ANKRD11
Ankyrin Repeat Domain 11; a chromatin regulator implicated in KBG syndrome and cancer
Gene Information Card
| Symbol | ANKRD11 |
|---|---|
| Full Name | Ankyrin Repeat Domain 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 29123 ncbi.nlm.nih.gov/gene/29123 |
| Ensembl ID | ENSG00000167522 |
| UniProt ID | Q6UB98 |
| OMIM ID | 611192 |
| HGNC ID | 21316 |
| Aliases | T13, ANCO1, LZ16, KANAD1 |
Description
ANKRD11 encodes a chromatin regulator that contains ankyrin repeats and a nuclear localization signal. It functions as a transcriptional coactivator or corepressor by interacting with histone deacetylases (HDACs) and p53. ANKRD11 is essential for normal brain development and bone formation. Heterozygous loss-of-function mutations cause KBG syndrome, and somatic alterations are observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| KBG syndrome | Heterozygous loss-of-function mutations in ANKRD11 lead to haploinsufficiency, disrupting chromatin regulation and causing developmental defects. | ClinVar, OMIM |
| Intellectual disability | ANKRD11 mutations impair neuronal gene expression programs, contributing to cognitive deficits. | ClinVar, OMIM |
| Autism spectrum disorder | Rare ANKRD11 variants are associated with ASD, likely through altered synaptic gene regulation. | ClinVar |
| Breast cancer | Somatic ANKRD11 mutations and copy number loss may contribute to tumor progression via p53 pathway dysregulation. | COSMIC |
| Colorectal cancer | Recurrent ANKRD11 frameshift and nonsense mutations suggest a tumor suppressor role. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney |
| HeLa | 11.2 | Cervical carcinoma |
| K562 | 9.8 | Leukemia |
| HepG2 | 7.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1465C>T (p.Arg489*) | Nonsense | <0.01% | Loss-of-function; associated with KBG syndrome |
| c.2203C>T (p.Arg735*) | Nonsense | <0.01% | Loss-of-function; KBG syndrome |
| c.5326C>T (p.Arg1776*) | Nonsense | <0.01% | Loss-of-function; KBG syndrome |
| c.1234_1235del (p.Lys412fs) | Frameshift | <0.01% | Loss-of-function; KBG syndrome |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss-of-function; KBG syndrome |
Mutation functional classification
Loss of Function (LOF)
Majority of ANKRD11 disease-associated mutations are loss-of-function (nonsense, frameshift, start loss) leading to haploinsufficiency.
Gain of Function (GOF)
No well-established gain-of-function mutations reported.
Dominant Negative (DN)
Not described; haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • transcription coregulator activity |
| • histone deacetylase binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • negative regulation of cell cycle |
| • positive regulation of apoptotic process |
Pathways
• p53 signaling pathway
• Chromatin modifying enzymes
• Transcriptional regulation by RUNX1
Protein Summary
ANKRD11 is a 2663-amino acid nuclear protein containing multiple ankyrin repeats. It acts as a scaffold that recruits HDACs to repress transcription and also interacts with p53 to modulate apoptosis and cell cycle. The protein is widely expressed, with highest levels in brain and testis. Loss of ANKRD11 function disrupts chromatin dynamics, leading to developmental disorders and potentially contributing to tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD11 Knockout HEK293 Cell Line | EDJ-KQ9000 | Human | 29123 | Details Get a Quote |
| ANKRD11 Knockout A-549 Cell Line | EDJ-KQ34179 | Human | 29123 | Details Get a Quote |
| ANKRD11 Knockout HCT 116 Cell Line | EDJ-KQ35440 | Human | 29123 | Details Get a Quote |
| ANKRD11 Knockout HeLa Cell Line | EDJ-KQ35441 | Human | 29123 | Details Get a Quote |
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