HLA-DRB3 Gene (Protein Coding)

Major Histocompatibility Complex, Class II, DR Beta 3

GC06Mn03715
GIFtS:
29
HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximate... See more...

Aliases for HLA-DRB3 Gene

Aliases for HLA-DRB3 Gene

  • Major Histocompatibility Complex, Class II, DR Beta 3 2 3
  • HLA Class II Histocompatibility Antigen, DR Beta 3 Chain 3 4
  • MHC Class II Antigen DRB3 3 4
  • MHC Class II Antigen DR Beta 3 Chain 3
  • MHC Class II HLA-DR Beta 3 Chain 3
  • Human Leucocyte Antigen DRB3 3
  • MHC Class II DR Beta Chain 3
  • MHC Class II Protein 3
  • HLA-DRB3* 3
  • HLA-DPB1 3
  • HLA-DR1B 3
  • HLA-DR3B 3
  • HLA DRB3 3
  • DRB3 3

External Ids for HLA-DRB3 Gene

Previous HGNC Symbols for HLA-DRB3 Gene

  • HLA-DR3B

Previous GeneCards Identifiers for HLA-DRB3 Gene

  • GC06M032491
  • GC06M032483
  • GC06M032534
  • GC06M032079
  • GC06Mr32571
  • GC06Mf32560
  • GC06Mc32559
  • GC06Mi32479
  • GC06Mj32451
  • GC06M8T3720
  • GC06Mi03824

Summaries for HLA-DRB3 Gene

Entrez Gene Summary for HLA-DRB3 Gene

  • HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. 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. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

GeneCards Summary for HLA-DRB3 Gene

HLA-DRB3 (Major Histocompatibility Complex, Class II, DR Beta 3) is a Protein Coding gene. Diseases associated with HLA-DRB3 include Pityriasis Rosea and Fetal And Neonatal Alloimmune Thrombocytopenia. Among its related pathways are Rheumatoid arthritis and Allograft rejection. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and MHC class II receptor activity.

