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  2. CD3D - CD3 delta subunit of T-cell receptor complex Gene

CD3D - CD3 delta subunit of T-cell receptor complex Gene

中文名称:T 细胞受体复合物的 CD3 δ 亚基

种属: Homo sapiens

同用名: T3D; IMD19; CD3DELTA; CD3-DELTA

基因 ID: 915 | 基因类型: protein coding

关于 CD3D

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,338,954-118,342,705 (from NCBI)

This gene has 8 transcripts (splice variants), 146 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 30.2), appendix (RPKM 14.7) and 9 other tissues.

功能概要

该基因编码的蛋白质是 T 细胞受体/CD3 复合物 (TCR/CD3 复合物) 的一部分,参与 T 细胞发育和信号转导。编码的膜蛋白代表 CD3 复合物的 delta 亚基,并与其他四个 CD3 亚基一起结合 TCR alpha/beta 或 TCR gamma/delta,在 T 细胞表面形成 TCR/CD3 复合物。该基因的缺陷是导致严重联合免疫缺陷常染色体隐性 T 细胞阴性/B 细胞阳性/NK 细胞阳性 (SCIDBNK) 的原因。已发现该基因的两个转录本变体编码不同的亚型。也可能存在其他变体,但尚未确定其转录本的全长性质。[RefSeq 提供,2009 年 2 月]

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]

CD3D 基因产物(2)

mRNA Protein Name
NM_000732.6 NP_000723.1 T-cell surface glycoprotein CD3 delta chain isoform A precursor
NM_001040651.2 NP_001035741.1 T-cell surface glycoprotein CD3 delta chain isoform B precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
14967045 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of T cell receptor complex IDA
IDA: 通过直接分析推断
8176201 GOA
part of alpha-beta T cell receptor complex IDA
IDA: 通过直接分析推断
9485181 GOA
part of alpha-beta T cell receptor complex IPI
IPI: 通过物理相互作用推断
31461748 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
31461748 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

CD3D 蛋白结构

ITAM

ITAM: Immunoreceptor tyrosine-based activation motif (146 - 165)

  • 0
  • 100
  • 171 a.a.
蛋白主名 其他名称

T-cell surface glycoprotein CD3 delta chain

CD3 antigen, delta subunit

重组 CD3D 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7879 CD3D Protein, Human (HEK293, His) P04234 (F22-A105) ≥95%
HY-P70434 CD3D-CD3E Heterodimer Protein, Human (HEK293, Fc-Flag&Fc-His) P04234 (F22-A105)&P07766 (D23-D126) ≥95%
HY-P72726 CD3D-CD3E Heterodimer Protein, Human (HEK293, His) P04234 (F22-A105)&P07766 (D23-D126) ≥95%
HY-P73498 CD3D-CD3E Heterodimer Protein, Human (HEK293, Flag-His) P04234 (F22-A105)&P07766 (D23-D126) ≥95%
HY-P74301 CD3D-CD3E Heterodimer Protein, Human (HEK293) P04234 (F22-A105)&P07766 (D23-D126) ≥95%
HY-P77610 CD3D-CD3E Heterodimer Protein, Human (HEK293, Fc) P04234-1 (F22-A105)&P07766 (D23-D126) ≥95%
HY-P77612 CD3D-CD3E Heterodimer Protein, Human (Biotinylated, HEK293, Fc-Avi) P04234-1 (F22-A105)&P07766 (D23-D126) ≥95%

关联疾病

疾病名称 别名
Immunodeficiency 19

IMD19

Cd3-Delta Deficiency

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Cd3delta Deficiency

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

Immunodeficiency 19, Severe Combined

Cd3d

Scid T Cell-Negative, B Cell-Positive, Nk Cell-Positive

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency

Immunodeficiency, Type 19

T-B+ Severe Combined Immunodeficiency Due To Cd3delta/Cd3epsilon/Cd3zeta

T-B+ Scid Due To Cd3delta/Cd3epsilon/Cd3zeta

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Immunodeficiency 18

IMD18

Cd3-Epsilon Deficiency

Immunodeficiency 18, Scid Variant

Cd3epsilon Deficiency

Immunodeficiency 18, Severe Combined Immunodeficiency Variant

Immunodeficiency, Type 18

Immunodeficiency 17

IMD17

Cd3-Gamma Deficiency

Scid-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive

Combined Immunodeficiency Due To Cd3gamma Deficiency

Immunodeficiency 17, Cd3 Gamma Deficient

Cd3gamma Deficiency

Immunodeficiency, Type 17

Cd3zeta Deficiency
Granulomatous Disease, Chronic, Autosomal Recessive, 3

CGD3

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii

Granulomatous Disease, Chronic, Due To Ncf4 Deficiency

Chronic Granulomatous Disease 3, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 3

Autosomal Recessive Cytochrome B-Positive Cgd Type Iii

Cdg3

Chronic Granulomatous Disease Due To Ncf4 Deficiency

Cgd Autosomal Recessive Cytochrome B-Positive Type Iii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii

Granulomatous Disease Chronic Due To Ncf4 Deficiency

Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3

Coronin-1a Deficiency
Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency

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
Macaca mulatta CD3D VGNC VGNC:107436
Felis catus CD3D VGNC VGNC:60616
Rattus norvegicus CD3D RGD RGD:2304
Bos taurus CD3D VGNC VGNC:27028
Canis familiaris CD3D VGNC VGNC:38954
Mus musculus CD3D MGD MGI:88331
Macaca fascicularis CD3D NCBI NCBI:102133701
Others CD3D NCBI