ANKRD11 (ankyrin repeat domain 11)

2003-06-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
ANCO-1,ANCO1,LZ16,T13
FUSION GENES

Other Information

Locus ID:

NCBI: 29123
MIM: 611192
HGNC: 21316
Ensembl: ENSG00000167522

Variants:

dbSNP: 29123
ClinVar: 29123
TCGA: ENSG00000167522
COSMIC: ANKRD11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167522ENST00000301030Q6UB99
ENSG00000167522ENST00000330736H0Y2U4
ENSG00000167522ENST00000378330Q6UB99
ENSG00000167522ENST00000378332H0Y3E3
ENSG00000167522ENST00000562275H0Y2U4
ENSG00000167522ENST00000563291H3BNU4
ENSG00000167522ENST00000566858H3BNU4
ENSG00000167522ENST00000567736H3BNU4
ENSG00000167522ENST00000613312A0A087WTN8
ENSG00000167522ENST00000642333A0A2R8YE03
ENSG00000167522ENST00000642443A0A2R8Y438
ENSG00000167522ENST00000642600Q6UB99
ENSG00000167522ENST00000642695A0A2R8YE03
ENSG00000167522ENST00000643964H0Y2U4
ENSG00000167522ENST00000644045A0A2R8Y7Z1
ENSG00000167522ENST00000644285X5D778
ENSG00000167522ENST00000644784A0A2R8YE03
ENSG00000167522ENST00000645278A0A2R8Y5V1
ENSG00000167522ENST00000645664A0A2R8Y728
ENSG00000167522ENST00000646166A0A2R8Y4T9
ENSG00000167522ENST00000646838A0A2R8YE03
ENSG00000167522ENST00000646975A0A2R8YEI0
ENSG00000167522ENST00000647213A0A2R8YE94
ENSG00000167522ENST00000647238H3BNU4

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217821492011Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.59
188406482008Identification of ANKRD11 as a p53 coactivator.28
199208532010Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.26
256524212016Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.20
254247142015Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.17
254136982015Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.16
175216112007Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1.14
225381872012Specific-site methylation of tumour suppressor ANKRD11 in breast cancer.13
231844352013Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.12
276050972016Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.11

Citation

Dessen P

ANKRD11 (ankyrin repeat domain 11)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/644/ankrd11