Gene
RBBP8
RB binding protein 8, endonuclease
- HGNC 9891↗(opens in a new tab)
- Ensembl gene ENSG00000101773↗(opens in a new tab)
- NCBI Gene 5932↗(opens in a new tab)
Summary
- Cytogenetic location
- 18q11.2
- Coordinates
- Chromosome 18: 22,933,328–23,026,486 (GRCh38)
- Exons
- 19 exons across 93.2 kb
- Protein
- 897 amino acids
- Also known as
- CtIP, RIM, COM1
- Previous symbols
- SCKL2
- MANE Select transcript
- ENST00000327155.10NM_002894.3
- 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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No Genome Test report reads RBBP8 yet. The test sequences your whole genome, so your data includes it all the same.
How RBBP8 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 3.3 kb of the gene's 93.2 kb; 2,694 of those bases code for the protein.
How a genome test reads RBBP8
8
positions in RBBP8 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 93.2 kb of RBBP8, introns included, not only the 3.3 kb of exons.
Traits linked to RBBP8
The Human Phenotype Ontology lists these as features of the rare conditions RBBP8 can cause. Each trait's page lists the other genes linked to it.
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.). RBBP8 gene: RB binding protein 8, endonuclease. Retrieved 17 October 2026, from https://dantelabs.com/genes/rbbp8
Dante Labs. RBBP8 gene: RB binding protein 8, endonuclease [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rbbp8
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