CD38
Chr 4CD38 molecule
Also known as: ADPRC 1, ADPRC1, cADPR1
The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
95 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 48 | 0 | 48 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 33 | 4 | 0 | 38 |
Likely Benign | 0 | 3 | 1 | 0 | 4 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 1 | 36 | 57 | 1 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Comparing Combinations of Drugs to Treat Newly Diagnosed Multiple Myeloma (NDMM) When a Stem Cell Transplant is Not a Medically Suitable Treatment
RECRUITINGSafety 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)
RECRUITINGGenomic Analysis to Identify a Predictive Biomarker for Immunotherapy
RECRUITINGDaratumumab for Familial Cerebral Cavernous Malformations: A Single-Arm Safety and Efficacy Study
NOT YET RECRUITINGStudy of Autophagy and the Effects of GALIG Gene Products in HIV-1 Infected Patients Who Are Under Antiretroviral Therapy Since Primary-infection, Chronic Phase, or Never Treated.
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
RECRUITINGPrecision Microbiota Interventions for Senoreduction Trial
NOT YET RECRUITINGExpression-linked and R-ISS-adapted Stratification for First Line Therapy in Multiple Myeloma Patients
RECRUITINGThe Developmental Origins of Obesity
RECRUITINGStudy of Elranatamab for Relapsed or Refractory Myeloma in Patients Previously Exposed to Three-drug Classes
RECRUITINGPhase I/II Clinical Trial of Universal Donor CD33 CAR Natural Killer Cells for AML
NOT YET RECRUITINGRole of Adrenomedullin in Leukemic Endosteal/Vascular Niches
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools