Retinoblastoma-like protein 2 is aprotein that in humans is encoded by theRBL2gene.[5][6] RBL2 is one of three retinoblastoma proteins encoded in the human genome (along withRb andRBL1).
Mutations in RBL2 have been linked to a severe neurodevelopmental disorder characterised by morphological and behavioural abnormalities. Symptoms include intellectual disability, developmental delay, microcephaly, dysmorphic features, gait abnormalities, and seizures.[18][19][20]
The genetic basis of RBL2-linked disease is caused by bi-allelic loss-of-function mutations (including nonsense mutations, frameshifts, splicing mutations, and deletions.[18]
RBL2-linked disease is a rare genetic disorder with only 35 patients identified worldwide (2025).[18]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Mayol X, Graña X, Baldi A, Sang N, Hu Q, Giordano A (Sep 1993). "Cloning of a new member of the retinoblastoma gene family (pRb2) which binds to the E1A transforming domain".Oncogene.8 (9):2561–6.PMID8361765.
^Lacy S, Whyte P (May 1997). "Identification of a p130 domain mediating interactions with cyclin A/cdk 2 and cyclin E/cdk 2 complexes".Oncogene.14 (20):2395–406.doi:10.1038/sj.onc.1201085.PMID9188854.S2CID26359262.
^Bouzahzah B, Fu M, Iavarone A, Factor VM, Thorgeirsson SS, Pestell RG (Aug 2000). "Transforming growth factor-beta1 recruits histone deacetylase 1 to a p130 repressor complex in transgenic mice in vivo".Cancer Research.60 (16):4531–7.PMID10969803.
^Wang S, Nath N, Adlam M, Chellappan S (Jun 1999). "Prohibitin, a potential tumor suppressor, interacts with RB and regulates E2F function".Oncogene.18 (23):3501–10.doi:10.1038/sj.onc.1202684.PMID10376528.S2CID33828482.
^Fusco C, Reymond A, Zervos AS (Aug 1998). "Molecular cloning and characterization of a novel retinoblastoma-binding protein".Genomics.51 (3):351–8.doi:10.1006/geno.1998.5368.PMID9721205.
^Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, et al. (November 2021). "RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function".Journal of Human Genetics.66 (11):1101–1112.doi:10.1038/s10038-021-00931-z.PMID33980986.
Soprano KJ, Purev E, Vuocolo S, Soprano DR (Aug 2006). "Rb2/p130 and protein phosphatase 2A: key mediators of ovarian carcinoma cell growth suppression by all-trans retinoic acid".Oncogene.25 (38):5315–25.doi:10.1038/sj.onc.1209679.PMID16936753.S2CID19893445.
Yeung RS, Bell DW, Testa JR, Mayol X, Baldi A, Graña X, et al. (Dec 1993). "The retinoblastoma-related gene, RB2, maps to human chromosome 16q12 and rat chromosome 19".Oncogene.8 (12):3465–8.PMID8247552.
Lacy S, Whyte P (May 1997). "Identification of a p130 domain mediating interactions with cyclin A/cdk 2 and cyclin E/cdk 2 complexes".Oncogene.14 (20):2395–406.doi:10.1038/sj.onc.1201085.PMID9188854.S2CID26359262.
Woitach JT, Zhang M, Niu CH, Thorgeirsson SS (Aug 1998). "A retinoblastoma-binding protein that affects cell-cycle control and confers transforming ability".Nature Genetics.19 (4):371–4.doi:10.1038/1258.PMID9697699.S2CID11374970.
Fusco C, Reymond A, Zervos AS (Aug 1998). "Molecular cloning and characterization of a novel retinoblastoma-binding protein".Genomics.51 (3):351–8.doi:10.1006/geno.1998.5368.PMID9721205.
