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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RBL2
RB transcriptional corepressor like 2
Chromosome 16 Β· 16q12.2
NCBI Gene: 5934Ensembl: ENSG00000103479.18HGNC: HGNC:9894UniProt: Q08999
194PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleolusprotein bindingpromoter-specific chromatin bindingregulation of lipid kinase activityBrunet-Wagner neurodevelopmental syndromeintelligenceneurodegenerative diseasediabetes mellitus
✦AI Summary

RBL2 (RB transcriptional corepressor like 2) is a pocket protein family member that functions as a key regulator of cell cycle entry and chr16 structure. RBL2 maintains heterochromatin by recruiting histone methyltransferases KMT5B and KMT5C to control histone H4 'Lys-20' trimethylation, thereby mediating epigenetic transcriptional repression 1. It acts as a potent inhibitor of E2F-mediated transactivation, preferentially associating with E2F5 and E4 to repress cell cycle-dependent genes during G0/G1 phases 12. The RBL2-E2F axis also regulates cancer stem cell formation through paracrine WNT signaling mechanisms 2. RBL2 exhibits tumor suppressor activity, with recurrent alterations identified in leiomyosarcoma and Burkitt lymphoma 34. Notably, biallelic loss-of-function RBL2 variants cause Brunet-Wagner neurodevelopmental syndrome, characterized by global developmental delay, intellectual disability, microcephaly, seizures, and white matter abnormalities 5. RBL2 is essential for foregut endoderm differentiation and post-mitotic neuronal function beyond its cell cycle regulatory role 65. Additionally, RBL2 functions as an endogenous CDK2 inhibitor in cardiac tissue, where loss of RBL2 increases sensitivity to anthracycline-induced cardiotoxicity via FOXO1-mediated proapoptotic signaling 7.

Sources cited
1
RBL2/p130 forms the DREAM complex that represses E2F target genes during G0/G1 phases through evolutionarily conserved mechanisms
PMID: 17531812
2
RBL2-E2F1/4 axis regulates cancer stem cell formation and WNT ligand expression through paracrine signaling
PMID: 38678032
3
RBL2 alterations identified as recurrent in leiomyosarcoma tumors with telomere maintenance alterations
PMID: 29321523
4
RBL2/p130 mutations in Burkitt lymphoma impair growth control and modulate expression of genes important for cell viability
PMID: 17485552
5
Biallelic RBL2 loss-of-function variants cause neurodevelopmental disorder with developmental delay, intellectual disability, and neuroimaging abnormalities; RBL2 required for post-mitotic neuronal locomotor function
PMID: 39692517
6
RBL2 proteins are essential for foregut endoderm differentiation but dispensable for early germ layer formation and pluripotency
PMID: 36413521
7
RBL2 functions as endogenous CDK2 inhibitor in heart; loss of RBL2 increases anthracycline cardiotoxicity via FOXO1-mediated proapoptotic signaling
PMID: 37397090
Disease Associationsβ“˜21
Brunet-Wagner neurodevelopmental syndromeOpen Targets
0.67Moderate
intelligenceOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
diabetes mellitusOpen Targets
0.40Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
cervical carcinomaOpen Targets
0.28Weak
nephritisOpen Targets
0.28Weak
NephropathyOpen Targets
0.28Weak
HeadacheOpen Targets
0.28Weak
health study participationOpen Targets
0.27Weak
ocular hypotensionOpen Targets
0.26Weak
HematemesisOpen Targets
0.25Weak
attention deficit hyperactivity disorderOpen Targets
0.21Weak
rheumatic diseaseOpen Targets
0.21Weak
autism spectrum disorderOpen Targets
0.20Weak
mathematical abilityOpen Targets
0.17Weak
tooth diseaseOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Brunet-Wagner neurodevelopmental syndromeUniProt
Pathogenic Variants9
NM_005611.4(RBL2):c.1472_1473del (p.His491fs)Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 491
NM_005611.4(RBL2):c.574C>T (p.Arg192Ter)Pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 192
NM_005611.4(RBL2):c.2284_2285insGACG (p.Val762fs)Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 762
NM_005611.4(RBL2):c.3139C>T (p.Arg1047Ter)Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 1047
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter)Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 186
NM_005611.4(RBL2):c.1596_1597del (p.Leu533fs)Pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 533
NM_005611.4(RBL2):c.901dup (p.Tyr301fs)Likely pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜…β˜†β˜†β˜†β†’ Residue 301
NM_005611.4(RBL2):c.926dup (p.Leu310fs)Pathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 310
NM_005611.4(RBL2):c.573-1358_766+5delPathogenic
Brunet-Wagner neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
LIN54Protein interaction100%LIN52Protein interaction100%LIN9Protein interaction100%LIN37Protein interaction100%CDKN1BProtein interaction100%RBBP4Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
98%
Ovary
94%
Liver
91%
Bone Marrow
72%
Brain
72%
Gene Interaction Network
Click a node to explore
RBL2LIN54LIN52LIN9LIN37CDKN1BRBBP4
PROTEIN STRUCTURE
Preparing viewer…
PDB5C1D Β· 2.05 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.60LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.47 [0.37–0.60]
RankingsWhere RBL2 stands among ~20K protein-coding genes
  • #2,206of 20,598
    Most Researched194 Β· top quartile
  • #2,920of 5,498
    Most Pathogenic Variants9
  • #4,135of 17,882
    Most Constrained (LOEUF)0.60 Β· top quartile
Genes detectedRBL2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
PMID: 29321523
Nat Commun Β· 2018
1.00
2
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
PMID: 39692517
Brain Β· 2025
0.90
3
The pRb/RBL2-E2F1/4-GCN5 axis regulates cancer stem cell formation and G0 phase entry/exit by paracrine mechanisms.
PMID: 38678032
Nat Commun Β· 2024
0.80
4
Phospholipase PLCE1 Promotes Transcription and Phosphorylation of MCM7 to Drive Tumor Progression in Esophageal Cancer.
PMID: 38117512
Cancer Res Β· 2024
0.76
5
Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
PMID: 36413521
PLoS One Β· 2022
0.70