TRB - T cell receptor beta locus Gene

Also Known as TCRB; TRB@

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6957

Summary

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]

Molecular Function GO Annotation Evidence References Source
enables signaling receptor activity IDA
IDA: Inferred from direct assay
31959982 GOA
Biological Process GO Annotation Evidence References Source
involved in T cell mediated cytotoxicity directed against tumor cell target IDA
IDA: Inferred from direct assay
31959982 GOA
involved in detection of tumor cell IDA
IDA: Inferred from direct assay
31959982 GOA
Cellular Component GO Annotation Evidence References Source
part of alpha-beta T cell receptor complex IDA
IDA: Inferred from direct assay
31959982 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Related Diseases

Diseases Alias
Trypsinogen Deficiency
  • Pancreatic Trypsinogen Deficiency

Vitamin D-Dependent Rickets, Type 2a
  • Hvdrr

  • Generalized Resistance To 1,25-Dihydroxyvitamin D

  • Hypocalcemic Vitamin D-Resistant Rickets

  • VDDR2A

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  • Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

  • Pddr Iia

  • Rickets-Alopecia Syndrome

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  • Vitamin D-Dependent Rickets, Type 2

  • Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

  • Generalized 1,25-Dihydroxyvitamin D

  • Pseudovitamin D-Deficiency, Type Iia

  • Hereditary Vitamin D-Resistant Rickets

  • Vddr Ii

  • Vdrr Ii

  • Vitamin D-Dependent Rickets Type Ii

  • Vitamin D-Resistant Rickets Type Ii

  • Rickets Vitamin D-Dependent 2a

  • Pseudovitamin D-Deficiency Type Iia

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  • Type Iia Rickets

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  • Familial Hypophosphatemic Rickets

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Prss1-Related Hereditary Pancreatitis
Pancreatitis, Hereditary
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  • Hp

  • Pancreatitis, Chronic, Susceptibility To

  • PCTT

  • Hpc

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  • Familial Pancreatitis

  • Cp

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Precursor T-Cell Acute Lymphoblastic Leukemia
  • T-All

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  • Precursor T-Cell Acute Lymphocytic Leukemia

  • Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Adult T-Cell Lymphoma/Leukemia

Granulomatous Slack Skin Disease
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  • Lymphocytosis

T-Cell Large Granular Lymphocyte Leukemia
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  • Large Cell Granular Lymphogenous Leukemia

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Thymoma
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Reticulosarcoma
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  • Histiocytic Sarcoma

Pleurisy
Juvenile Rheumatoid Arthritis
  • Juvenile Idiopathic Arthritis

  • Juvenile Chronic Polyarthritis

  • Monarticular Juvenile Rheumatoid Arthritis

  • Pauciarticular Juvenile Arthritis

  • Still'S Disease

  • Systemic Juvenile Rheumatoid Arthritis

  • Juvenile Chronic Arthritis

  • Acute Juvenile Rheumatoid Arthritis

  • Pauciarticular Onset Juvenile Chronic Arthritis

  • Arthritis, Juvenile Rheumatoid

  • Jia

  • Jra

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  • Arthritis Juvenile Rheumatoid

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  • Juvenile Arthritis

  • Acute Polyarticular Juvenile Rheumatoid Arthritis

  • Pauciarticular Juvenile Rheumatoid Arthritis

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Relapsing-Remitting Multiple Sclerosis
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  • Multiple Sclerosis, Relapsing-Remitting

  • Rrms

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Sezary'S Disease
  • Sezary Syndrome

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Primary Cutaneous T-Cell Non-Hodgkin Lymphoma
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Aplastic Anemia
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  • Secondary Aplastic Anemia

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  • AA

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  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

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  • Hypoplastic Anaemia Nos

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  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

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  • Panmyelophthisis

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  • Idiopathic Aplastic Anaemia Nos

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Myelodysplastic Syndrome
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  • Myelodysplastic Syndrome, Susceptibility To

Connective Tissue Disease
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  • Connective Tissue Disorder

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Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma