1. Gene
  2. TRB - T cell receptor beta locus Gene

TRB - T cell receptor beta locus Gene

中文名称:细胞受体β位点

种属: Homo sapiens

同用名: TCRB; TRB@

基因 ID: 6957 | 基因类型: protein coding

关于 TRB

功能概要

细胞受体识别已被加工成小肽并与抗原呈递细胞 (APC) 表面的主要组织相容性复合体 (MHC) 分子结合的外来抗原。每个 T 细胞受体都是一个二聚体,由一条α链和一条β链或一条δ链和一条γ链组成。在单个细胞中,T 细胞受体基因座以 delta、gamma、beta 和 alpha 的顺序重新排列和表达。如果 delta 和 gamma 重排都产生功能链,则细胞表达 delta 和 gamma。如果不是,细胞会继续重新排列 beta 和 alpha 位点。该区域代表 T 细胞受体 β 基因座的种系组织。 Beta 基因座包括 V (可变) 、J (连接) 、多样性 (D) 和 C (恒定) 片段。在 T 细胞发育过程中,β 链是通过 DNA 水平的重组事件合成的,将 D 片段与 J 片段连接起来;然后将 V 片段连接到 DJ 基因。 C 段后来通过在 RNA 水平上的剪接连接。许多不同的 V 区段与几个 J 区段的重组提供了广泛的抗原识别。额外的多样性是通过连接多样性获得的,连接多样性是由末端脱氧核苷酸转移酶随机添加核苷酸引起的。已知 β 基因座的几个 V 区段和一个 J 区段不能编码蛋白质,被认为是假基因。 β 基因座还包括八个胰蛋白酶原基因,其中三个编码功能蛋白,另外五个是假基因。涉及 T 细胞受体 β 位点的染色体异常与 T 细胞淋巴瘤有关。[RefSeq 提供,2008 年 7 月]

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]

基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables signaling receptor activity IDA
IDA: 通过直接分析推断
31959982 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in T cell mediated cytotoxicity directed against tumor cell target IDA
IDA: 通过直接分析推断
31959982 GOA
involved in detection of tumor cell IDA
IDA: 通过直接分析推断
31959982 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of alpha-beta T cell receptor complex IDA
IDA: 通过直接分析推断
31959982 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

关联疾病

疾病名称 别名
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

Rickets, Hereditary Vitamin D-Resistant

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

Pddr Iia

Rickets-Alopecia Syndrome

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

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

Rickets Hereditary Vitamin D-Resistant

Type Iia Rickets

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

Vitamin D-Dependent Rickets, Type Ii

Familial Hypophosphatemic Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Prss1-Related Hereditary Pancreatitis
Pancreatitis, Hereditary

Hereditary Pancreatitis

Chronic Pancreatitis

Hereditary Chronic Pancreatitis

Hp

Pancreatitis, Chronic, Susceptibility To

PCTT

Hpc

Pancreatitis, Chronic

Pancreatitis, Chronic, Protection Against

Autosomal Dominant Hereditary Pancreatitis

Familial Pancreatitis

Cp

Pancreatitis Hereditary

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

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

Granulomatous Slack Skin

B-Cell Expansion With Nfkb And T-Cell Anergy

Benta Disease

BENTA

B-Cell Expansion With Nf-Kb And T-Cell Anergy Disease

Persistent Polyclonal B-Cell Lymphocytosis

Lymphocytosis

T-Cell Large Granular Lymphocyte Leukemia

Large Granular Lymphocytic Leukemia

Proliferation Of Large Granular Lymphocytes

T-Lgl

T-Cell Lgl Leukemia

Large Granular Lymphocytic Leukaemia

T-Cell Large Granular Lymphocyte Leukaemia

Large Cell Granular Lymphogenous Leukemia

T-Lgl Leukemia

Leukemia Lymphocytic Large Granular

Leukemia, Large Granular Lymphocytic

Thymoma

Primary Thymic Epithelial Neoplasm

Primary Thymic Epithelial Tumor

Thymus Neoplasms

Reticulosarcoma

Histiocytic Lymphoma

Large-Cell Lymphomas

Lymphoma, Large-Cell

Lymphoma Large Cell

Diffuse Large B-Cell Lymphoma

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

Juvenile Ra

Arthritis Juvenile Rheumatoid

Stills Disease

Juvenile Arthritis

Acute Polyarticular Juvenile Rheumatoid Arthritis

Pauciarticular Juvenile Rheumatoid Arthritis

Rheumatoid Arthritis, Systemic Juvenile

Relapsing-Remitting Multiple Sclerosis

Relapsing-Remitting Ms

Relapsing Remitting Multiple Sclerosis

Multiple Sclerosis, Relapsing-Remitting

Rrms

Multiple Sclerosis Relapsing-Remitting

Sezary'S Disease

Sezary Syndrome

Sézary Syndrome

Sezary'S Lymphoma

Sezary Disease

Sezary Erythroderma

Sezary Lymphoma

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma

Cutaneous T-Cell Lymphoma

Cutaneous T Cell Lymphoma

Lymphoma, T-Cell, Cutaneous

Ctcl

Lymphoma T-Cell Cutaneous

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Peripheral T-Cell Lymphoma

Lymphoma T-Cell Peripheral

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TRB NCBI