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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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VPREB1
V-set pre-B cell surrogate light chain 1
Chromosome 22 · 22q11.22
NCBI Gene: 7441Ensembl: ENSG00000169575.5HGNC: HGNC:12709UniProt: P12018
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
immune responseimmunoglobulin complexextracellular regionendoplasmic reticulumneurodegenerative diseaseAlzheimer diseasejaw diseaseinfection
✦AI Summary

VPREB1 encodes a component of the surrogate light chain that associates with the immunoglobulin heavy chain to form the pre-B cell receptor (pre-BCR) complex, which is essential for early B cell development 1. The gene exhibits developmental stage-specific expression, with low levels in pro-B cells, high levels in pre-BI cells, and slightly lower levels in pre-BII cells, before being downregulated in immature/mature B cells 1. The pre-BCR complex serves as a critical checkpoint during bone marrow B cell development, and failure of pre-BCR signaling is proposed as a critical factor for B-cell acute lymphoblastic leukemia (B-ALL) development 2. VPREB1 mutations and deletions have been identified in various B cell malignancies, including B-ALL and multiple myeloma, where CRISPR-mediated knockout of VPREB1 demonstrated cytotoxic effects on myeloma cell proliferation 3. Copy number variations in VPREB1 show significant disease associations: fewer than 2 copies are associated with increased rheumatoid arthritis risk, while more than 2 copies appear protective 45. Additionally, VPREB1 deletion has been identified as a predictor of relapse in Philadelphia chr22-positive ALL patients treated with targeted therapy 6. Mutations in VPREB1 can also cause autosomal recessive agammaglobulinemia, characterized by absent peripheral B cells and severe hypogammaglobulinemia 7.

Sources cited
1
VPREB1 forms pre-BCR complex and shows developmental stage-specific expression pattern in B cells
PMID: 12672078
2
Pre-BCR signaling failure is critical for B-ALL development and VPREB1 mutations found in B-ALL patients
PMID: 35398858
3
CRISPR-mediated VPREB1 knockout shows cytotoxic effects on myeloma cell proliferation
PMID: 33418558
4
VPREB1 copy number <2 associated with increased RA risk, >2 copies protective
PMID: 21144590
5
VPREB1 copy number variations associated with rheumatoid arthritis susceptibility
PMID: 33101545
6
VPREB1 deletion identified as predictor of relapse in Ph+ ALL patients
PMID: 40369607
7
VPREB1 mutations cause autosomal recessive agammaglobulinemia with absent B cells
PMID: 31696364
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
Alzheimer diseaseOpen Targets
0.12Weak
jaw diseaseOpen Targets
0.11Weak
infectionOpen Targets
0.11Weak
acute lymphoblastic leukemiaOpen Targets
0.09Suggestive
multiple myelomaOpen Targets
0.08Suggestive
gingivitisOpen Targets
0.07Suggestive
adrenal gland hyperfunctionOpen Targets
0.06Suggestive
Okt4 epitope deficiencyOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
Helicobacter pylori infectious diseaseOpen Targets
0.06Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.06Suggestive
leukemiaOpen Targets
0.06Suggestive
allergic rhinitisOpen Targets
0.06Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.05Suggestive
periodontitisOpen Targets
0.05Suggestive
blood coagulation diseaseOpen Targets
0.05Suggestive
clostridium difficile infectionOpen Targets
0.05Suggestive
hyperaldosteronismOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FCGRTShared pathway100%PRG2Shared pathway100%RFX1Shared pathway100%SP2Shared pathway100%CLEC17AShared pathway100%CLEC4FShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Brain
0%
Heart
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
VPREB1FCGRTPRG2RFX1SP2CLEC17ACLEC4F
PROTEIN STRUCTURE
Preparing viewer…
PDB3BJ9 · 2.00 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.33 [0.90–1.85]
RankingsWhere VPREB1 stands among ~20K protein-coding genes
  • #12,917of 20,598
    Most Researched26
  • #16,890of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedVPREB1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association of
PMID: 33101545
Dis Markers · 2020
1.00
2
Molecular characterization and predictors of relapse in patients with Ph + ALL after frontline ponatinib and blinatumomab.
PMID: 40369607
J Hematol Oncol · 2025
0.90
3
Complex karyotype with cryptic
PMID: 32218851
Oncol Lett · 2020
0.80
4
Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia.
PMID: 35398858
J Pediatr Hematol Oncol · 2022
0.70
5
CRISPR/Cas9 mediated knock-out of VPREB1 gene induces a cytotoxic effect in myeloma cells.
PMID: 33418558
PLoS One · 2021
0.60