protein
Ankyrin repeat domain-containing protein 11
Gene
ANKRD11
Organism
Homo sapiens(9606)
Length
2663 aa
Mass
297,913 Da
ANKRD11 (ankyrin repeat domain-containing protein 11) is a chromatin regulator that modulates histone acetylation and gene expression, particularly in neural precursor cells (UniProt: Q6UB99). The protein functions by recruiting histone deacetylases to nuclear receptor complexes to inhibit transactivation, and plays a role in proliferation and development of cortical neural precursors, as well as bone homeostasis regulation.
ANKRD11 is associated with KBG syndrome, a condition characterized by distinctive craniofacial features, short stature, skeletal anomalies, and significant neurological involvement including global developmental delay, seizures, and intellectual disability (UniProt: Q6UB99). The protein's function in chromatin regulation and neural development directly relates to these manifestations.
ANKRD11 carries SFARI classification as a syndromic autism-associated gene (SFARI Cat S), reflecting its role in neurodevelopmental disorders presenting with autism spectrum features alongside the broader clinical phenotype of KBG syndrome.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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)
Disease associations
KBG syndromeKBGS
A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
Sources
Last updated 5/6/2026, 5:24:27 AM