • 80.13 (n)
  • 73.2 (a)
H2-Oa 16
H2-Oa 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC471979 35
  • 98.8 (n)
  • 98.8 (a)
HLA-DOA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RT1-DOa 35
  • 80.27 (n)
  • 71.2 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 48 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:busm1-48c11.3 36
  • 28 (a)
ManyToMany
Species with no ortholog for HLA-DOA:
  • 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)
  • 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)
  • 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)

Evolution for HLA-DOA Gene

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

Paralogs for HLA-DOA Gene

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

Variants for HLA-DOA Gene

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

P06340-DOA_HUMAN
The following alleles of DOA are known: DOA*01:01, DOA*01:02 and DOA*01:03. The sequence shown is that of DOA*01:01.

Sequence variations from dbSNP and Humsavar for HLA-DOA Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs41542323 - 33,008,049(-) ACATC(C/G)TGGTG reference, missense
rs11575906 - 33,008,031(-) CCAAC(C/T)GCAGC reference, missense
rs2581 -- 33,006,624(-) ACACA(A/C)ACACA downstream-variant-500B, utr-variant-3-prime
rs2582 -- 33,006,774(-) GACAG(A/C)CCCTG reference, missense, utr-variant-3-prime
rs86567 -- 33,008,982(-) GGCCC(A/C)CCATT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv483081 CNV Loss 15286789

Variation tolerance for HLA-DOA Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLA-DOA Gene

HapMap Linkage Disequilibrium report
HLA-DOA
Human Gene Mutation Database (HGMD)
HLA-DOA

Disorders for HLA-DOA Gene

MalaCards: The human disease database

(1) MalaCards diseases for HLA-DOA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
keshan disease
  • caused by deficiency of selenium in the diet
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HLA-DOA

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

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

Publications for HLA-DOA Gene

  1. The HLA-DNA (DZA) gene is correctly expressed as a 1.1 kb mature mRNA transcript. (PMID: 2370084) Young J.A. … Trowsdale J. (Immunogenetics 1990) 2 3 4 67
  2. Ectopic expression of HLA-DO in mouse dendritic cells diminishes MHC class II antigen presentation. (PMID: 15265882) Fallas J.L. … Denzin L.K. (J. Immunol. 2004) 3 23
  3. Limited polymorphism in the HLA-DOA gene. (PMID: 10323340) Naruse T.K. … Inoko H. (Tissue Antigens 1999) 3 23
  4. Genome-wide study reveals an important role of spontaneous autoimmunity, cardiomyocyte differentiation defect and anti-angiogenic activities in gender-specific gene expression in Keshan disease. (PMID: 24384427) He S. … Xiang Y. (Chin. Med. J. 2014) 3
  5. Human leukocyte antigen-DO regulates surface presentation of human leukocyte antigen class II-restricted antigens on B cell malignancies. (PMID: 24530695) Kremer A.N. … Griffioen M. (Biol. Blood Marrow Transplant. 2014) 3

Products for HLA-DOA Gene

Sources for HLA-DOA Gene

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