CD274
Chr 9ARCD274 molecule
Also known as: ADMIO5, B7-H, B7H1, PD-L1, PDCD1L1, PDCD1LG1, PDL1, hPD-L1
This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
CD274 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
SUV PDL1/PD1 in Sun Damaged & Sun Protected Human Skin of Participants
RECRUITINGEarly Rebiopsy to Identify Biomarkers of Tumor Cell Survival Following EGFR, ALK, ROS1 or BRAF TKI Therapy
RECRUITINGQuaratusugene Ozeplasmid (Reqorsa) and Atezolizumab Maintenance Therapy in ES-SCLC Patients
RECRUITINGAn Open-label, Single-arm Clinical Study of Stapokibart Injection in Combination with Tislelizumab Injection in Patients with Non-Small Cell Lung Cancer
NOT YET RECRUITINGTiragolumab and Atezolizumab in Advanced Pan-cancer Patients
RECRUITINGPHOENIX: QL1706 Plus Chemotherapy and Bevacizumab in AGA-Resistant, PD-L1 ≥50% Non-Squamous NSCLC
NOT YET RECRUITINGRandomized Trial Comparing Standard of Care Versus Immune- Based Combination in Relapsed Stage III Non-small-cell Lung Cancer (NSCLC) Pretreated With Chemoradiotherapy and Durvalumab
RECRUITINGImmunotherapy Adjuvant Trial in Patients With Stage I-III Merkel Cell Carcinoma
ACTIVE NOT RECRUITINGA Single Center, Single Arm Clinical Study on the Treatment of Advanced Non-small Cell Lung Cancer With Positive EGFR Sensitive Mutations and Failed EGFR TKIs With the Combination of Enrotinib and Paclitaxel Monoclonal Antibody
NOT YET RECRUITINGClinical Study on the Prevention of Driver Gene Negative II-IIIa Lung Cancer Recurrence and Metastasis by Staged Chinese Herbal Medicine Combined With Chemotherapy and Immune Checkpoint Inhibitors
NOT YET RECRUITINGA Study to Investigate Mechanisms of Resistance to Breast Cancer Therapies
RECRUITINGDouble Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools