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Relevance to Autism

Missense variants at conserved residues of the CTNND2 gene were found to be significantly more frequent in autism cases than in controls (P=0.04 vs. 1000 Genomes Project; P=7.8E-04 vs. Exome Variant Server); several of these missense variants exhibited loss-of-function effects by functional analysis in zebrafish embryos and cultured hippocampal neurons (Turner et al., 2015).

Molecular Function

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Loss of -catenin function in severe autism.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, ADHD, behavioral problems
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Support
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Rictor is involved in Ctnnd2 deletion-induced impairment of spatial learning and memory but not autism-like behaviors
ASD
Support
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia
ADHD
ASD or autistic features
Support
A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.
ASD, DD
Support
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
ASD
Support
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights t...
Reading difficulties
Support
Integrating de novo and inherited variants in 42
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN711R001 
 missense_variant 
 c.100G>A 
 p.Gly34Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN711R002 
 missense_variant 
 c.2137C>T 
 p.Arg713Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN711R003 
 missense_variant 
 c.100G>A 
 p.Gly34Ser 
 Unknown 
  
 Unknown 
 GEN711R004 
 missense_variant 
 c.2137C>T 
 p.Arg713Cys 
 Unknown 
  
 Unknown 
 GEN711R005 
 missense_variant 
 c.566C>T 
 p.Pro189Leu 
 Unknown 
  
 Unknown 
 GEN711R006 
 missense_variant 
 c.671C>T 
 p.Pro224Leu 
 Unknown 
  
 Unknown 
 GEN711R007 
 missense_variant 
 c.823G>T 
 p.Gly275Cys 
 Unknown 
  
 Unknown 
 GEN711R008 
 missense_variant 
 c.1361G>A 
 p.Arg454His 
 Unknown 
  
 Unknown 
 GEN711R009 
 missense_variant 
 c.2585C>T 
 p.Thr862Met 
 Unknown 
  
 Unknown 
 GEN711R010 
 missense_variant 
 c.1520A>C 
 p.Gln507Pro 
 Unknown 
  
 Simplex 
 GEN711R011 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN711R012 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN711R013 
 missense_variant 
 c.2467G>A 
 p.Asp823Asn 
 Familial 
 Paternal 
  
 GEN711R014 
 missense_variant 
 c.2087C>T 
 p.Ser696Leu 
 Familial 
 Paternal 
  
 GEN711R015 
 translocation 
  
  
 De novo 
  
  
 GEN711R016 
 translocation 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN711R017 
 missense_variant 
 c.214G>A 
 p.Glu72Lys 
 Familial 
 Paternal 
 Simplex 
 GEN711R018 
 missense_variant 
 c.2087C>T 
 p.Ser696Leu 
 Familial 
 Maternal 
 Simplex 
 GEN711R019 
 copy_number_gain 
  
  
 De novo 
  
 Simplex 
 GEN711R020 
 translocation 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN711R021 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN711R022a 
 intron_variant 
 c.-698+75917T>G 
  
 Familial 
 Both parents 
 Simplex 
 GEN711R023 
 synonymous_variant 
 c.2904C>T 
 p.His968%3D 
 De novo 
  
  
 GEN711R024 
 synonymous_variant 
 c.2904C>T 
 p.His968%3D 
 De novo 
  
 Simplex 
 GEN711R025 
 missense_variant 
 c.2755A>G 
 p.Met919Val 
 De novo 
  
  
 GEN711R026 
 missense_variant 
 c.1034C>G 
 p.Pro345Arg 
 De novo 
  
  
 GEN711R027 
 frameshift_variant 
 c.3113_3117del 
 p.Ala1038ValfsTer64 
 Unknown 
  
  
 GEN711R028 
 missense_variant 
 c.399A>C 
 p.Glu133Asp 
 Familial 
 Maternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
Deletion-Duplication
 37
 
5
Duplication
 4
 
5
Deletion
 4
 
5
Duplication
 2
 
5
Duplication
 1
 
5
Duplication
 2
 
5
Deletion
 1
 
5
Deletion
 2
 
5
Deletion
 3
 
5
Deletion
 4
 
5
Deletion
 10
 

Model Summary

Its molecular function is described by cadherin binding. It is involved in the biological process described with dendritic spine morphogenesis, cell adhesion, embryonic body morphogenesis, adherens junction maintenance, compound eye morphogenesis, single organismal cell-cell adhesion, and regulation of actin cytoskeleton organization. p120ctn homozygous mutants exhibit decreased number of neuromuscular junction boutons and altered sleep patterns.