UniProtKB/Swiss-Prot Summary for HLA-DRB3 Gene

  • A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB3-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells. Typically presents extracellular peptide antigens of 10 to 30 amino acids that arise from proteolysis of endocytosed antigens in lysosomes (PubMed:2788702, PubMed:2463305, PubMed:16148104, PubMed:19531622, PubMed:20368442, PubMed:19830726, PubMed:23569328, PubMed:22929521, PubMed:30282837, PubMed:31020640, PubMed:31333679, PubMed:31308093). In the tumor microenvironment, presents antigenic peptides that are primarily generated in tumor-resident APCs likely via phagocytosis of apoptotic tumor cells or macropinocytosis of secreted tumor proteins (By similarity). Presents peptides derived from intracellular proteins that are trapped in autolysosomes after macroautophagy, a mechanism especially relevant for T cell selection in the thymus and central immune tolerance (By similarity). The selection of the immunodominant epitopes follows two processing modes: 'bind first, cut/trim later' for pathogen-derived antigenic peptides and 'cut first, bind later' for autoantigens/self-peptides. The anchor residue at position 1 of the peptide N-terminus, usually a large hydrophobic residue, is essential for high affinity interaction with MHCII molecules (By similarity).
  • ALLELE DRB3*01:01: Exclusively presents several immunogenic epitopes derived from C. tetani neurotoxin tetX, playing a significant role in immune recognition and long-term protection (PubMed:19830726, PubMed:2788702, PubMed:2463305). Presents viral epitopes derived from HHV-6B U11, TRX2/U56 and U85 antigens to polyfunctional CD4-positive T cells with cytotoxic activity implicated in control of HHV-6B infection (PubMed:31020640).
  • ALLELE DRB3*02:02 Exclusively presents several immunogenic epitopes derived from C. tetani neurotoxin tetX, playing a significant role in immune recognition and long-term protection (PubMed:19830726, PubMed:2788702). Upon EBV infection, presents to CD4-positive T cells latent antigen EBNA2 (PRSPTVFYNIPPMPLPPSQL) and lytic antigen BZLF1 (LTAYHVSTAPTGSWF) peptides, driving oligoclonal expansion and selection of virus-specific memory T cell subsets with cytotoxic potential to directly eliminate virus-infected B cells (PubMed:31308093, PubMed:23569328). Presents viral epitopes derived from HHV-6B U11, gB/U39 and gH/U48 antigens to polyfunctional CD4-positive T cells with cytotoxic activity implicated in control of HHV-6B infection (PubMed:31020640). Plays a minor role in CD4-positive T cell immune response against Dengue virus by presenting conserved peptides from capsid and non-structural NS3 proteins (PubMed:31333679). Displays peptides derived from IAV matrix protein M, implying a role in protection against IAV infection (PubMed:19830726). In the context of tumor immunesurveillance, may present to T-helper 1 cells an immunogenic epitope derived from tumor-associated antigen WT1 (KRYFKLSHLQMHSRKH), likely providing for effective antitumor immunity in a wide range of solid and hematological malignancies (PubMed:22929521). Presents to Vbeta2-positive T-helper 1 cells specifically an immunodominant peptide derived from tumor antigen CTAG1A/NY-ESO-1(PGVLLKEFTVSGNILTIRLTAADHR) and confers protective memory response (PubMed:19531622, PubMed:20368442). In metastatic epithelial tumors, presents to intratumoral CD4-positive T cells a TP53 neoantigen (HYNYMCNSSCMGSMNRRPILTIITL) carrying G245S hotspot driver mutation and may mediate tumor regression (PubMed:30282837).
  • ALLELE DRB3*03:01: Presents a series of conserved peptides derived from the M. tuberculosis PPE family of proteins, in particular PPE29 and PPE33, known to be highly immunogenic (PubMed:32341563). Presents immunogenic epitopes derived from C. tetani neurotoxin tetX, playing a role in immune recognition and long-term protection (PubMed:2788702). Displays immunodominant viral peptides from HCV non-structural protein NS2, as part of a broad range T-helper response to resolve infection (PubMed:16148104).

Gene Wiki entry for HLA-DRB3 Gene

Additional gene information for HLA-DRB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HLA-DRB3 Gene

Genomics for HLA-DRB3 Gene

Genomic Locations for HLA-DRB3 Gene

Latest Assembly
chr6(ALT_REF_LOCI_6):3,715,355-3,728,422
(GRCh38/hg38)
Size:
13,068 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_1):3,824,511-3,837,575 (-)
  • chr6(ALT_REF_LOCI_2):3,934,021-3,947,089 (-)

Genomic View for HLA-DRB3 Gene

Genes around HLA-DRB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for HLA-DRB3 Gene

No data available for GeneHancer (GH) Regulatory Elements for HLA-DRB3 Gene

Proteins for HLA-DRB3 Gene

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  • Protein details for HLA-DRB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P79483-DRB3_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DR beta 3 chain
    Protein Accession:
    P79483
    Secondary Accessions:
    • A0ZXY9
    • A7MA46
    • B5AU12
    • B5AU13
    • B5AU14
    • B8YAC6
    • C6H115
    • C6H116
    • O02875
    • O19590
    • O46701
    • O46794
    • O78049
    • O78162
    • P01913
    • P79663
    • Q29721
    • Q29809
    • Q2PPD0
    • Q30144
    • Q507L8
    • Q5SP44
    • Q5STE0
    • Q6YJU6
    • Q70M87
    • Q7YQ62
    • Q860I9
    • Q8SP69
    • Q8WLT7
    • Q8WLT8
    • Q95359
    • Q95HM8
    • Q95IE5
    • Q96H16
    • Q9BCP3
    • Q9BD18
    • Q9MYA4
    • Q9MYH3
    • Q9MYH4
    • Q9TP01
    • Q9TP02
    • Q9TPB5
    • Q9TQ21
    • Q9UIN3
    • Q9UIN5

    Protein attributes for HLA-DRB3 Gene

    Size:
    266 amino acids
    Molecular mass:
    29962 Da
    Quaternary structure:
    • Heterotrimer that consists of an alpha chain HLA-DRA, a beta chain HLA-DRB1 and a peptide (peptide-MHCII) (PubMed:17583734, PubMed:18697946). Newly synthesized alpha and beta chains forms a heterodimer (MHCII) that associates with the CD74/invariant chain (Ii) in the endoplasmic reticulum (ER). Ii is a trimer composed of three subunits and each subunit interacts with one MHCII dimer, blocking the peptide-binding cleft. As a result, MHCII molecules can not bind peptides present in the ER (By similarity). The complex of MHCII and CD74/Ii is transported in vesicles from ER to Golgi to lysosomes, where it encounters antigenic peptides generated via proteolysis of endocytosed antigens. MHCII dimers are dissociated from CD74/Ii by the combined action of proteolysis and HLA-DM (By similarity). Lysosomal enzymes such as cathepsin, degrade CD74/Ii leaving a 24 amino acid remnant called class II-associated Ii or CLIP. Interacts (via the peptide binding cleft) with CLIP; this interaction inhibits antigen peptide binding before entry in the endosomal compartment. The displacement of CLIP and replacement by a high affinity peptide in lysosomes is performed by HLA-DM heterodimer. HLA-DM catalyzes CLIP dissociation from MHCII, stabilizes empty MHCII and mediates the selection of high affinity peptides (By similarity). Interacts with HLA-DM heterodimer; this interaction is direct (By similarity). Interacts with TCR (via CDR3) (By similarity). Interacts (via beta-2 domain) with CD4 coreceptor (via Ig-like V-type domain); this interaction is of exceptionally low affinity yet necessary for optimal recognition of antigenic peptides (By similarity).

    Three dimensional structures from OCA and Proteopedia for HLA-DRB3 Gene

neXtProt entry for HLA-DRB3 Gene

Protein Expression for HLA-DRB3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLA-DRB3 Gene

  • Ubiquitinated by MARCHF1 and MARCHF8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II.
  • Glycosylation at Asn48
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for HLA-DRB3 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for HLA-DRB3 Gene

Domains & Families for HLA-DRB3 Gene

Gene Families for HLA-DRB3 Gene

HGNC:

Protein Domains for HLA-DRB3 Gene

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

Suggested Antigen Peptide Sequences for HLA-DRB3 Gene

GenScript: Design optimal peptide antigens:
  • MHC class II antigen (B8YAC7_HUMAN)
  • MHC class II antigen (D0AB36_HUMAN)
  • MHC class II antigen (D0AB37_HUMAN)
  • MHC class II antigen (D0RB86_HUMAN)
  • MHC class II antigen (D5GWK8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P79483

UniProtKB/Swiss-Prot:

DRB3_HUMAN :
  • The beta-1 domain is a structural part of the peptide-binding cleft. It contains one alpha helix and 4 beta sheets, respectively forming part of the wall and the floor of the peptide-binding cleft. The other 4 beta sheets of the floor and the second alpha helix wall is formed by the alpha-1 domain of HLA-DRA. Forms hydrogen bonds with the peptide main chain via conserved amino acid in most HLA-DRB molecules. The polymorphic residues accomodate the side chains of the peptide conferring peptide specificity to distinct HLA-DRB3 alleles (PubMed:17583734, PubMed:18697946). The peptide-bound beta-1 domain forms hydrogen bonds with CDR2 and CDR3 alpha-domains of TCR (By similarity).
  • Belongs to the MHC class II family.
Domain:
  • The beta-1 domain is a structural part of the peptide-binding cleft. It contains one alpha helix and 4 beta sheets, respectively forming part of the wall and the floor of the peptide-binding cleft. The other 4 beta sheets of the floor and the second alpha helix wall is formed by the alpha-1 domain of HLA-DRA. Forms hydrogen bonds with the peptide main chain via conserved amino acid in most HLA-DRB molecules. The polymorphic residues accomodate the side chains of the peptide conferring peptide specificity to distinct HLA-DRB3 alleles (PubMed:17583734, PubMed:18697946). The peptide-bound beta-1 domain forms hydrogen bonds with CDR2 and CDR3 alpha-domains of TCR (By similarity).
  • The beta-2 Ig-like domain mediates the interaction with CD4 coreceptor.
Family:
  • Belongs to the MHC class II family.
genes like me logo Genes that share domains with HLA-DRB3: view

