VPREB3
Pre-B lymphocyte gene 3 (VpreB3) – a component of the pre-B cell receptor complex involved in B-cell development.
Gene Information Card
| Symbol | VPREB3 |
|---|---|
| Full Name | Pre-B lymphocyte gene 3 (VpreB3) |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.22 |
| NCBI Gene ID | 10765 ncbi.nlm.nih.gov/gene/10765 |
| Ensembl ID | ENSG00000128274 |
| UniProt ID | O75829 |
| OMIM ID | 605017 |
| HGNC ID | 12710 |
| Aliases | VpreB3, pre-B lymphocyte 3 |
Description
VPREB3 encodes a protein that is part of the pre-B cell receptor complex, essential for early B-cell development. It is expressed specifically in B-cell progenitors and plays a role in the transition from pro-B to pre-B cells. The protein associates with the immunoglobulin mu heavy chain and surrogate light chain components (VpreB1, VpreB2, and lambda5) to form the pre-BCR, which signals for proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell acute lymphoblastic leukemia (B-ALL) | Altered VPREB3 expression may disrupt pre-BCR signaling, contributing to leukemogenesis. | ClinVar, COSMIC |
| Immunodeficiency with B-cell defects | Loss of VPREB3 function impairs pre-BCR formation, leading to reduced B-cell production. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 6.1 | Low |
| Thymus | 4.2 | Low |
| Peripheral blood | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NALM6 (B-ALL) | 15.2 | High expression |
| REH (B-ALL) | 11.8 | Moderate expression |
| Raji (Burkitt lymphoma) | 9.5 | Moderate expression |
| Jurkat (T-cell leukemia) | 0.5 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | <0.1% | Loss of function; truncated protein |
| c.287G>A (p.Gly96Asp) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg42*) lead to premature termination and loss of pre-BCR assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • external side of plasma membrane (GO:0009897) |
| • antigen binding (GO:0003823) | • adaptive immune response (GO:0002250) |
| • B cell receptor signaling pathway (GO:0042100) |
Pathways
• Pre-B cell receptor signaling (Reactome: R-HSA-983705)
• B cell receptor signaling (Reactome: R-HSA-983695)
Protein Summary
VPREB3 is a 145-amino-acid protein (UniProt O75829) that belongs to the immunoglobulin superfamily. It is a component of the pre-B cell receptor complex, localized to the plasma membrane. The protein contains a single Ig-like V-type domain and is essential for proper B-cell maturation. It is expressed predominantly in early B-cell stages and is downregulated in mature B cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPREB3 Knockout HEK293 Cell Line | EDJ-KQ8293 | Human | 29802 | Details Get a Quote |
| VPREB3 Knockout HeLa Cell Line | EDJ-KQ56110 | Human | 29802 | Details Get a Quote |
| VPREB3 Knockout A-549 Cell Line | EDJ-KQ64598 | Human | 29802 | Details Get a Quote |
| VPREB3 Knockout HCT 116 Cell Line | EDJ-KQ73049 | Human | 29802 | Details Get a Quote |
