TRB Gene - T Cell Receptor Beta Locus
Genetic and Functional Overview of the T Cell Receptor Beta Chain
Gene Information Card
| Symbol | TRB |
|---|---|
| Full Name | T cell receptor beta locus |
| Gene Type | locus (protein-coding, rearranging) |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 6957 ncbi.nlm.nih.gov/gene/6957 |
| Ensembl ID | ENSG00000211772 |
| UniProt ID | P01850 (constant region) |
| OMIM ID | 186930 |
| HGNC ID | 12155 |
| Aliases | TCRB, TCR beta, TRB@ |
Description
The TRB locus encodes the beta chain of the T cell receptor (TCR), a heterodimeric membrane protein essential for antigen recognition by T cells. The locus undergoes somatic V(D)J recombination during T cell development, generating a diverse repertoire of TCR beta chains. The beta chain pairs with the alpha chain (encoded by TRA locus) to form the alpha-beta TCR, which recognizes peptide antigens presented by major histocompatibility complex (MHC) molecules. TRB is critical for adaptive immunity, and its dysregulation is implicated in immunodeficiencies, autoimmune diseases, and T cell malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency (SCID) | Defective V(D)J recombination or TRB expression leads to absent or nonfunctional T cells | OMIM, ClinVar |
| T cell acute lymphoblastic leukemia (T-ALL) | Chromosomal rearrangements involving TRB (e.g., with LMO2, TAL1) drive oncogenic transcription | COSMIC, NCBI |
| Autoimmune lymphoproliferative syndrome (ALPS) | Mutations in FAS pathway genes can alter TRB repertoire selection, leading to autoimmunity | OMIM |
| Multiple sclerosis | TRB germline polymorphisms and repertoire skewing associated with autoimmune demyelination | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 12.5 | High |
| Spleen | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Blood (whole) | 6.8 | Medium |
| Bone marrow | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | 15.2 | High expression; model for TCR signaling |
| MOLT-4 (T cell lymphoblast) | 14.8 | High expression |
| K-562 (erythroleukemia) | 0.5 | Very low; non-T lineage |
| HeLa (cervical carcinoma) | 0.3 | Very low; non-T lineage |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| TRB-V(D)J rearrangement | Somatic recombination | 100% in T cells | Essential for TCR diversity; defects cause SCID |
| TRB-LMO2 fusion | Chromosomal translocation | Rare (<1% in T-ALL) | Oncogenic activation of LMO2 |
| TRB-TAL1 fusion | Chromosomal translocation | ~3% in T-ALL | Oncogenic activation of TAL1 |
| TRB germline polymorphism (e.g., rs1801249) | SNP | Variable (up to 30% in populations) | Associated with autoimmune disease risk |
Mutation functional classification
Loss of Function (LOF)
Homozygous deletions or recombination defects in TRB cause absence of TCR beta chain, leading to severe combined immunodeficiency (SCID) with lack of mature T cells.
Gain of Function (GOF)
Chromosomal translocations fusing TRB regulatory elements to oncogenes (e.g., LMO2, TAL1) result in ectopic or overexpression, driving T cell leukemia.
Dominant Negative (DN)
Not commonly described for TRB; dominant-negative effects are more typical for TCR signaling components (e.g., ZAP70) rather than the receptor chain itself.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T cell receptor signaling pathway (KEGG: hsa04660)
• Th1 and Th2 cell differentiation (KEGG: hsa04658)
• PD-1 checkpoint pathway in cancer (Reactome: R-HSA-389948)
Protein Summary
The T cell receptor beta chain is a type I transmembrane glycoprotein composed of variable (V), diversity (D), joining (J), and constant (C) regions. The constant region (UniProt P01850) is encoded by TRBC1 and TRBC2 genes within the locus. The beta chain pairs with the alpha chain to form the alpha-beta TCR, which recognizes peptide-MHC complexes. The intracellular tail of the beta chain associates with CD3 subunits to transduce activation signals. The TRB locus spans approximately 700 kb and contains ~65 V gene segments, 2 D segments, 13 J segments, and 2 C segments, enabling extensive combinatorial diversity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRB Knockout HEK293 Cell Line | EDJ-KQ5908 | Human | 6957 | Details Get a Quote |
| TRB Knockout A-549 Cell Line | EDJ-KQ29427 | Human | 6957 | Details Get a Quote |
| TRB Knockout HCT 116 Cell Line | EDJ-KQ29428 | Human | 6957 | Details Get a Quote |
| TRB Knockout HeLa Cell Line | EDJ-KQ29429 | Human | 6957 | Details Get a Quote |
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