Function for HLA-DRB3 Gene

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Molecular function for HLA-DRB3 Gene

UniProtKB/Swiss-Prot Function:
A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB3-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells. Typically presents extracellular peptide antigens of 10 to 30 amino acids that arise from proteolysis of endocytosed antigens in lysosomes (PubMed:2788702, PubMed:2463305, PubMed:16148104, PubMed:19531622, PubMed:20368442, PubMed:19830726, PubMed:23569328, PubMed:22929521, PubMed:30282837, PubMed:31020640, PubMed:31333679, PubMed:31308093). In the tumor microenvironment, presents antigenic peptides that are primarily generated in tumor-resident APCs likely via phagocytosis of apoptotic tumor cells or macropinocytosis of secreted tumor proteins (By similarity). Presents peptides derived from intracellular proteins that are trapped in autolysosomes after macroautophagy, a mechanism especially relevant for T cell selection in the thymus and central immune tolerance (By similarity). The selection of the immunodominant epitopes follows two processing modes: 'bind first, cut/trim later' for pathogen-derived antigenic peptides and 'cut first, bind later' for autoantigens/self-peptides. The anchor residue at position 1 of the peptide N-terminus, usually a large hydrophobic residue, is essential for high affinity interaction with MHCII molecules (By similarity).
UniProtKB/Swiss-Prot Function:
ALLELE DRB3*01:01: Exclusively presents several immunogenic epitopes derived from C. tetani neurotoxin tetX, playing a significant role in immune recognition and long-term protection (PubMed:19830726, PubMed:2788702, PubMed:2463305). Presents viral epitopes derived from HHV-6B U11, TRX2/U56 and U85 antigens to polyfunctional CD4-positive T cells with cytotoxic activity implicated in control of HHV-6B infection (PubMed:31020640).
UniProtKB/Swiss-Prot Function:
ALLELE DRB3*02:02 Exclusively presents several immunogenic epitopes derived from C. tetani neurotoxin tetX, playing a significant role in immune recognition and long-term protection (PubMed:19830726, PubMed:2788702). Upon EBV infection, presents to CD4-positive T cells latent antigen EBNA2 (PRSPTVFYNIPPMPLPPSQL) and lytic antigen BZLF1 (LTAYHVSTAPTGSWF) peptides, driving oligoclonal expansion and selection of virus-specific memory T cell subsets with cytotoxic potential to directly eliminate virus-infected B cells (PubMed:31308093, PubMed:23569328). Presents viral epitopes derived from HHV-6B U11, gB/U39 and gH/U48 antigens to polyfunctional CD4-positive T cells with cytotoxic activity implicated in control of HHV-6B infection (PubMed:31020640). Plays a minor role in CD4-positive T cell immune response against Dengue virus by presenting conserved peptides from capsid and non-structural NS3 proteins (PubMed:31333679). Displays peptides derived from IAV matrix protein M, implying a role in protection against IAV infection (PubMed:19830726). In the context of tumor immunesurveillance, may present to T-helper 1 cells an immunogenic epitope derived from tumor-associated antigen WT1 (KRYFKLSHLQMHSRKH), likely providing for effective antitumor immunity in a wide range of solid and hematological malignancies (PubMed:22929521). Presents to Vbeta2-positive T-helper 1 cells specifically an immunodominant peptide derived from tumor antigen CTAG1A/NY-ESO-1(PGVLLKEFTVSGNILTIRLTAADHR) and confers protective memory response (PubMed:19531622, PubMed:20368442). In metastatic epithelial tumors, presents to intratumoral CD4-positive T cells a TP53 neoantigen (HYNYMCNSSCMGSMNRRPILTIITL) carrying G245S hotspot driver mutation and may mediate tumor regression (PubMed:30282837).
UniProtKB/Swiss-Prot Function:
ALLELE DRB3*03:01: Presents a series of conserved peptides derived from the M. tuberculosis PPE family of proteins, in particular PPE29 and PPE33, known to be highly immunogenic (PubMed:32341563). Presents immunogenic epitopes derived from C. tetani neurotoxin tetX, playing a role in immune recognition and long-term protection (PubMed:2788702). Displays immunodominant viral peptides from HCV non-structural protein NS2, as part of a broad range T-helper response to resolve infection (PubMed:16148104).
GENATLAS Biochemistry:
HLA-DR,beta 3 chain,determining DRW52;W24,25,26

Phenotypes From GWAS Catalog for HLA-DRB3 Gene

Gene Ontology (GO) - Molecular Function for HLA-DRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
GO:0032395 MHC class II receptor activity NAS 6414998
GO:0042605 peptide antigen binding IDA, ISS 20356827
genes like me logo Genes that share ontologies with HLA-DRB3: view
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Inhibitory RNAs for research

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HLA-DRB3 Gene

Localization for HLA-DRB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DRB3 Gene

Cell membrane. Single-pass type I membrane protein. Endoplasmic reticulum membrane. Single-pass type I membrane protein. Lysosome membrane. Single-pass type I membrane protein. Late endosome membrane. Single-pass type I membrane protein. Autolysosome membrane. Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation (PubMed:18305173). Component of immunological synapses at the interface between T cell and APC. {ECO:0000250 UniProtKB:P01911}.

Gene Ontology (GO) - Cellular Components for HLA-DRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005765 lysosomal membrane IDA, TAS --
GO:0005886 plasma membrane IDA, TAS --
GO:0005887 integral component of plasma membrane NAS 6414998
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with HLA-DRB3: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for HLA-DRB3 Gene

Pathways & Interactions for HLA-DRB3 Gene

PathCards logo

SuperPathways for HLA-DRB3 Gene

SuperPathway Contained pathways
1 Allograft rejection
Allograft rejection
.65
Type I diabetes mellitus
.65
Graft-versus-host disease
.60
Autoimmune thyroid disease
.60
Allograft Rejection
.46
Asthma
.44
THC Differentiation Pathway
.39
CTL Mediated Apoptosis
.38
Intestinal immune network for IgA production
.38
Viral myocarditis
.38
Antigen processing and presentation
.35
2 Th17 cell differentiation
Th1 and Th2 cell differentiation
.55
Th17 cell differentiation
.55
Inflammatory bowel disease
.37
Immune response IL-22 signaling pathway
.36
3 Translocation of ZAP-70 to Immunological synapse
Phosphorylation of CD3 and TCR zeta chains
.81
Translocation of ZAP-70 to Immunological synapse
.81
PD-1 signaling
.71
Generation of second messenger molecules
.57
4 ICos-ICosL Pathway in T-Helper Cell
CD28 Signaling in T-Helper Cell
.66
ICos-ICosL Pathway in T-Helper Cell
.66
Calcium Mediated T-Cell Apoptosis
.31
5 TCR Signaling (Qiagen)
PKC-Theta Pathway
.68
TCR Signaling
.68
ITK and TCR Signaling
.54
genes like me logo Genes that share pathways with HLA-DRB3: view

