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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 Trypsinogen Deficiency and Prss1-Related Hereditary Pancreatitis. Among its related pathways are Immune response Function of MEF2 in T lymphocytes and Cytokines and Inflammatory Response.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH07J142297 | Enhancer | 0.7 | Ensembl dbSUPER | 250.7 | -0.6 | -604 | 1.2 | CTCF YY1 ZNF316 SPI1 NFE2 MAX SP1 RAD21 ZNF143 USF2 | TRB TRBV1 lnc-MGAM2-8 PRSS3P3 PRSS58 | |
GH07J142300 | Enhancer | 0.5 | ENCODE dbSUPER | 250.7 | +1.9 | 1862 | 0.2 | CTCF ZNF143 | HSALNG0061881 HSALNG0061882 TRB TRBV1 TRBV2 lnc-MGAM2-8 | |
GH07J142303 | Enhancer | 0.7 | Ensembl ENCODE dbSUPER | 0.7 | +4.9 | 4905 | 0.6 | CTCF RAD21 POLR2A | HSALNG0061882 TRY2P HSALNG0061883 TRB TRBV2 TRBV3-1 LOC105375539 | |
GH07J142301 | Promoter/Enhancer | 0.6 | Ensembl dbSUPER | 0.7 | +2.3 | 2290 | 0.2 | POLR2A | HSALNG0061881 HSALNG0061882 TRBV2 TRB TRBV3-1 | |
GH07J142323 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 0.3 | +25.2 | 25190 | 1.2 | CTCF ZIC2 VEZF1 RAD51 ZBTB48 ZNF189 RLF ZNF143 GLIS1 USF2 | TRBV5-1 TRBV6-1 LOC105375539 TRB |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0038023 | signaling receptor activity | IDA | 31959982 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016021 | integral component of membrane | IEA | -- |
GO:0042105 | alpha-beta T cell receptor complex | IDA | 31959982 |
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
|
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
|
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
-
|
|
4 | G-protein signaling_Regulation of RAC1 activity |
G-protein signaling_Regulation of RAC1 activity
-
|
|
5 | Antigen processing-Cross presentation |
Immune response Antigen presentation by MHC class I
.51
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002355 | detection of tumor cell | IDA | 31959982 |
GO:0002419 | T cell mediated cytotoxicity directed against tumor cell target | IDA | 31959982 |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
653067 | Uncertain Significance: Hereditary pancreatitis | 142,752,462(+) |
TG/CA NM_002769.5(PRSS1):c.486_487inv (p.Ala163Thr) |
MISSENSE | |
835637 | Uncertain Significance: Hereditary pancreatitis | 142,751,968(+) |
C/A NM_002769.5(PRSS1):c.395C>A (p.Pro132His) |
MISSENSE | |
835873 | Uncertain Significance: Hereditary pancreatitis | 142,751,812(+) |
T/G NM_002769.5(PRSS1):c.239T>G (p.Val80Gly) |
MISSENSE | |
836237 | Uncertain Significance: Hereditary pancreatitis | 142,751,776(+) |
G/A NM_002769.5(PRSS1):c.203G>A (p.Arg68His) |
MISSENSE | |
843019 | Uncertain Significance: Hereditary pancreatitis | 142,750,594(+) |
G/A NM_002769.5(PRSS1):c.80G>A (p.Gly27Asp) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
trypsinogen deficiency |
|
|
prss1-related hereditary pancreatitis |
|
|
pancreatitis, hereditary |
|
|
precursor t-cell acute lymphoblastic leukemia |
|
|
red cell aplasia |
|
|