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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]
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 TCR Signaling (Qiagen) and Tuberculosis. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and MHC class II receptor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032395 | MHC class II receptor activity | NAS | 6414998 |
GO:0042605 | peptide antigen binding | ISS | 20356827 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005765 | lysosomal membrane | IDA, TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | NAS | 6414998 |
GO:0012507 | ER to Golgi transport vesicle membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
.44
|
THC Differentiation Pathway
.39
CTL Mediated Apoptosis
.38
|
2 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
|
|
3 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
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
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0007165 | signal transduction | NAS | 8775462 |
GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II | TAS | -- |
GO:0050852 | T cell receptor signaling pathway | TAS | -- |
GO:0060333 | interferon-gamma-mediated signaling pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Coccidioides immitis spherule | Approved | Pharma | Target, binder | 0 | ||
Clozapine | Approved | Pharma | Antagonist, Allosteric regulator, Positive, Agonist, Full agonist, Inverse agonist | Antipsychotic medication | 136 | |
Heparin | Approved, Investigational | Pharma | Antagonist | 1058 | ||
1D09C3 | Investigational | Pharma | Target | 0 |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs144532965 | -. - | p.Val86Alap.Val86Asp | |||
rs200042906 | -. - | p.Phe66Serp.Phe66Tyr | |||
rs696318 | -. - | p.Leu96Phep.Leu96Ile | |||
rs1059580 | - | p.Leu67Val | |||
rs1059598 | - | p.Arg103Gln |
Disorder | Aliases | PubMed IDs |
---|---|---|
pityriasis rosea |
|
|
fetal and neonatal alloimmune thrombocytopenia |
|
|
autoimmune hepatitis type 1 |
|
|
thrombocytopenia |
|
|
wolfram syndrome |
|
|