CD274

Chr 9

CD274 molecule

Also known as: ADMIO5, B7-H, B7H1, PD-L1, PDCD1L1, PDCD1LG1, PDL1, hPD-L1

NCBI Gene: 29126 ENSG00000120217 UniProt: Q9NZQ7

The protein is an immune inhibitory receptor ligand that regulates T-cell activation and maintains immune tolerance by limiting T-cell effector responses and preventing autoimmunity. Mutations cause autoimmune disease with multisystem involvement and infantile onset, inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAutoimmune disease, multisystem, infantile-onset, 5

Active trials

348

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.80LOEUF

pLI 0.019

Z-score 2.08

OE 0.38 (0.20–0.80)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.90Z-score

OE missense 0.80 (0.69–0.93)

123 obs / 154.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.38 (0.20–0.80)

0≤0.351.4

Missense OE?0.80 (0.69–0.93)

0≤0.61.4

Synonymous OE?1.23

0≤1.21.6

LoF obs/exp: 5 / 13.1Missense obs/exp: 123 / 154.4Syn Z: -1.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

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

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Lung CancerTKI ResistanceEGFR Sensitive Mutation

A 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 RECRUITING

NCT06048315Phase PHASE3Degan LuStarted 2023-09

AnlotinibPenpulimab

Diabetes, Type I

A First-in-human Clinical Trial Using a Gene Therapy With Patient's Own Stem Cells to Treat Early Type 1 Diabetes

NOT YET RECRUITING

NCT06938334Phase PHASE1, PHASE2Altheia ScienceStarted 2025-08-15

Autologous CD34+ cell enriched population containing HSPCs transduced ex vivo using a LVV encoding the hPD-L1 DNA

Recurrent Plasma Cell MyelomaRefractory Plasma Cell Myeloma

Bortezomib and Pembrolizumab With or Without Pelareorep for the Treatment of Relapsed or Refractory Multiple Myeloma, AMBUSH Trial

ACTIVE NOT RECRUITING

NCT05514990Phase PHASE1, PHASE2University of Southern CaliforniaStarted 2022-10-07

BortezomibDexamethasonePelareorep

Non-small Cell Lung Cancer

A Trial to Learn How the Combination of Fianlimab With Cemiplimab and Chemotherapy Works Compared With Cemiplimab and Chemotherapy for Treating Adult Patients With Advanced Non-small Cell Lung Cancer

ACTIVE NOT RECRUITING

NCT05800015Phase PHASE2, PHASE3Regeneron PharmaceuticalsStarted 2023-08-08

fianlimabcemiplimabPemetrexed

Rare Malignant NeoplasmAdvanced Solid TumorsMetastatic Solid Tumors

Rare Tumor Focused Platform Study of Innovative Therapies and Technologies (PLATFORM2)

NOT YET RECRUITING

NCT07307053Phase PHASE1, PHASE2Cancer Institute and Hospital, Chinese Academy of Medical SciencesStarted 2026-01-01

BL-B01D1VSV injectionCVL006

Advanced or Metastatic Solid TumorPancreatic Ductal AdenocarcinomaColorectal Cancer

AB122 Platform Study

RECRUITING

NCT04999761Phase PHASE1Taiho Pharmaceutical Co., Ltd.Started 2021-06-01