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
364409752023ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.5
365849912023[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].0
366285752023Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.1
372902862023Identification and functional characterization of a bipartite nuclear localization signal in ANKRD11.1
375112682023Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer.0
364409752023ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.5
365849912023[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].0
366285752023Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.1
372902862023Identification and functional characterization of a bipartite nuclear localization signal in ANKRD11.1
375112682023Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer.0
355982612022[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].0
356825902022Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.4
358339292022Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.8
355982612022[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].0
356825902022Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.4

Citation

Dessen P

ANKRD11 (ankyrin repeat domain 11)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/644/ankrd11-(ankyrin-repeat-domain-11)