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Ankyrin repeat domain 11

Protein-coding gene in the species Homo sapiens

ANKRD11
Identifiers
Aliases	ANKRD11, ANCO-1, ANCO1, LZ16, T13, ankyrin repeat domain 11, ankyrin repeat domain containing 11
External IDs	OMIM: 611192; MGI: 1924337; HomoloGene: 69134; GeneCards: ANKRD11; OMA:ANKRD11 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q24.3 Start 89,267,630 bp[1] End 89,490,561 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 123,610,561 bp[2] End 123,769,016 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS n/a
Orthologs Species Human Mouse Entrez 29123 77087 Ensembl ENSG00000167522 ENSMUSG00000035569 UniProt Q6UB99 E9Q4F7 RefSeq (mRNA) NM_001256182 NM_001256183 NM_013275 NM_001081379 RefSeq (protein) NP_001243111 NP_001243112 NP_037407 NP_001074848 Location (UCSC) Chr 16: 89.27 – 89.49 Mb Chr 8: 123.61 – 123.77 Mb PubMed search [3] [4]
Wikidata
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Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.^[5]

Function[edit]

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, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.

References[edit]

Further reading[edit]

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

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