PDCD1

Chr 2AR

programmed cell death 1

Also known as: ADMIO4, AIMTBS, CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l

NCBI Gene: 5133 ENSG00000188389 UniProt: Q15116 OMIM: 600244

Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Autoimmune disease, multisystem, infantile-onset, 4MIM #621004

Clinical highlights

Gene-disease validity (ClinGen)

autoimmune disease · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

274

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.66LOEUF

pLI 0.417

Z-score 2.26

OE 0.21 (0.09–0.66)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.29Z-score

OE missense 0.74 (0.64–0.85)

139 obs / 189.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.09–0.66)

0≤0.351.4

Missense OE?0.74 (0.64–0.85)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 2 / 9.5Missense obs/exp: 139 / 189.1Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDCD1 · 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

Cutaneous Squamous Cell Carcinoma

Neoadjuvant Nivolumab and Relatlimab in Cutaneous Squamous Cell Carcinoma

RECRUITING

NCT06288191Phase PHASE2Melanoma Institute AustraliaStarted 2024-06-21

Nivolumab 240 mg / Relatlimab 80 mg in a fixed dose combination

Cervical CancerGynecologic MalignanciesEndometrial Cancer

The Safety, Tolerability, and Efficacy of KD01 in Gynecologic Malignancies

RECRUITING

NCT06552598Phase PHASE1Tongji HospitalStarted 2024-04-01

KD01(the recombinant oncolytic adenovirus)

Melanoma

Effects of Anti-PD1 Adjuvant Checkpoint Blockade Immunotherapy on Atypical/Dysplastic Nevi

RECRUITING

NCT06599619John KirkwoodStarted 2025-02-20

Single agent, adjuvant anti-PD1 therapy

Metastatic Colorectal AdenocarcinomaRefractory Colorectal AdenocarcinomaStage III Colorectal Cancer AJCC v8

Testing the Effectiveness of the Anti-cancer Drug Pidnarulex (CX-5461), in Combination With Another Anti-cancer Drug Cemiplimab (REGN2810), in Treating Refractory Microsatellite Stable Colorectal Cancer

RECRUITING

NCT07147231Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2026-08-10

Biopsy ProcedureBiospecimen CollectionCemiplimab

Non-muscle Invasive Bladder Cancer With Carcinoma in Situ

A Trial to Evaluate Intravesical Nadofaragene Firadenovec Alone or in Combination With Chemotherapy or Immunotherapy in Participants With High-grade BCG Unresponsive Non-muscle Invasive Bladder Cancer

RECRUITING

NCT06545955Phase PHASE3Ferring PharmaceuticalsStarted 2024-10-01

Nadofaragene FiradenovecGemcitabineDocetaxel

Malignant Neoplasm

KEYMAKER-U01 Substudy 01J: A Study of Pembrolizumab Plus MK-1084 in Participants With Non-Small Cell Lung Cancer (NSCLC) With Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) G12C Mutations (MK-3475-01J/KEYMAKER-U01J)

RECRUITING

NCT07252739Phase PHASE2Merck Sharp & Dohme LLCStarted 2025-12-19

MK-1084PembrolizumabCetuximab

Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Treatment for Advanced Non-small Cell Lung Cancer With Actionable Genomic Alterations After Targeted Treatment and Chemotherapy (An Expanded Lung-MAP Treatment Trial)

NOT YET RECRUITING

NCT07393555Phase PHASE2SWOG Cancer Research NetworkStarted 2026-08-07

Biospecimen CollectionComputed TomographyIvonescimab

Gastric Cancer

Biomarker Analysis of HIPEC Combined With PD1/PDL1 Inhibitor for Gastric Cancer With Peritoneal Metastasis

NOT YET RECRUITING

NCT05661110Affiliated Cancer Hospital & Institute of Guangzhou Medical UniversityStarted 2023-01-01

Observational

Multiple Myeloma

A Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma

RECRUITING

NCT06700395Phase PHASE1Chia Tai Tianqing Pharmaceutical Group Nanjing Shunxin Pharmaceutical Co., Ltd.Started 2024-11-28