RBPJ Gene: Recombination Signal Binding Protein for Immunoglobulin Kappa J Region
Key transcriptional regulator in Notch signaling, implicated in development and cancer
Gene Information Card
| Symbol | RBPJ |
|---|---|
| Full Name | Recombination signal binding protein for immunoglobulin kappa J region |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.2 |
| NCBI Gene ID | 3516 ncbi.nlm.nih.gov/gene/3516 |
| Ensembl ID | ENSG00000168214 |
| UniProt ID | Q06330 |
| OMIM ID | 147183 |
| HGNC ID | 5724 |
| Aliases | CBF1, IGKJRB, RBP-J, RBP-JK, RBPJK, KBF2 |
Description
RBPJ encodes a transcriptional regulator that is the primary effector of the Notch signaling pathway. It binds to DNA sequence motifs and recruits co-repressors or co-activators depending on Notch activation. RBPJ is essential for embryonic development, cell fate determination, and immune system function. Mutations and dysregulation are linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alagille syndrome | Loss-of-function mutations in RBPJ impair Notch signaling, leading to multi-organ developmental defects. | ClinVar, OMIM |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | RBPJ mutations may disrupt Notch3 signaling, contributing to vascular pathology. | ClinVar, literature |
| T-cell acute lymphoblastic leukemia (T-ALL) | Aberrant Notch signaling via RBPJ promotes oncogenic transcription programs. | COSMIC, literature |
| Breast cancer | RBPJ overexpression or altered activity can drive tumor progression through Notch pathway. | COSMIC, literature |
| Hepatocellular carcinoma | RBPJ-mediated Notch signaling is implicated in tumor growth and metastasis. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Liver | 7.8 | Medium |
| Kidney | 9.1 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.4 | High expression; Notch pathway active |
| HeLa (cervical cancer) | 11.2 | Moderate expression |
| A549 (lung cancer) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 13.1 | High expression; associated with Notch signaling |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.507+1G>A | Splice donor | Rare | Loss of function; associated with Alagille syndrome |
| p.Arg218His | Missense | Rare | Altered DNA binding; potential dominant-negative effect |
| p.Leu278Pro | Missense | Rare | Impaired protein stability; loss of function |
| c.1240C>T | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most RBPJ mutations are loss-of-function, reducing DNA binding or transcriptional activity, leading to haploinsufficiency or dominant-negative effects.
Gain of Function (GOF)
Gain-of-function mutations are rare but may enhance Notch signaling, contributing to oncogenesis.
Dominant Negative (DN)
Some missense mutations can produce proteins that interfere with wild-type RBPJ function, acting as dominant-negative.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • Transcription factor activity |
| • RNA polymerase II transcription regulatory region sequence-specific DNA binding | • Notch binding |
| • Chromatin binding | • Regulation of transcription by RNA polymerase II |
Pathways
• Notch signaling pathway
• Signaling by Notch
• Developmental biology
• Gene expression (Transcription)
Protein Summary
RBPJ is a 500-amino acid protein that functions as a sequence-specific DNA-binding protein. It recognizes the consensus sequence GTGGGAA and recruits co-repressor complexes (e.g., SMRT, NCOR) in the absence of Notch signaling, and co-activators (e.g., MAML) upon Notch activation. It plays a central role in cell fate decisions, proliferation, and apoptosis. The protein contains a conserved N-terminal DNA-binding domain and a C-terminal domain that interacts with Notch intracellular domain (NICD).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBPJ Knockout HEK293 Cell Line | EDJ-KQ444 | Human | 3516 | Details Get a Quote |
| RBPJL Knockout HEK293 Cell Line | EDJ-KQ445 | Human | 11317 | Details Get a Quote |
| RBPJ Knockout A-549 Cell Line | EDJ-KQ18747 | Human | 3516 | Details Get a Quote |
| RBPJ Knockout HCT 116 Cell Line | EDJ-KQ18748 | Human | 3516 | Details Get a Quote |
| RBPJ Knockout HeLa Cell Line | EDJ-KQ18749 | Human | 3516 | Details Get a Quote |
| RBPJL Knockout HeLa Cell Line | EDJ-KQ55628 | Human | 11317 | Details Get a Quote |
| RBPJL Knockout A-549 Cell Line | EDJ-KQ64127 | Human | 11317 | Details Get a Quote |
| RBPJL Knockout HCT 116 Cell Line | EDJ-KQ72572 | Human | 11317 | Details Get a Quote |
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