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 ... See more...

Aliases for HLA-DOA Gene

Aliases for HLA-DOA Gene

  • Major Histocompatibility Complex, Class II, DO Alpha 2 3 5
  • HLA Class II Histocompatibility Antigen, DO Alpha Chain 3 4
  • MHC Class II Antigen DOA 3 4
  • HLA-D0-Alpha 2 3
  • 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-DOA 5
  • 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 and Hirata Disease. Among its related pathways are TCR Signaling (Qiagen) and Tuberculosis. 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-DQA1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLA-DOA Gene

Genomics for HLA-DOA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HLA-DOA 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-DOA on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the HLA-DOA gene promoter:
  • AML1a
  • HNF-4alpha1
  • PPAR-gamma1
  • PPAR-gamma2
  • Roaz
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • USF-1
  • USF1

Genomic Locations for HLA-DOA Gene

Genomic Locations for HLA-DOA Gene
chr6:33,004,182-33,009,591
(GRCh38/hg38)
Size:
5,410 bases
Orientation:
Minus strand
chr6:32,971,955-32,977,389
(GRCh37/hg19)
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

Post-translational modifications for HLA-DOA Gene

  • Glycosylation at Asn104 and Asn144
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-DOA Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Domains & Families for HLA-DOA Gene

Gene Families for HLA-DOA Gene

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

Protein Domains for HLA-DOA Gene

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

Suggested Antigen Peptide Sequences for HLA-DOA Gene

GenScript: Design optimal peptide antigens:
  • Major histocompatibility complex, class II, DO alpha (A2ALI8_HUMAN)
  • Major histocompatibility complex, class II, DO alpha (A9R9R2_HUMAN)
  • Major histocompatibility complex, class II, DO alpha (B0V049_HUMAN)
  • Major histocompatibility complex, class II, DO alpha (B0V2A6_HUMAN)
  • Major histocompatibility complex, class II, DO alpha (B1ATE8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06340

UniProtKB/Swiss-Prot:

DOA_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-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.

Phenotypes From GWAS Catalog for HLA-DOA Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0023026 MHC class II protein complex binding IDA 22733780
GO:0032395 MHC class II receptor activity TAS 3000765
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-DOA

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
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-DOA gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS 3000765
GO:0010008 endosome membrane IEA --
genes like me logo Genes that share ontologies with HLA-DOA: view

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

Pathways & Interactions for HLA-DOA Gene

PathCards logo

SuperPathways for HLA-DOA 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-DOA: view

Pathways by source for HLA-DOA Gene

6 GeneGo (Thomson Reuters) pathways for HLA-DOA 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-DOA Gene
  • Calcium Mediated T-Cell Apoptosis
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis
  • CTLA4 Signaling

SIGNOR curated interactions for HLA-DOA Gene

Is activated by:

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

Drugs & Compounds for HLA-DOA Gene

No Compound Related Data Available

Transcripts for HLA-DOA Gene

mRNA/cDNA for HLA-DOA Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-DOA

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

Expression for HLA-DOA Gene

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



Protein tissue co-expression partners for HLA-DOA Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for HLA-DOA Gene:

Hs.631991

Evidence on tissue expression from TISSUES for HLA-DOA Gene

  • Lung(4.4)
  • Blood(2.5)
  • Spleen(2.4)
genes like me logo Genes that share expression patterns with HLA-DOA: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia HLA-DOA 31
  • 99 (a)
OneToOne
LOC471979 30
  • 98.8 (n)
Dog
(Canis familiaris)
Mammalia DLA-DOA 30 31
  • 84.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BOLA-DOA 30
  • 80.93 (n)
BOLA-DNA 31
  • 72 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RT1-DOa 30
  • 80.27 (n)
Mouse
(Mus musculus)
Mammalia H2-Oa 30 17 31
  • 80.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 59 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 48 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii si:busm1-48c11.3 31
  • 28 (a)
ManyToMany
Species where no ortholog for HLA-DOA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HLA-DOA: view image

Paralogs for HLA-DOA Gene

(25) SIMAP similar genes for HLA-DOA Gene using alignment to 3 proteins:

  • DOA_HUMAN
  • B4DW77_HUMAN
  • F6WU08_HUMAN
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

DOA_HUMAN-P06340
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLA-DOA Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
768080 Benign: not provided 33,008,236(-) G/A SYNONYMOUS_VARIANT
792038 Benign: not provided 33,007,564(-) C/T SYNONYMOUS_VARIANT
rs11575906 - p.Arg105Cys
rs41542323 - p.Leu99Val

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

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

Variant ID Type Subtype PubMed ID
nsv1024429 CNV loss 25217958
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv483081 CNV loss 15286789
nsv602818 CNV loss 21841781

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)

Additional Variant Information for HLA-DOA Gene

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

Disorders for HLA-DOA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
keshan disease
  • caused by deficiency of selenium in the diet
hirata disease
  • insulin autoimmune syndrome
transverse colon cancer
  • ca transverse colon
rheumatoid arthritis
  • ra
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HLA-DOA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. Limited polymorphism in the HLA-DOA gene. (PMID: 10323340) Naruse TK … Inoko H (Tissue antigens 1999) 3 4 23
  2. The HLA-DNA (DZA) gene is correctly expressed as a 1.1 kb mature mRNA transcript. (PMID: 2370084) Young JA … Trowsdale J (Immunogenetics 1990) 2 3 4
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Genetic association of htSNPs across the major histocompatibility complex with rheumatoid arthritis in an African-American population. (PMID: 19741715) Reynolds RJ … CLEAR Investigators (Genes and immunity 2010) 3 41

Products for HLA-DOA Gene

  • Biorbyt antibodies for HLA-DOA

Sources for HLA-DOA Gene