CD3G Gene (CD3 Gamma Subunit of T-Cell Receptor Complex): Function, Disease Associations, and Expression
A comprehensive biomedical overview of CD3G, including genomic data, protein function, associated diseases, tissue and cell expression, mutations, and pathways.
Gene Information Card
| Symbol | CD3G |
|---|---|
| Full Name | CD3 gamma subunit of T-cell receptor complex |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 917 ncbi.nlm.nih.gov/gene/917 |
| Ensembl ID | ENSG00000160654 |
| UniProt ID | P09693 |
| OMIM ID | 186740 |
| HGNC ID | 1675 |
| Aliases | T3G, CD3-GAMMA, IMD17 |
Description
The CD3G gene encodes the CD3 gamma polypeptide, a component of the T-cell receptor (TCR) complex. CD3 gamma, along with CD3 delta, epsilon, and zeta, is essential for TCR assembly, signal transduction, and T-cell development. Mutations in CD3G cause immunodeficiency due to impaired T-cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 17 (IMD17) | Loss-of-function mutations in CD3G impair TCR signaling, leading to defective T-cell activation and immune response. | ClinVar, OMIM |
| Severe combined immunodeficiency (SCID) (in some cases) | Biallelic mutations causing complete CD3 gamma deficiency result in T-cell lymphopenia and severe infections. | OMIM, PubMed via NCBI |
| Autoimmune diseases (susceptibility) | Partial CD3 gamma deficiency may predispose to autoimmunity due to altered T-cell regulation. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymphoid tissues (spleen, lymph nodes, thymus) | High (nTPM ~ 50-100) | High expression in T-cell-rich tissues |
| Blood (leukocytes) | High (nTPM ~ 30-50) | T cells are major expressors |
| Bone marrow | Moderate (nTPM ~ 10-30) | T-cell precursors |
| Lung | Low (nTPM < 10) | Resident T cells |
| Brain | Very low (nTPM < 1) | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | High (nTPM ~ 100) | T-cell line, used as model |
| MOLT-4 (T-cell lymphoblastic leukemia) | High (nTPM ~ 80) | T-cell line |
| K-562 (chronic myelogenous leukemia) | Low (nTPM ~ 5) | Non-T cell line |
| HeLa (cervical carcinoma) | Very low (nTPM < 1) | Non-hematopoietic |
| A549 (lung carcinoma) | Low (nTPM < 1) | Non-hematopoietic |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Cys) | Missense | Rare (found in IMD17) | Impairs CD3 gamma dimerization with CD3 epsilon, reducing TCR surface expression |
| c.IVS2+1G>A (splice site) | Splice donor | Rare (found in SCID) | Skipping of exon 2, frameshift, loss of protein |
| c.205C>T (p.Arg69Trp) | Missense | Rare (found in IMD17) | Disrupts CD3 gamma interaction with TCR alpha/beta |
| c.193A>G (p.Lys65Glu) | Missense | Rare (found in IMD17) | Alters CD3 gamma structure, reduced stability |
Mutation functional classification
Loss of Function (LOF)
Most CD3G mutations are loss-of-function, leading to reduced or absent CD3 gamma protein, impaired TCR complex assembly, and defective T-cell signaling.
Gain of Function (GOF)
No gain-of-function mutations reported for CD3G.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with TCR complex assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • T cell receptor complex | • protein binding |
| • transmembrane signaling receptor activity | • plasma membrane |
| • immune response | • T cell activation |
| • signal transduction |
Pathways
• T cell receptor signaling pathway (KEGG hsa04660)
• Antigen processing and presentation (KEGG hsa04612)
• Th1 and Th2 cell differentiation (KEGG hsa04658)
• PD-1 checkpoint pathway (Reactome R-HSA-389948)
Protein Summary
CD3 gamma is a 20 kDa transmembrane protein with an extracellular immunoglobulin-like domain, a transmembrane region, and a cytoplasmic tail containing immunoreceptor tyrosine-based activation motifs (ITAMs). It forms heterodimers with CD3 epsilon (γε) and with CD3 delta (δε) in the TCR complex. Upon antigen recognition, CD3 gamma ITAMs are phosphorylated by LCK, recruiting ZAP70 and initiating downstream signaling cascades that lead to T-cell activation and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD3G Knockout HEK293 Cell Line | EDJ-KQ4215 | Human | 917 | Details Get a Quote |
| CD3G Knockout HeLa Cell Line | EDJ-KQ52814 | Human | 917 | Details Get a Quote |
| CD3G Knockout A-549 Cell Line | EDJ-KQ61285 | Human | 917 | Details Get a Quote |
| CD3G Knockout HCT 116 Cell Line | EDJ-KQ69780 | Human | 917 | Details Get a Quote |
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