CD38
Chr 4CD38 molecule
Also known as: ADPRC 1, ADPRC1, cADPR1
The protein is a transmembrane glycoprotein that synthesizes cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, serving as second messengers for calcium mobilization and glucose-induced insulin secretion, and also functions as a receptor for lymphocyte activation and migration. Mutations cause CD38 deficiency, an autosomal recessive primary immunodeficiency characterized by recurrent infections and impaired antibody responses. The gene is highly tolerant to loss-of-function variants (low pLI score), consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
Protein Context — Lollipop Plot
CD38 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Combination CAR-T Cell Therapy Targeting Hematological Malignancies
RECRUITINGDaratumumab for Familial Cerebral Cavernous Malformations: A Single-Arm Safety and Efficacy Study
NOT YET RECRUITINGComparing the Combination of Selinexor-Daratumumab-Velcade-Dexamethasone (Dara-SVD) With the Usual Treatment (Dara-RVD) for High-Risk Newly Diagnosed Multiple Myeloma
ACTIVE NOT RECRUITINGGenomic Analysis to Identify a Predictive Biomarker for Immunotherapy
RECRUITINGIntraperitoneal FT536 in Recurrent Ovarian, Fallopian Tube, and Primary Peritoneal Cancer
ACTIVE NOT RECRUITINGCAR-T Immunotherapy Targeting CD19- ALL
RECRUITINGMulti Interventional Approaches to Mitigate HIV Reservoirs Aiming the Sustained HIV Remission Without Antiretrovirals
NOT YET RECRUITINGPrecision Microbiota Interventions for Senoreduction Trial
NOT YET RECRUITINGRole of Adrenomedullin in Leukemic Endosteal/Vascular Niches
ACTIVE NOT RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of CLL1 and CD38 Dual-Target CAR-T Cell Injection in the Treatment of Relapsed or Refractory Acute Myeloid Leukemia
RECRUITINGStudy of Elranatamab for Relapsed or Refractory Myeloma in Patients Previously Exposed to Three-drug Classes
RECRUITINGComparing Combinations of Drugs to Treat Newly Diagnosed Multiple Myeloma (NDMM) When a Stem Cell Transplant is Not a Medically Suitable Treatment
RECRUITINGExternal Resources
Links to major genomics databases and tools