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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RBBP8
RB binding protein 8, endonuclease
Chromosome 18 Β· 18q11.2
NCBI Gene: 5932Ensembl: ENSG00000101773.20HGNC: HGNC:9891UniProt: Q99708
224PubMed Papers
22Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA strand resection involved in replication fork processingsite of double-strand breaktranscription corepressor activityprotein bindingJawad syndromeSeckel syndrome 2cancergenetic disorder
✦AI Summary

RBBP8 (also known as CtIP) is a critical endonuclease that functions as a key regulator of DNA double-strand break (DSB) repair through homologous recombination (HR). The protein cooperates with the MRE11-RAD50-NBN (MRN) complex to initiate DNA end resection, the first step in HR repair pathway 1. RBBP8 acts as a determinant of DSB repair pathway choice by promoting HR while preventing classical non-homologous end-joining 1. Mechanistically, RBBP8 forms the functionally integrated BRCA1-C complex with MRE11-RAD50-NBS1 and phosphorylated CtIP, which synergistically stimulates long-range DNA end resection by EXO1 or DNA2 nucleases 1. The protein also processes single-stranded DNA gaps through MRN-CtIP exonuclease activity, particularly relevant in PARP inhibitor-treated cells 2. Beyond DNA repair, RBBP8 regulates cell cycle progression by suppressing P21 expression through interaction with BRCA1 and CtBP, facilitating G1/S transition 3. Clinically, RBBP8 mutations are associated with hereditary cancer syndromes, including a novel germline mutation (p.E281*) linked to familial cancer predisposition 4. High RBBP8 expression correlates with poor prognosis in plasma cell myeloma, indicating its potential as a prognostic biomarker 5.

Sources cited
1
RBBP8 directly promotes DNA end resection and forms BRCA1-C complex for homologous recombination
PMID: 39261728
2
RBBP8 processes single-stranded DNA gaps through MRN-CtIP exonuclease activity in PARP inhibitor-treated cells
PMID: 40127955
3
RBBP8 suppresses P21 expression by interacting with CtBP and BRCA1, promoting G1/S cell cycle transition
PMID: 31636387
4
Novel RBBP8 germline mutation (p.E281*) is associated with familial hereditary cancer syndrome
PMID: 37615686
5
High RBBP8 expression correlates with poor survival and increased relapse risk in plasma cell myeloma
PMID: 30622325
Disease Associationsβ“˜22
Jawad syndromeOpen Targets
0.76Strong
Seckel syndrome 2Open Targets
0.72Strong
cancerOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.47Moderate
familial pancreatic carcinomaOpen Targets
0.45Moderate
Seckel syndromeOpen Targets
0.40Moderate
basal cell carcinomaOpen Targets
0.40Weak
Inguinal herniaOpen Targets
0.38Weak
Primary microcephalyOpen Targets
0.37Weak
autosomal recessive primary microcephalyOpen Targets
0.37Weak
microcephaly with intellectual disabilityOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
pancreatic neoplasmOpen Targets
0.33Weak
pancreatic carcinomaOpen Targets
0.33Weak
trauma complicationOpen Targets
0.32Weak
medical procedureOpen Targets
0.30Weak
skin cancerOpen Targets
0.30Weak
complicationOpen Targets
0.30Weak
lower respiratory tract diseaseOpen Targets
0.29Weak
non-melanoma skin carcinomaOpen Targets
0.29Weak
Jawad syndromeUniProt
Seckel syndrome 2UniProt
Pathogenic Variants11
NM_002894.3(RBBP8):c.1072del (p.His358fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2021β†’ Residue 358
NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)Likely pathogenic
not provided|Seckel syndrome 2
β˜…β˜…β˜†β˜†2020β†’ Residue 47
NM_002894.3(RBBP8):c.1621_1625dup (p.Asn542fs)Likely pathogenic
RBBP8-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 542
NM_002894.3(RBBP8):c.2474C>T (p.Ala825Val)Likely pathogenic
RBBP8-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 825
NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 681
NM_002894.3(RBBP8):c.2287+1G>ALikely pathogenic
Jawad syndrome
β˜…β˜†β˜†β˜†2022
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)Likely pathogenic
Jawad syndrome;Seckel syndrome 2
β˜…β˜†β˜†β˜†2021β†’ Residue 683
NM_002894.3(RBBP8):c.367G>T (p.Glu123Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 123
NM_002894.3(RBBP8):c.317_318del (p.Glu105_Phe106insTer)Pathogenic
Jawad syndrome
β˜…β˜†β˜†β˜†2018β†’ Residue 105
NM_002894.3(RBBP8):c.1808_1809del (p.Ile603fs)Pathogenic
Jawad syndrome
β˜†β˜†β˜†β˜†2011β†’ Residue 603
NM_002894.3(RBBP8):c.2287+53T>GPathogenic
Seckel syndrome 2
β˜†β˜†β˜†β˜†2001
View on ClinVar β†—
Related Genes
H2AXProtein interaction100%RPA2Protein interaction100%ATRIPProtein interaction100%WRNProtein interaction100%UIMC1Protein interaction100%ABRAXAS1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Lung
29%
Liver
23%
Heart
22%
Ovary
15%
Gene Interaction Network
Click a node to explore
RBBP8H2AXRPA2ATRIPWRNUIMC1ABRAXAS1
PROTEIN STRUCTURE
Preparing viewer…
PDB4D2H Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.67–0.98]
RankingsWhere RBBP8 stands among ~20K protein-coding genes
  • #1,819of 20,598
    Most Researched224 Β· top 10%
  • #2,733of 5,498
    Most Pathogenic Variants11
  • #9,356of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedRBBP8
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
PMID: 30306255
J Cancer Res Clin Oncol Β· 2018
1.00
2
Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.
PMID: 39261728
Nature Β· 2024
0.90
3
Two-ended recombination at a Flp-nickase-broken replication fork.
PMID: 39631396
Mol Cell Β· 2025
0.84
4
The Fanconi anemia core complex promotes CtIP-dependent end resection to drive homologous recombination at DNA double-strand breaks.
PMID: 39152113
Nat Commun Β· 2024
0.80
5
Phase separation of ERCC6L2-CtIP regulates the extent of DNA end resection.
PMID: 40913148
Nat Cell Biol Β· 2025
0.70