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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
  • HLA Class II Histocompatibility Antigen, DO Alpha Chain 3
  • 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 HTLV-I infection and G-protein signaling N-RAS regulation pathway. 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 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

Enhancers for HLA-DOA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F033016 1.8 FANTOM5 Ensembl ENCODE 16.2 -9.3 -9256 5.0 PKNOX1 ZNF493 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 KLF7 HCG25 BRD2 VPS52 LEMD2 ATF6B RXRB RING1 PPT2 MIR6873 DAXX
GH06F033014 1.3 FANTOM5 Ensembl ENCODE 14.8 -5.8 -5844 1.5 HDGF ELF3 WRNIP1 SIN3A FEZF1 RAD21 RFX5 SCRT2 ZNF143 ZNF207 HLA-DQA2 HLA-DOA HLA-DPB1 HLA-DQB1 HLA-DQB2 HLA-DPA1 HLA-DPB2 RPS18 HSD17B8 HLA-DRB1
GH06F033049 0.7 FANTOM5 Ensembl 13.6 -40.5 -40549 0.9 CTCF ESRRA ZNF512 PBX2 EED IKZF1 CEBPG HLA-DQA2 HLA-DPB1 HLA-DPA1 HLA-DOA HLA-DQB1 RPL32P1 HLA-DQB2 HLA-DPB2 HLA-DRB1 HLA-DOB
GH06F033008 0.5 ENCODE 12.8 +0.3 289 2.0 HDGF TBP YY1 RFX5 ZNF121 GLIS2 ZNF366 SCRT2 ZNF143 CREM HLA-DOA RPS18 HLA-DPA1 CUTA ENSG00000263756
GH06F033070 1.2 FANTOM5 ENCODE 12.7 -64.1 -64051 6.6 HDGF TBP PKNOX1 ATF1 WRNIP1 SIN3A YBX1 ZBTB40 RFX5 YY1 HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DQA2 HLA-DOB HLA-DRB1 HLA-DOA PRRT1 HLA-DQB2 MIR5004
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

Promoters for HLA-DOA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000488082 212 1201 HDGF TBP MXI1 ZIC2 RFX5 RELA ZNF121 GLIS2 RFXANK POLR2A

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

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:

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 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

Flow Cytometry 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:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,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

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 UniProtKB IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
HLA-DMA

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

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0007165 signal transduction IEA --
GO:0019882 antigen processing and presentation IEA --
genes like me logo Genes that share ontologies with HLA-DOA: view

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

Transcripts for HLA-DOA Gene

Unigene Clusters for HLA-DOA Gene

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

Flow Cytometry Products

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



Protein tissue co-expression partners for HLA-DOA Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for HLA-DOA Gene:

Hs.631991
genes like me logo Genes that share expression patterns with HLA-DOA: view

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
chimpanzee
(Pan troglodytes)
Mammalia HLA-DOA 35
  • 99 (a)
OneToOne
LOC471979 34
  • 98.8 (n)
dog
(Canis familiaris)
Mammalia DLA-DOA 34 35
  • 84.53 (n)
cow
(Bos Taurus)
Mammalia BOLA-DOA 34
  • 80.93 (n)
BOLA-DNA 35
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RT1-DOa 34
  • 80.27 (n)
mouse
(Mus musculus)
Mammalia H2-Oa 34 16 35
  • 80.13 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 59 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 48 (a)
ManyToMany
-- 35
  • 46 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:busm1-48c11.3 35
  • 28 (a)
ManyToMany
Species where no ortholog for HLA-DOA 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)
  • 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

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 from dbSNP and Humsavar for HLA-DOA Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1044429 -- 33,004,865(-) GAGGA(A/G)AATCA utr-variant-3-prime
rs1075893 -- 33,008,763(+) GGGAG(A/C)GGCAA intron-variant
rs10947368 -- 33,007,564(-) CCCAA(A/G)TCTCG reference, synonymous-codon
rs111506959 -- 33,006,773(+) GCAGG(C/G/T)GCTGT utr-variant-3-prime
rs111651065 -- 33,005,452(+) ATGCC(A/G)TGGCA utr-variant-3-prime

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)

Relevant External Links 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

(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. Limited polymorphism in the HLA-DOA gene. (PMID: 10323340) Naruse T.K. … Inoko H. (Tissue Antigens 1999) 3 4 22 64
  2. 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 64
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C. … Soranzo N. (Nature 2011) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Genetic association of htSNPs across the major histocompatibility complex with rheumatoid arthritis in an African-American population. (PMID: 19741715) Reynolds R.J. … Bridges S.L. (Genes Immun. 2010) 3 46 64

Products for HLA-DOA Gene

Sources for HLA-DOA Gene

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