CD70 Gene: CD70 Molecule
A key immune checkpoint ligand in T-cell and B-cell activation, with implications in cancer and autoimmunity.
Gene Information Card
| Symbol | CD70 |
|---|---|
| Full Name | CD70 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 970 ncbi.nlm.nih.gov/gene/970 |
| Ensembl ID | ENSG00000131051 |
| UniProt ID | P32970 |
| OMIM ID | 602840 |
| HGNC ID | 16937 |
| Aliases | TNFSF7, CD27L, CD27-L, Ki-24 antigen |
Description
CD70 (CD70 molecule) is a member of the tumor necrosis factor (TNF) superfamily, encoded by the TNFSF7 gene. It is a type II transmembrane glycoprotein that serves as the ligand for CD27, a costimulatory receptor on T and B lymphocytes. CD70 expression is tightly regulated and transiently upregulated on activated lymphocytes and dendritic cells. Constitutive or aberrant CD70 expression is observed in various hematologic malignancies and solid tumors, where it modulates immune responses. The CD70-CD27 axis is a target for cancer immunotherapy and is implicated in autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoma (e.g., diffuse large B-cell lymphoma) | Aberrant CD70 expression on tumor cells activates CD27 on T cells, promoting immune evasion or T-cell exhaustion. | ClinVar, COSMIC, NCBI Gene |
| Systemic lupus erythematosus (SLE) | Increased CD70 expression on T cells leads to overstimulation of B cells via CD27, contributing to autoantibody production. | OMIM, NCBI Gene |
| Immunodeficiency (e.g., CD27 deficiency) | Loss-of-function mutations in CD70 impair CD27 signaling, leading to defective T-cell help and B-cell memory. | ClinVar, OMIM |
| Renal cell carcinoma | CD70 overexpression on tumor cells correlates with poor prognosis and immune suppression. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 6.2 | Low |
| Thymus | 4.1 | Low |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 18.5 | High expression; B-cell line |
| Jurkat (T-cell leukemia) | 0.2 | Very low; T-cell line |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
| K562 (chronic myeloid leukemia) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.485C>T (p.Pro162Leu) | Missense | <0.01% | Impaired CD27 binding; loss of function |
| c.557G>A (p.Arg186Gln) | Missense | <0.01% | Reduced surface expression; loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt CD70 protein expression or CD27 binding lead to impaired immune costimulation, associated with immunodeficiency and susceptibility to viral infections.
Gain of Function (GOF)
Not well characterized; overexpression in tumors may act as a gain-of-function by promoting immune evasion, but no activating mutations are reported.
Dominant Negative (DN)
No dominant-negative mutations have been described for CD70.
View complete mutation data：
Gene Ontology (GO)
Pathways
• CD27/CD70 signaling in lymphocytes (Reactome: R-HSA-5673001)
• TNF superfamily signaling (KEGG: hsa04668)
• Immune checkpoint pathway (custom)
Protein Summary
CD70 is a 193-amino-acid type II transmembrane protein (UniProt P32970) with a short cytoplasmic domain (residues 1-17), a transmembrane region (18-38), and an extracellular TNF homology domain (39-193). It forms homotrimers and binds to CD27 (TNFRSF7) on T, B, and NK cells. CD70 expression is transient on activated lymphocytes and dendritic cells but is constitutively upregulated in several cancers, where it can either costimulate antitumor immunity or induce T-cell exhaustion depending on context. The CD70-CD27 interaction is critical for germinal center formation, antibody production, and memory B-cell generation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD70 Knockout HEK293 Cell Line | EDC07537 | Human | 970 | Details Get a Quote |
| CD70 Knockout A-549 Cell Line | EDJ-KQ18455 | Human | 970 | Details Get a Quote |
| CD70 Knockout HeLa Cell Line | EDJ-KQ19790 | Human | 970 | Details Get a Quote |
| CD70 Knockout HCT 116 Cell Line | EDJ-KQ69808 | Human | 970 | Details Get a Quote |
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