CD19 Gene: B-Lymphocyte Antigen CD19
A key B-cell surface molecule involved in immune signaling, development, and targeted cancer therapy.
Gene Information Card
| Symbol | CD19 |
|---|---|
| Full Name | CD19 Molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 930 ncbi.nlm.nih.gov/gene/930 |
| Ensembl ID | ENSG00000177455 |
| UniProt ID | P15391 |
| OMIM ID | 107265 |
| HGNC ID | 1633 |
| Aliases | B4, CVID3 |
Description
The CD19 gene encodes a transmembrane protein that is a key component of the B-cell receptor (BCR) complex. It functions as a co-receptor that lowers the threshold for B-cell activation and is essential for normal B-cell development and differentiation. CD19 is expressed on the surface of B cells from early stages of development until plasma cell differentiation. It is a well-established biomarker for B-cell lineage and is the target of several immunotherapies, including CAR-T cell therapy for B-cell malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 3 (CVID3) | Loss-of-function mutations in CD19 lead to impaired B-cell signaling and antibody production, resulting in common variable immunodeficiency. | OMIM, ClinVar |
| B-cell acute lymphoblastic leukemia (B-ALL) | CD19 is expressed on malignant B cells; targeted therapies such as CAR-T cells and bispecific antibodies exploit this expression. | COSMIC, literature |
| B-cell non-Hodgkin lymphoma | CD19 is expressed on malignant B cells and is a target for immunotherapy. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | High (nTPM ~ 200) | High expression in B-cell populations |
| Spleen | High (nTPM ~ 150) | High expression in B-cell zones |
| Lymph node | High (nTPM ~ 120) | High expression in B-cell areas |
| Bone marrow | Moderate (nTPM ~ 50) | Expression in developing B cells |
| Other tissues | Low/Not detected | Minimal expression outside immune tissues |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ramos (Burkitt lymphoma) | High | B-cell line with strong CD19 expression |
| Daudi (Burkitt lymphoma) | High | B-cell line with strong CD19 expression |
| Jurkat (T-cell leukemia) | Low | T-cell line with minimal CD19 expression |
| K562 (CML) | Low | Non-B-cell line with minimal CD19 expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.643G>A (p.Gly215Arg) | Missense | Rare | Impaired CD19 expression and B-cell signaling, associated with CVID3 |
| c.184C>T (p.Arg62Ter) | Nonsense | Rare | Truncated protein, loss of function, associated with CVID3 |
| c.1012C>T (p.Arg338Ter) | Nonsense | Rare | Truncated protein, loss of function, associated with CVID3 |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD19 impair B-cell receptor signaling, leading to immunodeficiency (CVID3).
Gain of Function (GOF)
No known gain-of-function mutations; CD19 is not typically oncogenic, but its overexpression on malignant B cells is exploited for therapy.
Dominant Negative (DN)
No dominant-negative effects reported; CD19 mutations are typically recessive.
View complete mutation data:
Gene Ontology (GO)
| • B cell receptor signaling pathway | • Antigen receptor-mediated signaling pathway |
| • Cell surface receptor signaling pathway | • Immune response |
| • Plasma membrane |
Pathways
• B cell receptor signaling pathway
• PI3K/AKT signaling in B cells
• CD19 signaling in B-cell development
Protein Summary
CD19 is a type I transmembrane glycoprotein of the immunoglobulin superfamily. It contains two extracellular immunoglobulin-like domains, a transmembrane region, and a cytoplasmic tail with multiple tyrosine residues that are phosphorylated upon BCR engagement. CD19 forms a complex with CD21, CD81, and CD225, and acts as a co-receptor that enhances BCR signaling by recruiting PI3K and other downstream effectors. It is essential for B-cell activation, proliferation, and antibody production. CD19 is a reliable pan-B-cell marker and is the target of several FDA-approved immunotherapies, including tisagenlecleucel (Kymriah) and blinatumomab (Blincyto).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD19 Overexpression K-562 Stable Cell Line | EDC01465 | Human | 930 | Details Get a Quote |
| CD19 Knockout HEK293 Cell Line | EDJ-KQ17680 | Human | 930 | Details Get a Quote |
| CD19 Knockout HeLa Cell Line | EDJ-KQ52823 | Human | 930 | Details Get a Quote |
| CD19 Knockout A-549 Cell Line | EDJ-KQ61293 | Human | 930 | Details Get a Quote |
| CD19 Knockout HCT 116 Cell Line | EDJ-KQ69789 | Human | 930 | Details Get a Quote |
| CD19 Knockout Raji Cell Line | EDJ-KQ78071 | Human | 930 | Details Get a Quote |
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