Retinoblastoma-like protein 2

Last updated

RBL2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases RBL2 , P130, Rb2, retinoblastoma-like 2, RB transcriptional corepressor like 2, BRUWAG
External IDs OMIM: 180203; MGI: 105085; HomoloGene: 4098; GeneCards: RBL2; OMA:RBL2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005611
NM_001323608
NM_001323609
NM_001323610
NM_001323611

Contents

NM_001282000
NM_001282001
NM_011250

RefSeq (protein)

NP_001310537
NP_001310538
NP_001310539
NP_001310540
NP_005602

NP_001268929
NP_001268930
NP_035380

Location (UCSC) Chr 16: 53.43 – 53.49 Mb Chr 8: 91.8 – 91.85 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Retinoblastoma-like protein 2 is a protein that in humans is encoded by the RBL2 gene. [5] [6] RBL2 is one of three retinoblastoma proteins encoded in the human genome (along with Rb and RBL1).

Interactions

Retinoblastoma-like protein 2 has been shown to interact with:

Human disease

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 siezures. [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]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000103479 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031666 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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. PMID   8361765.
  6. Baldi A, Boccia V, Claudio PP, De Luca A, Giordano A (May 1996). "Genomic structure of the human retinoblastoma-related Rb2/p130 gene". Proceedings of the National Academy of Sciences of the United States of America. 93 (10): 4629–32. Bibcode:1996PNAS...93.4629B. doi: 10.1073/pnas.93.10.4629 . PMC   39329 . PMID   8643454.
  7. Fan S, Yuan R, Ma YX, Xiong J, Meng Q, Erdos M, Zhao JN, Goldberg ID, Pestell RG, Rosen EM (Aug 2001). "Disruption of BRCA1 LXCXE motif alters BRCA1 functional activity and regulation of RB family but not RB protein binding". Oncogene. 20 (35): 4827–41. doi: 10.1038/sj.onc.1204666 . PMID   11521194.
  8. Sutcliffe JE, Cairns CA, McLees A, Allison SJ, Tosh K, White RJ (Jun 1999). "RNA polymerase III transcription factor IIIB is a target for repression by pocket proteins p107 and p130". Molecular and Cellular Biology. 19 (6): 4255–61. doi:10.1128/mcb.19.6.4255. PMC   104385 . PMID   10330166.
  9. Wang S, Ghosh RN, Chellappan SP (Dec 1998). "Raf-1 physically interacts with Rb and regulates its function: a link between mitogenic signaling and cell cycle regulation". Molecular and Cellular Biology. 18 (12): 7487–98. doi:10.1128/mcb.18.12.7487. PMC   109329 . PMID   9819434.
  10. 1 2 Shanahan F, Seghezzi W, Parry D, Mahony D, Lees E (Feb 1999). "Cyclin E associates with BAF155 and BRG1, components of the mammalian SWI-SNF complex, and alters the ability of BRG1 to induce growth arrest". Molecular and Cellular Biology. 19 (2): 1460–9. doi:10.1128/mcb.19.2.1460. PMC   116074 . PMID   9891079.
  11. Li Y, Graham C, Lacy S, Duncan AM, Whyte P (Dec 1993). "The adenovirus E1A-associated 130-kD protein is encoded by a member of the retinoblastoma gene family and physically interacts with cyclins A and E". Genes & Development. 7 (12A): 2366–77. doi: 10.1101/gad.7.12a.2366 . PMID   8253383.
  12. 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. PMID   9188854. S2CID   26359262.
  13. Ferreira R, Magnaghi-Jaulin L, Robin P, Harel-Bellan A, Trouche D (Sep 1998). "The three members of the pocket proteins family share the ability to repress E2F activity through recruitment of a histone deacetylase". Proceedings of the National Academy of Sciences of the United States of America. 95 (18): 10493–8. Bibcode:1998PNAS...9510493F. doi: 10.1073/pnas.95.18.10493 . PMC   27922 . PMID   9724731.
  14. 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. PMID   10969803.
  15. 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. PMID   10376528. S2CID   33828482.
  16. Meloni AR, Smith EJ, Nevins JR (Aug 1999). "A mechanism for Rb/p130-mediated transcription repression involving recruitment of the CtBP corepressor". Proceedings of the National Academy of Sciences of the United States of America. 96 (17): 9574–9. Bibcode:1999PNAS...96.9574M. doi: 10.1073/pnas.96.17.9574 . PMC   22250 . PMID   10449734.
  17. 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. PMID   9721205.
  18. 1 2 3 Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM (2024-12-18). "Clinical and genetic characterization of a progressive RBL2 -associated neurodevelopmental disorder". Brain. doi:10.1093/brain/awae363. ISSN   0006-8950.
  19. Brunet T, Radivojkov-Blagojevic M, Lichtner P, Kraus V, Meitinger T, Wagner M (March 2020). "Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder". Annals of Clinical and Translational Neurology. 7 (3): 390–396. doi:10.1002/acn3.50992. ISSN   2328-9503. PMC   7086002 . PMID   32105419.
  20. Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K (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. ISSN   1434-5161.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.