CD274 (PD-L1): Immune Checkpoint Gene in Cancer and Autoimmunity
Comprehensive genomic and functional overview of CD274, encoding PD-L1, a key immune regulatory protein targeted in immunotherapy.
Gene Information Card
| Symbol | CD274 |
|---|---|
| Full Name | CD274 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 29126 ncbi.nlm.nih.gov/gene/29126 |
| Ensembl ID | ENSG00000120217 |
| UniProt ID | Q9NZQ7 |
| OMIM ID | 605402 |
| HGNC ID | 17635 |
| Aliases | PD-L1, PDCD1L1, B7-H1, B7H1 |
Description
CD274 (also known as PD-L1) encodes the programmed death-ligand 1 protein, a transmembrane immune checkpoint molecule. PD-L1 binds to PD-1 on T cells, inhibiting T-cell activation and promoting immune tolerance. Overexpression in tumors facilitates immune evasion, making CD274 a critical target for cancer immunotherapy. The gene is located on chromosome 9p24.1 and is regulated by interferon-gamma and other inflammatory signals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-small cell lung cancer | Tumor cells overexpress PD-L1, binding PD-1 on T cells to suppress anti-tumor immunity. | ClinVar, COSMIC |
| Breast cancer | PD-L1 expression correlates with poor prognosis and immune evasion. | NCBI Gene, OMIM |
| Melanoma | PD-L1 upregulation via copy number gains or JAK2 amplification reduces T-cell infiltration. | COSMIC, ClinVar |
| Rheumatoid arthritis | PD-L1 expression on synovial fibroblasts may modulate local immune responses. | OMIM, UniProt |
| Systemic lupus erythematosus | Altered PD-L1 expression contributes to dysregulated T-cell activity. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 9.8 | Medium |
| Lymph node | 8.5 | Medium |
| Bone marrow | 6.2 | Low |
| Small intestine | 5.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| MCF7 (breast carcinoma) | 8.7 | Medium expression |
| HeLa (cervical carcinoma) | 6.3 | Low expression |
| K562 (leukemia) | 4.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of function; start codon loss |
| c.232C>T (p.Arg78Trp) | Missense | 0.2% | Unknown significance; reported in COSMIC |
| c.497G>A (p.Arg166Gln) | Missense | 0.1% | Unknown significance; ClinVar |
| c.702C>T (p.=) | Synonymous | 0.3% | No protein change |
| Amplification | Copy number gain | Variable | Gain of function; increased PD-L1 expression in tumors |
Mutation functional classification
Loss of Function (LOF)
Rare missense or nonsense variants (e.g., p.Met1?) that abolish protein expression or PD-1 binding.
Gain of Function (GOF)
Copy number amplifications or promoter alterations leading to PD-L1 overexpression, common in Hodgkin lymphoma and lung cancer.
Dominant Negative (DN)
Not well documented for CD274; most reported variants are either loss-of-function or neutral.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 – plasma membrane | • GO:0009897 – external side of plasma membrane |
| • GO:0038023 – signaling receptor binding | • GO:0042802 – identical protein binding |
| • GO:0045087 – innate immune response | • GO:0050776 – regulation of immune response |
| • GO:0006955 – immune response | • GO:0007165 – signal transduction |
Pathways
• PD-1 signaling (Reactome: R-HSA-389948)
• Immune checkpoint pathway (KEGG: hsa05340)
• Adaptive immune system (Reactome: R-HSA-1280218)
Protein Summary
PD-L1 (UniProt Q9NZQ7) is a 290-amino acid type I transmembrane protein with an extracellular Ig-like V-type domain and a short cytoplasmic tail. It is expressed on antigen-presenting cells, T cells, and many tumor cells. Binding to PD-1 delivers an inhibitory signal that reduces T-cell proliferation, cytokine production, and cytotoxicity. PD-L1 is a key target for immune checkpoint inhibitors (e.g., atezolizumab, durvalumab) used in multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD274 Knockout HEK293 Cell Line | EDC07777 | Human | 29126 | Details Get a Quote |
| CD274 Knockout A-549 Cell Line | EDJ-KQ41970 | Human | 29126 | Details Get a Quote |
| CD274 Knockout HCT 116 Cell Line | EDC07704 | Human | 29126 | Details Get a Quote |
| CD274 Knockout HeLa Cell Line | EDC08222 | Human | 29126 | Details Get a Quote |
| CD274 Knockout 786-O Cell Line | EDJ-KZ137 | Human | 29126 | Details Get a Quote |
| Cd274 Knockout MC-38 Cell Line | EDJ-KZ138 | Mouse | 29126 | Details Get a Quote |
| CD274 Overexpression HEK293 Stable Cell Line | EDJ-GQ93 | Human | 29126 | Details Get a Quote |
| CD274 Overexpression Raji Stable Cell Line | EDJ-GQ94 | Human | 29126 | Details Get a Quote |
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