CD38 Gene (Cluster of Differentiation 38): Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the CD38 gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | CD38 |
|---|---|
| Full Name | CD38 molecule |
| Gene Type | protein coding |
| Chromosomal Location | 4p15.32 |
| NCBI Gene ID | 952 ncbi.nlm.nih.gov/gene/952 |
| Ensembl ID | ENSG00000004468 |
| UniProt ID | P28907 |
| OMIM ID | 107270 |
| HGNC ID | 1667 |
| Aliases | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase; T10 |
Description
The CD38 gene encodes a type II transmembrane glycoprotein that functions as both an ADP-ribosyl cyclase and a cyclic ADP-ribose hydrolase. It is involved in calcium signaling, cell adhesion, and immune regulation. CD38 is expressed on various immune cells and is a key therapeutic target in multiple myeloma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | CD38 is highly expressed on myeloma cells; antibody-dependent cellular cytotoxicity and direct apoptosis via daratumumab | ClinVar, COSMIC |
| Chronic Lymphocytic Leukemia | CD38 expression correlates with poor prognosis; promotes proliferation and survival | ClinVar |
| Systemic Lupus Erythematosus | CD38 overexpression on B cells contributes to autoantibody production | OMIM |
| HIV Infection | CD38 expression on CD8+ T cells is a marker of immune activation and disease progression | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High | High |
| Spleen | High | High |
| Lymph Node | High | High |
| Blood | Medium | Medium |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RPMI-8226 (Myeloma) | High | Overexpressed in multiple myeloma cell lines |
| K-562 (Leukemia) | Medium | Moderate expression |
| HeLa (Cervical) | Low | Low expression |
| MCF7 (Breast) | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296A>G (p.Asn99Ser) | Missense | Rare | Alters enzymatic activity; potential effect on calcium signaling |
| c.469C>T (p.Arg157Trp) | Missense | Rare | May affect protein stability |
| c.724G>A (p.Val242Met) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce enzymatic activity or protein expression may impair immune responses and calcium signaling.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression is more common in disease.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CD38.
View complete mutation data：
Gene Ontology (GO)
| • ADP-ribosyl cyclase activity | • cyclic ADP-ribose hydrolase activity |
| • NAD+ nucleosidase activity | • protein binding |
| • extracellular exosome | • plasma membrane |
| • integral component of membrane |
Pathways
• Calcium signaling pathway
• Immune system (Regulation of T cell activation)
• NAD+ metabolism
Protein Summary
The CD38 protein is a 45 kDa type II transmembrane glycoprotein with a short N-terminal cytoplasmic tail and a long extracellular domain. It catalyzes the synthesis and hydrolysis of cyclic ADP-ribose (cADPR), a second messenger involved in calcium mobilization. CD38 also functions as a receptor in cell adhesion and signaling. Its expression is tightly regulated during immune cell development and activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD38 Knockout HEK293 Cell Line | EDJ-KQ1619 | Human | 952 | Details Get a Quote |
| CD38 Knockout A-549 Cell Line | EDJ-KQ21314 | Human | 952 | Details Get a Quote |
| Cd38 Knockout MC-38 Cell Line | EDJ-KZ140 | Mouse | 12494 | Details Get a Quote |
| CD38 Knockout HeLa Cell Line | EDJ-KQ52838 | Human | 952 | Details Get a Quote |
| CD38 Knockout HCT 116 Cell Line | EDJ-KQ69801 | Human | 952 | Details Get a Quote |
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