ankyrin repeat domain 11
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedKBG syndrome
hereditary disease
Global developmental delay
Intellectual disability
neurodevelopmental disorder
Rare genetic intellectual disability
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
developmental disability
Conductive hearing impairment
Seizure
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Ankyrin repeat domain-containing protein 11
Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity)
Curated MONDO disease pages that list ANKRD11 among their top associated genes.
ANKRD11 · Q6UB99
Mean pLDDT
39.2/ 100
Very low
2,663 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
