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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 alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta 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 alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, 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. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRAC (T Cell Receptor Alpha Constant) is a Protein Coding gene. Diseases associated with TRAC include T-Cell Receptor-Alpha/Beta Deficiency. Among its related pathways are Innate Immune System and TCR signaling (REACTOME). An important paralog of this gene is TRAV38-1.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH14J022472 | Promoter/Enhancer | 2.4 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 13.8 | -25.4 | -25445 | 99 | SP1 BCL11A MXD4 CEBPA NR2C1 MNT DEK IKZF1 BRCA1 HES1 | LOC112267867 TRAJ21 TRAJ22 TRAJ23 LINC02332 ACIN1 RBM23 C14orf93 NGDN ABHD4 | |
GH14J022571 | Enhancer | 1 | ENCODE dbSUPER | 0.3 | +25.2 | 25163 | 1.7 | CUX1 FOXA2 MAFF SAP130 ETV4 CTBP1 RARA TEAD3 BCL6 JUND | DAD1 OR6J1 ABHD4 MMP14 OXA1L SLC7A7 MRPL52 PRMT5 C14orf93 RF00017-1507 | |
GH14J022578 | Enhancer | 0.7 | Ensembl dbSUPER | 0.3 | +31.5 | 31495 | 2.8 | ZIC2 BMI1 RFX1 GLIS1 ATF7 EGR2 PRDM10 FOXJ2 RFX3 ZFHX2 | RF00017-1507 piR-32214-166 DAD1 OR6J1 OXA1L MMP14 MRPL52 SLC7A7 lnc-OR6J1-2 TRAC | |
GH14J022582 | Enhancer | 0.5 | dbSUPER | 0.3 | +37.0 | 37039 | 3.4 | ZBTB33 KLF16 SPI1 RUNX3 ZGPAT RBFOX2 ERF | DAD1 OR6J1 MMP14 MRPL52 SLC7A7 piR-32214-166 lnc-OR6J1-2 TRAC |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0042101 | T cell receptor complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
2 | 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
|
3 | TCR signaling (REACTOME) |
.83
|
|
4 | G-protein signaling N-RAS regulation pathway |
G-protein signaling N-RAS regulation pathway
.52
|
Immune response Antigen presentation by MHC class II
.52
|
5 | Class I MHC mediated antigen processing and presentation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0009617 | response to bacterium | IBA | 21873635 |
GO:0050776 | regulation of immune response | TAS | -- |
GO:0050852 | T cell receptor signaling pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
3-Indolebutyric acid | Experimental | Pharma | Target | 0 |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs397514259 | Pathogenic: T-cell receptor alpha/beta deficiency | 22,550,664(+) |
G/A NG_001332.2:g.1074699G>A |
Disorder | Aliases | PubMed IDs |
---|---|---|
t-cell receptor-alpha/beta deficiency |
|