Ankyrin repeat domain 11

ANKRD11
Identifiers
Aliases	ANKRD11, ANCO-1, ANCO1, LZ16, T13, ankyrin repeat domain 11, ankyrin repeat domain containing 11
External IDs	OMIM: 611192; MGI: 1924337; GeneCards: ANKRD11
Gene location (Human)
Chr.	Chromosome 16 (human)
End	89,490,561 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	123,769,016 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; sural nerve; ; stromal cell of endometrium; ; anterior pituitary; ; epithelium of colon; ; left ovary; ; right ovary; ; skin of abdomen; ; upper lobe of left lung; ; right lung;
	Top expressed in
	Rostral migratory stream; ; aortic valve; ; tail of embryo; ; ascending aorta; ; supraoptic nucleus; ; genital tubercle; ; hand; ; lumbar subsegment of spinal cord; ; ciliary body; ; granulocyte;
	More reference expression data
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	29123
	77087
	ENSG00000167522
	ENSMUSG00000035569
	Q6UB99
	E9Q4F7
	NM_001256182; NM_001256183; NM_013275
	NM_001081379
	NP_001243111; NP_001243112; NP_037407
	NP_001074848
	Wikidata
View/Edit Human	View/Edit Mouse

Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.

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 and Cornelia de Lange syndrome. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000167522 – Ensembl, May 2017
1 2 3 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 Y, Peng X, Zhu J, Zou N, Yu X, Yang L (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 J, Wang R, Pan Z, Hu R, Jiang M, Li J (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 A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, et al. (January 2025). "16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome". Genes. 16 (2). Basel: 136. doi:10.3390/genes16020136. PMC 11855469. PMID 40004465.
↑ Çetinkaya D, Altan M, Ceylan AC, Kılıç E (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): 429–435. doi:10.1159/000543396. PMC 12603909. PMID 41230206.
↑ Liu H, Li H, Cai Q, Zhang J, Zhong H, Hu G, et al. (January 2025). "ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome". Proceedings of the National Academy of Sciences of the United States of America. 122 (4) e2417346122. Bibcode:2025PNAS..12217346L. doi:10.1073/pnas.2417346122. PMC 11789155. PMID 39847329.

Zhang A, Li CW, Chen JD (July 2007). "Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1". Biochemical and Biophysical Research Communications. 358 (4): 1034–1040. 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, et al. (November 2008). "Identification of ANKRD11 as a p53 coactivator". Journal of Cell Science. 121 (Pt 21): 3541–3552. doi:10.1242/jcs.026351. PMID 18840648.
Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, et al. (April 2010). "Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome". European Journal of Human Genetics. 18 (4): 429–435. doi:10.1038/ejhg.2009.192. PMC 2987261. PMID 19920853.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, et al. (August 2011). "Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia". American Journal of Human Genetics. 89 (2): 289–294. doi:10.1016/j.ajhg.2011.06.007. PMC 3155157. PMID 21782149.
Lim SP, Wong NC, Suetani RJ, Ho K, Ng JL, Neilsen PM, et al. (November 2012). "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer". European Journal of Cancer. 48 (17). Oxford: 3300–3309. doi:10.1016/j.ejca.2012.03.023. PMID 22538187.
Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, et al. (January 2013). "Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 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, et al. (April 2013). "Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome". American Journal of Medical Genetics. Part a. 161A (4): 835–840. 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". Molecular Endocrinology. 28 (6). Baltimore, Md.: 846–859. doi:10.1210/me.2013-1379. PMC 4042073. PMID 24678732.
Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, et al. (February 2015). "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome". Human Genetics. 134 (2): 181–190. 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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000167522 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035569 – 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.

[entrez-5] "Entrez Gene: Ankyrin repeat domain 11". Retrieved 2018-04-12.

[6] Wang Y, Peng X, Zhu J, Zou N, Yu X, Yang L (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.

[7] Gao J, Wang R, Pan Z, Hu R, Jiang M, Li J (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.

[8] Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, et al. (January 2025). "16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome". Genes. 16 (2). Basel: 136. doi:10.3390/genes16020136. PMC 11855469. PMID 40004465.

[9] Çetinkaya D, Altan M, Ceylan AC, Kılıç E (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): 429–435. doi:10.1159/000543396. PMC 12603909. PMID 41230206.

[10] Liu H, Li H, Cai Q, Zhang J, Zhong H, Hu G, et al. (January 2025). "ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome". Proceedings of the National Academy of Sciences of the United States of America. 122 (4) e2417346122. Bibcode:2025PNAS..12217346L. doi:10.1073/pnas.2417346122. PMC 11789155. PMID 39847329.

Ankyrin repeat domain 11

Function

References

Further reading