Pathways by source for HLA-DRB3 Gene

1 BioSystems pathway for HLA-DRB3 Gene
6 GeneGo (Thomson Reuters) pathways for HLA-DRB3 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-DRB3 Gene
  • Calcium Mediated T-Cell Apoptosis
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis
  • CTLA4 Signaling

Interacting Proteins for HLA-DRB3 Gene

Selected Interacting proteins: P79483-DRB3_HUMAN for HLA-DRB3 Gene via UniProtKB IID

GPS-Prot Interaction Network for HLA-DRB3

SIGNOR curated interactions for HLA-DRB3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HLA-DRB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002469 myeloid dendritic cell antigen processing and presentation IDA 19531622
GO:0002842 positive regulation of T cell mediated immune response to tumor cell IDA 30282837
GO:0007165 signal transduction NAS 8775462
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II IDA, TAS --
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Drugs & Compounds for HLA-DRB3 Gene

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(4) Drugs for HLA-DRB3 Gene - From: DrugBank, PharmGKB, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coccidioides immitis spherule Approved Pharma Target, binder 0
Clozapine Approved Pharma Antipsychotic medication 140
Heparin Approved, Investigational Pharma 1160
1D09C3 Investigational Pharma Target 0
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Transcripts for HLA-DRB3 Gene

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mRNA/cDNA for HLA-DRB3 Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :

Inhibitory RNAs for research

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Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DRB3 Gene

No ASD Table

Relevant External Links for HLA-DRB3 Gene

GeneLoc Exon Structure for
HLA-DRB3

Expression for HLA-DRB3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HLA-DRB3 Gene

mRNA expression in normal human tissues for HLA-DRB3 Gene
mRNA expression by BioGPS for HLA-DRB3 Gene

Protein differential expression in normal tissues from HIPED for HLA-DRB3 Gene

This gene is overexpressed in Skin (32.8), Lung (6.5), and Lymph node (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HLA-DRB3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HLA-DRB3

mRNA Expression by UniProt/SwissProt for HLA-DRB3 Gene:

P79483-DRB3_HUMAN
Tissue specificity: Expressed in professional APCs: monocyte/macrophages, dendritic cells and B cells (at protein level).
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-DRB3 Gene

Orthologs for HLA-DRB3 Gene

No data available for Orthologs and Evolution for HLA-DRB3 Gene

Paralogs for HLA-DRB3 Gene

(118) SIMAP similar genes for HLA-DRB3 Gene using alignment to 44 proteins:

  • DRB3_HUMAN
  • B8YAC7_HUMAN
  • D0AB36_HUMAN
  • D0AB37_HUMAN
  • D0RB86_HUMAN
  • D5GWK8_HUMAN
  • D6CI38_HUMAN
  • E5BD18_HUMAN
  • E9NVH0_HUMAN
  • F2QL93_HUMAN
  • H2A0A4_HUMAN
  • O19507_HUMAN
  • O19593_HUMAN
  • O19726_HUMAN
  • O19741_HUMAN
  • O62902_HUMAN
  • O78187_HUMAN
  • O78188_HUMAN
  • Q2F6I0_HUMAN
  • Q30135_HUMAN
  • Q30143_HUMAN
  • Q30153_HUMAN
  • Q30162_HUMAN
  • Q3LTJ7_HUMAN
  • Q3LTJ9_HUMAN
  • Q4PNL5_HUMAN
  • Q7JFU8_HUMAN
  • Q7KYN3_HUMAN
  • Q860Y7_HUMAN
  • Q8HWN0_HUMAN
  • Q8MGY5_HUMAN
  • Q8SNB6_HUMAN
  • Q95358_HUMAN
  • Q95HM7_HUMAN
  • Q95IE9_HUMAN
  • Q95IF8_HUMAN
  • Q9MYD6_HUMAN
  • Q9TQ22_HUMAN
  • Q9TQD7_HUMAN
  • Q9UBW6_HUMAN
  • Q9UIN4_HUMAN
  • Q9UM29_HUMAN
  • Q9UQT9_HUMAN
  • R4QTB2_HUMAN
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No data available for Paralogs for HLA-DRB3 Gene

