¶ ANKRD11 — Ankyrin Repeat Domain 11
ANKRD11 (Ankyrin Repeat Domain 11) encodes a transcriptional regulator containing ankyrin repeat domains. It acts as a cofactor for histone acetylation and is crucial for neuronal development and function.
ANKRD11 (Ankyrin Repeat Domain 11) encodes a transcriptional co-regulator that modulates gene expression through histone acetylation. It is highly expressed in the brain and has been implicated in neurodevelopment and neurodegeneration. Mutations cause KBG syndrome, characterized by intellectual disability and dysmorphic features.
| Attribute |
Value |
| Symbol |
ANKRD11 |
| Full Name |
Ankyrin Repeat Domain 11 |
| Chromosomal Location |
16q24.3 |
| NCBI Gene ID |
55470 |
| OMIM |
611160 |
| Ensembl ID |
ENSG00000167535 |
| UniProt ID |
Q9Y2J0 |
| Associated Diseases |
KBG Syndrome, Autism Spectrum Disorder, Intellectual Disability |
ANKRD11 is a transcriptional regulator with multiple functions:
- Histone Acetylation Coactivator: ANKRD11 interacts with histone acetyltransferases (p300/CBP) to enhance transcription
- Ankyrin Repeat Structure: The ankyrin repeat domains mediate protein-protein interactions
- Transcriptional Regulation: Modulates expression of genes involved in neuronal development and synaptic function
- Cell Growth Regulation: Controls cell cycle progression and differentiation
- Neuroprotection: May protect against oxidative stress and apoptosis in neurons
- Caused by: Heterozygous ANKRD11 mutations (typically truncating)
- Inheritance: Autosomal dominant
- Features:
- Characteristic facial features (broad nasal bridge, triangular face)
- Global developmental delay/intellectual disability
- Macrocephaly
- Short stature
- Dental anomalies
- Seizures in some cases
- Behavioral problems (autism spectrum disorder, ADHD)
- ANKRD11 is implicated in autism spectrum disorder
- Associated with intellectual disability without KBG syndrome features
- May affect synaptic plasticity and neural circuit formation
ANKRD11 shows widespread but specific expression:
- Brain: High expression in cerebral cortex, hippocampus, and cerebellum
- Neurons: Present in excitatory and inhibitory neurons
- Development: High expression during brain development
- Subcellular Localization: Nuclear, associated with chromatin
- Sirmaci et al., ANKRD11 mutations cause KBG syndrome (2011)
- Gallagher et al., ANKRD11 and transcriptional regulation (2015)
- Kleefstra et al., KBG syndrome clinical features (2012)