RELB Gene: v-rel Reticuloendotheliosis Viral Oncogene Homolog B
A key transcription factor in the NF-κB pathway, involved in immune regulation and cancer.
Gene Information Card
| Symbol | RELB |
|---|---|
| Full Name | v-rel reticuloendotheliosis viral oncogene homolog B |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 5971 ncbi.nlm.nih.gov/gene/5971 |
| Ensembl ID | ENSG00000104856 |
| UniProt ID | Q01201 |
| OMIM ID | 604758 |
| HGNC ID | 9956 |
| Aliases | I-REL, REL-B |
Description
RELB (v-rel reticuloendotheliosis viral oncogene homolog B) encodes a member of the Rel/NF-κB family of transcription factors. This protein forms heterodimers with p50 or p52 to regulate gene expression involved in immune responses, inflammation, cell survival, and differentiation. RELB is primarily activated through the non-canonical NF-κB pathway and plays a critical role in lymphoid organ development and adaptive immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | RELB overexpression or amplification drives NF-κB target gene expression, promoting tumor cell survival and proliferation. | NCBI, COSMIC |
| Hodgkin Lymphoma | Constitutive activation of the non-canonical NF-κB pathway via RELB alterations contributes to malignant transformation. | NCBI, OMIM |
| Breast Cancer | RELB upregulation is associated with poor prognosis and may promote metastasis through NF-κB-mediated transcription. | NCBI, COSMIC |
| Primary Immunodeficiency | Rare loss-of-function mutations in RELB impair NF-κB signaling, leading to combined immunodeficiency. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 4.1 | Low |
| Breast | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 8.7 | Medium expression |
| A549 (lung) | 5.1 | Low expression |
| MCF7 (breast) | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.1% | May alter DNA-binding affinity |
| c.1456G>A (p.Glu486Lys) | Missense | <0.1% | Potential impact on dimerization |
| Amplification | Copy number gain | Variable | Increased RELB expression in multiple cancers |
Mutation functional classification
Loss of Function (LOF)
Rare missense or nonsense mutations impair RELB function, leading to defective NF-κB signaling and immunodeficiency.
Gain of Function (GOF)
Gene amplification or overexpression enhances NF-κB activity, contributing to oncogenesis.
Dominant Negative (DN)
Some mutations may produce truncated proteins that interfere with wild-type RELB function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • protein heterodimerization activity (GO:0046982) |
| • regulation of inflammatory response (GO:0050727) | • positive regulation of NF-κB transcription factor activity (GO:0051092) |
| • nucleus (GO:0005634) |
Pathways
• Non-canonical NF-κB signaling (Reactome: R-HSA-5676590)
• NF-κB signaling pathway (KEGG: hsa04064)
Protein Summary
RELB is a 579-amino acid protein containing an N-terminal Rel homology domain (RHD) responsible for DNA binding and dimerization, and a C-terminal transactivation domain. It preferentially forms heterodimers with p52 (NFKB2) and regulates transcription of genes involved in immune function, inflammation, and cell survival. RELB is predominantly cytoplasmic in resting cells and translocates to the nucleus upon activation of the non-canonical NF-κB pathway.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RELB Knockout HEK293 Cell Line | EDJ-KQ589 | Human | 5971 | Details Get a Quote |
| RELB Knockout A-549 Cell Line | EDJ-KQ19011 | Human | 5971 | Details Get a Quote |
| RELB Knockout HCT 116 Cell Line | EDJ-KQ19012 | Human | 5971 | Details Get a Quote |
| RELB Knockout HeLa Cell Line | EDJ-KQ19013 | Human | 5971 | Details Get a Quote |
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