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Relevance to Autism

Studies have identified rare mutations in the ANKRD11 gene with autism.

Molecular Function

Transcription factor that may recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Defects in ANKRD11 are the cause of KBG syndrome (KBGS) [MIM:148050], 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.

External Links

       

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
ASD
Support
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
ID
Support
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
ASD
Highly Cited
Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.
Recent Recommendation
Identification of ANKRD11 as a p53 coactivator.
Recent Recommendation
Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function.
Recent Recommendation
Subcellular localization of ankyrin repeats cofactor-1 regulates its corepressor activity.
Recent Recommendation
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN011R001 
 Deletion 
 N/A 
 N/A 
 De novo 
  
  
 GEN011R002 
 Deletion 
 N/A 
 N/A 
 De novo 
  
  
 GEN011R003 
 Deletion 
 N/A 
 N/A 
 De novo 
  
  
 GEN011R004 
 Deletion 
 N/A 
 N/A 
 De novo 
  
  
 GEN011R005 
 Deletion 
 N/A 
 N/A 
 De novo 
  
 Simplex 
 GEN011R006 
 Splice-site 
 c.7570-1G>C 
 Glu2524_Lys2525del 
 Familial 
 Paternal 
 Multi-generational 
 GEN011R007 
 Frameshift deletion 
 c.2305delT 
 Ser769GlnfsX8 
 De novo 
  
 Simplex 
 GEN011R008 
 Nonsense 
 c.7189C>T 
 Gln2397X 
 De novo 
  
 Simplex 
 GEN011R009 
 Frameshift deletion 
 c.5953_5954delCA 
 Gln1985GlufsX46 
 De novo 
  
 Simplex 
 GEN011R010 
 Frameshift deletion 
 c.6071_6084delCGTACGCTCTGCCC 
 Pro2024ArgfsX3 
 De novo 
  
 Simplex 
 GEN011R011 
 Deletion 
  
  
 De novo 
  
 Simplex 
 GEN011R012 
 Deletion 
  
  
 De novo 
  
 Simplex 

Common

No Common Variants Available



Model Summary

Identification of a novel genetic regulator of bone homeostasis.

External Links

AllenBrainAtlas   MGI Logo  Entrez Gene

References

Type
Title
Author, Year
Primary
An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.

ANKRD11_1_CM_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Chemically induced mutagenesis utilizing N-ethyl-N-nitosourea (ENU) resulting in a G/C to A/T transition which leads to a nonconvervative substitution of lysine for glutamine in exon 11 of the Ankrd11 gene
Allele Type: Chemical Mutation
Strain of Origin: BALB/cCr1Ann
Genetic Background: BALB/cCr1Ann x C3H/HeH
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

ANKRD11_2_CM_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Chemically induced mutagenesis utilizing N-ethyl-N-nitosourea (ENU) resulting in a G/C to A/T transition which leads to a nonconvervative substitution of lysine for glutamine in exon 11 of the Ankrd11 gene
Allele Type: Chemical Mutation
Strain of Origin: BALB/cCr1Ann
Genetic Background: BALB/cCr1Ann x C3H/HeH
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

ANKRD11_1_CM_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Lethality1
Increased
Description: Embryonic lethality: Decreased size and failed to turn. Presence of allantoic remnants
Exp Paradigm: General Observation
 General Observation
 E9.5
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Motor phenotype ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  

ANKRD11_2_CM_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Developmental Trajectory1
Decreased
Description: Decreased cortical bone area, periosteal perimeter, and endosteal perimeter
Exp Paradigm: Female Mice: Bone Histomorphometry
 Histomorphometry
 15 months
Developmental Trajectory1
Decreased
Description: Decreased number of osteoclasts
Exp Paradigm: Female Mice: Measurement from histological sections of tibiae
 Histological sections
 15 months
Craniofacial Abnormalities1
Abnormal
Description: Abnormal Cranial bone morphology: Incomplete closure of the interfrontal suture; Decreased interdigitation pattern of the frontonasal suture; abnormal nasal bone morphology
Exp Paradigm: Alizarin red S and Alcian blue staining of skulls
 Skull staining
 Unreported
Developmental Trajectory1
Abnormal
Description: No difference in cancellous bone mass; No difference in dynamic histomorphometric bone parameters at the proximal region; Decreased parameters at distal region; Decreased tissue volume and bone surface feferents
Exp Paradigm: Bone histomorphometry
 Bone histomorphometry
 Unreported
Craniofacial Abnormalities1
Abnormal
Description: Shorter, wider faces: Decreased nasal and frontal bone length; Increased skull width and parietal bone length.
Exp Paradigm: General Observation; Cranial measurements using hand calipers
 General Observation; Cranial measurements using hand calipers
 Unreported
Size/Growth1
Decreased
Description: Decreased weight and body length
Exp Paradigm: General Observation
 General Observation
 Unreported
Developmental Trajectory1
Decreased
Description: Decreased Bone Mineral Density (BMD) and Bone mineral content (BMC) in excised femora, tibiae, lumbar vertebrae (L1-L6), and cortical components; Spinal kyphosis.
Exp Paradigm: Dual-energy X-ray absorptiometry (DXA) analysis of whole body followed by peripheral quantitative computed tomography (pQCT)
 DXA Analysis
 12 weeks - 15 months
Developmental Trajectory1
 No Change
 Histomorphometry
 15 months
Developmental Trajectory1
 No Change
 Histological sections
 15 months
Plasma biochemistry1
 No Change
 AU400 Automated Clinical Chemistry Analyzer
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Motor phenotype ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  



Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
HDAC3 Histone deacetylase 3 8841 O15379 GST
IP/WB (COS-7 cells)
Zhang A 2004
HDAC4 histone deacetylase 4 9759 P56524 GST
IP/WB (COS-7 cells)
Zhang A 2004
HDAC5 Histone deacetylase 5 10014 Q9UQL6 GST
IP/WB (COS-7 cells)
Zhang A 2004
NCOA2 nuclear receptor coactivator 2 10499 Q15596 GST
Zhang A 2004
NCOA3 nuclear receptor coactivator 3 8202 Q9Y6Q9 GST
Y2H
Zhang A 2004
SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) 6714 P12931 GST
Zhang A 2004
TADA3 transcriptional adaptor 3 10474 O75528 GST
IP/WB (HEK293 cells)
Y2H
Li CW 2008
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP (HeLa cells)
Xu D 2013
TP53 tumor protein p53 7157 P04637 GST
IP/WB (HCT116 cells)
IP/WB (HEK293T cells)
IP/WB (MCF-7 cells)
Neilsen PM 2008

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