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T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]
TRB (T Cell Receptor Beta Locus) is a Protein Coding gene. Diseases associated with TRB include Precursor T-Cell Acute Lymphoblastic Leukemia and Red Cell Aplasia. Among its related pathways are Immune response Function of MEF2 in T lymphocytes and Th17 cell differentiation.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J142300 | Enhancer | 0.5 | ENCODE dbSUPER | 600.7 | +1.9 | 1862 | 0.2 | CTCF ZNF143 | TRB TRBV1 TRBV2 lnc-MGAM2-8 | |
GH07J142297 | Enhancer | 0.4 | Ensembl dbSUPER | 600.7 | -0.5 | -511 | 0.2 | CTCF | TRB TRBV1 lnc-MGAM2-8 PRSS3P3 PRSS58 | |
GH07J142303 | Enhancer | 0.7 | Ensembl ENCODE dbSUPER | 0.7 | +4.9 | 4905 | 0.6 | CTCF POLR2A RAD21 | ENSG00000186163 HSALNG0061883 TRB TRBV2 TRBV3-1 LOC105375539 | |
GH07J142301 | Promoter/Enhancer | 0.6 | Ensembl dbSUPER | 0.7 | +2.3 | 2290 | 0.2 | POLR2A | TRBV2 TRB HSALNG0061883 TRBV3-1 | |
GH07J142323 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 0.3 | +25.2 | 25190 | 1.2 | BRCA1 CTCF TEAD4 ZIC2 PATZ1 ZNF444 ZNF580 ZBTB48 ZBTB17 ZNF423 | TRBV5-1 TRBV6-1 LOC105375539 TRB |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response NFAT in immune response |
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
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Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
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2 | G-protein signaling N-RAS regulation pathway |
G-protein signaling N-RAS regulation pathway
.52
|
Immune response Antigen presentation by MHC class II
.52
|
3 | G-protein signaling_Rap1A regulation pathway |
G-protein signaling_Rap1A regulation pathway
-
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4 | G-protein signaling_Regulation of RAC1 activity |
G-protein signaling_Regulation of RAC1 activity
-
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5 | Antigen processing-Cross presentation |
Immune response Antigen presentation by MHC class I
.51
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640389 | Uncertain Significance: Hereditary pancreatitis; Inborn genetic diseases | 142,751,820(+) | G/C | MISSENSE_VARIANT | |
643465 | Uncertain Significance: Hereditary pancreatitis; Inborn genetic diseases | 142,751,856(+) | C/T | MISSENSE_VARIANT | |
643538 | Uncertain Significance: Hereditary pancreatitis | 142,750,677(+) | G/C | MISSENSE_VARIANT | |
645885 | Uncertain Significance: Hereditary pancreatitis | 142,750,617(+) | G/T | MISSENSE_VARIANT | |
649159 | Uncertain Significance: Hereditary pancreatitis | 142,752,431(+) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
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precursor t-cell acute lymphoblastic leukemia |
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red cell aplasia |
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granulomatous slack skin disease |
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trypsinogen deficiency |
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t-cell lymphoma, subcutaneous panniculitis-like |
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