Variants for HLA-DRB3 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DRB3 Gene

DRB3_HUMAN-P79483
Highly polymorphic. Polymorphic residues encode for the beta-1 domain of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The sequence shown is that of DRB3*01:01. The sequences of common representative alleles of serologically distinct allele groups as defined in the catalog of common and well-documented HLA alleles, are described as variants of DRB3*01:01. The most frequent alleles in human population are DRB3*01:01 (DR52a), DRB3*02:02 (DR52b) and DRB3*03:01 (DR52c) (PubMed:23510415). Allele DRB3*01:01 belongs to an ancestral haplotype and is associated with autoimmune diseases that are linked to antigen presentation. It is found in more than 95% of the homozygous HPA-1B mothers that produce anti-HPA-1A antibodies, leading to neonatal alloimmune thrombocytopenia (NAIT) (PubMed:19494351, PubMed:19535639). In the context of hematological malignancy and T cell transplantation, alleles DRB3*01:01 and DRB3*02:02 present minor histocompatibility antigens derived respectively from host PTK2B and MR1 proteins, contributing to T cell-mediated graft-versus-leukemia effect and complete remission (PubMed:19706888). Allele DRB3*03:01 plays an important role in the outcome of HLA-identical sex-mismatched organ transplantation. Presents to T-helper cells a minor histocompatibility antigen encoded by the Y chromosome RPS4Y1 (VIKVNDTVQI), leading to the maturation of dendritic cells and expansion of antigen-specific cytotoxic T cells, ultimately triggering transplant rejection (PubMed:12944060).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HLA-DRB3 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1059580 -- p.Leu67Val
rs1059598 -- p.Arg103Gln
rs1071747 -- p.Glu38Gln
rs1071748 -- p.Arg40Leu
rs1136752 -- p.Arg40Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HLA-DRB3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for HLA-DRB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-DRB3
Leiden Open Variation Database (LOVD)
HLA-DRB3

SNP Genotyping and Copy Number Assays for research

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for HLA-DRB3 Gene

Disorders for HLA-DRB3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HLA-DRB3 Gene - From: GCD

Disorder Aliases PubMed IDs
pityriasis rosea
  • pityriasis circinata
fetal and neonatal alloimmune thrombocytopenia
  • nait
autoimmune hepatitis type 1
  • aih type 1
thrombocytopenia
wolfram syndrome
  • diabetes insipidus and mellitus with optic atrophy and deafness
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HLA-DRB3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HLA-DRB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-DRB3 Gene

Publications for HLA-DRB3 Gene

  1. HLA-DRB4 as a genetic risk factor for Churg-Strauss syndrome. (PMID: 17763415) Vaglio A … Secondary and Primary Vasculitis Study Group (Arthritis and rheumatism 2007) 3 22 40
  2. Analyzing the Mycobacterium tuberculosis immune response by T-cell receptor clustering with GLIPH2 and genome-wide antigen screening. (PMID: 32341563) Huang H … Davis MM (Nature biotechnology 2020) 3 4
  3. Enhanced detection of neoantigen-reactive T cells targeting unique and shared oncogenes for personalized cancer immunotherapy. (PMID: 30282837) Yossef R … Rosenberg SA (JCI insight 2018) 3 4
  4. Human platelet antigen allele frequencies in different Algerian populations. (PMID: 20149160) Brouk H … Kaplan C (Tissue antigens 2010) 3 40
  5. The impact of anti-HY responses on outcome in current and subsequent pregnancies of patients with recurrent pregnancy losses. (PMID: 20307907) Christiansen OB … Nielsen HS (Journal of reproductive immunology 2010) 3 40

ExternalLinks

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