Gene
RBPJ
recombination signal binding protein for immunoglobulin kappa J region
- HGNC 5724↗(opens in a new tab)
- Ensembl gene ENSG00000168214↗(opens in a new tab)
- NCBI Gene 3516↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p15.2
- Coordinates
- Chromosome 4: 26,321,014–26,434,923 (GRCh38)
- Exons
- 11 exons across 113.9 kb
- Protein
- 487 amino acids
- Also known as
- SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1
- Previous symbols
- IGKJRB1, RBPSUH
- MANE Select transcript
- ENST00000355476.8NM_015874.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How RBPJ is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 113.9 kb; 1,464 of those bases code for the protein.
How a genome test reads RBPJ
4
positions in RBPJ where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (25%) falls in a region short reads find hard.
- Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 113.9 kb of RBPJ, introns included, not only the 5.4 kb of exons.
Traits linked to RBPJ
The Human Phenotype Ontology lists these as features of the rare conditions RBPJ can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Intellectual disability, mild
- Too much cerebrospinal fluid in the brain
- Cavity within brain
- Delayed motor skills
- EEG abnormality
- Epilepsy
- Intellectual disability
- Periventricular leukomalacia
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RBPJ gene: recombination signal binding protein for immunoglobulin kappa J region. Retrieved 16 October 2026, from https://dantelabs.com/genes/rbpj
Dante Labs. RBPJ gene: recombination signal binding protein for immunoglobulin kappa J region [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rbpj
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