CD27

Chr 12AR

CD27 molecule

Also known as: S152, S152. LPFS2, T14, TNFRSF7, Tp55

NCBI Gene: 939 ENSG00000139193 UniProt: P26842 OMIM: 186711

CD27 encodes a costimulatory immune-checkpoint receptor on T-cells, NK-cells and B-cells that binds CD70 to mediate antigen-specific T-cell activation and expansion, providing immune surveillance of B-cells. Mutations cause lymphoproliferative syndrome 2, an autosomal recessive primary immunodeficiency characterized by abnormal lymphocyte proliferation and immune dysregulation. The gene shows low constraint to loss-of-function variants (pLI 0.01, LOEUF 0.92), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Lymphoproliferative syndrome 2MIM #615122

Clinical highlights

Gene-disease validity (ClinGen)

lymphoproliferative syndrome 2 · ARDefinitivesufficient evidence for diagnostic panels

Active trials

509

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — CD27

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CD27 · 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

📖

GeneReview available — CD27

Authoritative clinical overview · NCBI Bookshelf · Recommended first read

Open GeneReview ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Melanoma (Skin)

High-Dose Interferon Alfa in Treating Patients With Stage II or Stage III Melanoma

ACTIVE NOT RECRUITING

NCT00003641Phase PHASE3ECOG-ACRIN Cancer Research GroupStarted 1999-03-25

interferon alfa-2bobservation

Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency

Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)

RECRUITING

NCT05071222Phase PHASE1, PHASE2Assistance Publique - Hôpitaux de ParisStarted 2023-07-19

ARTEGENE drug product

Cutaneous Squamous Cell Carcinoma (CSCC)

Next-gen Flow Cytometry to Find Immune Profiles, Treatment Response, and Toxicity Markers in Skin Cancer Patients Treated With Cemiplimab.

RECRUITING

NCT07064330Instituto de Investigación Biomédica de SalamancaStarted 2025-07-17

Cemiplimab

HIV InfectionsAlcohol DrinkingAging

Precision Microbiota Interventions for Senoreduction Trial

NOT YET RECRUITING

NCT07462767Phase PHASE1, PHASE2Louisiana State University Health Sciences Center in New OrleansStarted 2026-04-01

Limosilactobacillus reuteriBlueberry extract

Breast Cancer Early Stage Breast Cancer (Stage 1-3)Prehabilitation

Multimodal Prehabilitation Program That Combines Physical Exercise, Psychological Intervention and Nutritional Support to Improve the Response to Neoadjuvant Chemoterhapy in Early Breast Cancer Patients

RECRUITING

NCT07107594Phase NAHospital Clinic of BarcelonaStarted 2025-01-14

Multimodal prehabilitation

Other Skin Changes Due to Chronic Exposure to Nonionizing Radiation

SUV PDL1/PD1 in Sun Damaged & Sun Protected Human Skin of Participants

RECRUITING

NCT06177106Phase NAUniversity of ArizonaStarted 2023-12-26

Solar Simulated Light

IgG4-related Disease

BCT301 in Treating Refractory/Recurrent IgG4-related Disease

NOT YET RECRUITING

NCT07793903Phase NAPeking University Third HospitalStarted 2026-10