Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.[5]
Function
This locus encodes an ankyrin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome[6][7][8] and Cornelia de Lange syndrome.[9][10] Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000167522 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035569 – Ensembl, May 2017
- ^ "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.
- ^ "Entrez Gene: Ankyrin repeat domain 11". Retrieved 2018-04-12.
- ^ Wang, Yunqian; Peng, Xin; Zhu, Jing; Zou, Ning; Yu, Xiaotong; Yang, Liu (28 October 2025). "KBG syndrome complicated with chylothorax in a newborn: a case report and literature review". Frontiers in Pediatrics. 13 1690056. doi:10.3389/fped.2025.1690056. PMC 12602497. PMID 41230445.
- ^ Gao, Jie; Wang, Ruiqin; Pan, Zhen; Hu, Ruolan; Jiang, Mingyan; Li, Jinrong (June 2025). "A novel heterozygous mutation of ANKRD11 causes KBG syndrome in a preterm neonate: a case report and literature review". Frontiers in Pediatrics. 13 1565261. doi:10.3389/fped.2025.1565261. PMC 12198213. PMID 40574944.
- ^ Iwata-Otsubo, Aiko; Rippert, Alyssa L; Baciuniene, Jorune; Fiordaliso, Sarah K; Chen, Robert; et al. (24 January 2024). "16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome". Genes. 16 (2): 136. doi:10.3390/genes16020136. PMC 11855469. PMID 40004465.
- ^ Çetinkaya, Dugyu; Altan, Mustafa; Ceylan, Ahmed Cevdet; Kılıç, Esra (October 2025). "Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant". Molecular Syndromology. 16 (5): 429–35. doi:10.1159/000543396. PMC 12603909. PMID 41230206.
- ^ Liu, Haiyang; Li, Hao; Cai, Qixu; Zhang, Jie; Zhong, Hongxin; et al. (28 January 2025). "ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome". Proceedings of the National Academy of Sciences. 122 (4) e2417346122. Bibcode:2025PNAS..12217346L. doi:10.1073/pnas.2417346122. PMC 11789155. PMID 39847329.
Further reading
- Zhang A, Li CW, Chen JD (July 2007). "Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1". Biochem. Biophys. Res. Commun. 358 (4): 1034–40. Bibcode:2007BBRC..358.1034Z. doi:10.1016/j.bbrc.2007.05.017. PMC 1950474. PMID 17521611.
- Neilsen PM, Cheney KM, Li CW, Chen JD, Cawrse JE, Schulz RB, Powell JA, Kumar R, Callen DF (November 2008). "Identification of ANKRD11 as a p53 coactivator". J. Cell Sci. 121 (Pt 21): 3541–52. doi:10.1242/jcs.026351. PMID 18840648.
- Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T (April 2010). "Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome". Eur. J. Hum. Genet. 18 (4): 429–35. doi:10.1038/ejhg.2009.192. PMC 2987261. PMID 19920853.
- Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M (August 2011). "Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia". Am. J. Hum. Genet. 89 (2): 289–94. doi:10.1016/j.ajhg.2011.06.007. PMC 3155157. PMID 21782149.
- Lim SP, Wong NC, Suetani RJ, Ho K, Ng JL, Neilsen PM, Gill PG, Kumar R, Callen DF (November 2012). "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer". Eur. J. Cancer. 48 (17): 3300–9. doi:10.1016/j.ejca.2012.03.023. PMID 22538187.
- Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P (January 2013). "Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations". Am. J. Med. Genet. B Neuropsychiatr. Genet. 162B (1): 17–23. doi:10.1002/ajmg.b.32113. PMID 23184435. S2CID 31299809.
- Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J (April 2013). "Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome". Am. J. Med. Genet. A. 161A (4): 835–40. doi:10.1002/ajmg.a.35739. PMID 23494856. S2CID 25326354.
- Garee JP, Chien CD, Li JV, Wellstein A, Riegel AT (June 2014). "Regulation of HER2 oncogene transcription by a multifunctional coactivator/corepressor complex". Mol. Endocrinol. 28 (6): 846–59. doi:10.1210/me.2013-1379. PMC 4042073. PMID 24678732.
- Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (February 2015). "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome". Hum. Genet. 134 (2): 181–90. doi:10.1007/s00439-014-1509-2. hdl:1874/332012. PMID 25413698. S2CID 2607611.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.