References

Type
Title
Author, Year
Primary
Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism.

F_P120CTN_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Stock acquired for positive mutation hit for p120ctn from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_P120CTN_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Stock acquired for positive mutation hit for p120ctn from the Bloomington Drosophila Stock Center was isogenised to the w^1118 wild type background for 7 generations.
Allele Type: Loss-of-function
Strain of Origin: w^1118
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

F_P120CTN_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Circadian rhythms: timing/phases of locomotor activity1
Abnormal
Description: p120ctn mutants lost the dark bias and displayed abnormal sleeping patterns compared to controls.
 General observations
 Adult stage
Cytoskeletal organization: neuronal: axonal transport1
Decreased
Description: p120ctn mutants showed significantly reduced number of neuromuscular junction boutons compared to controls.
 Immunohistochemistry
 Third instar larval stage
Mortality/lethality1
 No change
 General observations
 Not reported
 Not Reported: Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

F_P120CTN_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cytoskeletal organization: neuronal: axonal transport1
 No change
 Immunohistochemistry
 Third instar larval stage
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download CTNND2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTA1 actin, alpha 1, skeletal muscle 58 P68133 IP/WB; F-actin cosedimentation assay; Far Western Blot
Kim K , et al. 2002
ARHGAP21 Rho GTPase activating protein 21 57584 Q5T5U3 IP; LC-MS/MS
Koutras C and Lvesque G 2011
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 64283 Q8N1W1 IP/WB
Kim H , et al. 2008
ATN1 atrophin 1 1822 P54259 Y2H
Okamura-Oho Y , et al. 1999
CAPZB capping protein (actin filament) muscle Z-line, beta 832 P47756 IP; LC-MS/MS
Koutras C and Lvesque G 2011
CASP3 caspase 3, apoptosis-related cysteine peptidase 836 P42574 Y2H; in vitro proteolysis assay
Gu D , et al. 2011
CCDC85A coiled-coil domain containing 85A 114800 Q96PX6 Y2H; Co-localization
Markham NO , et al. 2014
CCDC85B coiled-coil domain containing 85B 11007 Q15834 Y2H; Co-localization
Markham NO , et al. 2014
CCDC85C coiled-coil domain containing 85C 317762 A6NKD9 Y2H; Co-localization
Markham NO , et al. 2014
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 999 P12830 IP/WB
Kim H , et al. 2008
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 999 P12830 IP/WB
Zhang H , et al. 2013
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 442858 F1PAA9 Y2H; IP/WB; Co-localization
Lu Q , et al. 1999
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1000 P19022 Y2H; IP/WB
Izawa I , et al. 2001
Cdh2 cadherin 2 12558 P15116 IP/WB
Poore CP , et al. 2010
Cdh2 cadherin 2 12558 P15116 IP/WB; Co-localization
Lu Q , et al. 1999
cdh3-b cadherin 3, type 1, P-cadherin (placental) 594865 P33152 IP/WB
Gu D , et al. 2011
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 Q9WU82 IP/WB
Turner TN , et al. 2015
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 477032 B6V8E6 IP/WB; Co-localization
Lu Q , et al. 1999
Cttn cortactin 13043 Q60598 IP/WB; Co-localization
Martinez MC , et al. 2003
DNM1 dynamin 1 1759 Q05193 IP; LC-MS/MS; IP/WB
Koutras C and Lvesque G 2011
DNM2 dynamin 2 1785 P50570 Y2H; IP; LC-MS/MS; IP/WB
Koutras C and Lvesque G 2011
E2F1 E2F transcription factor 1 1869 Q01094 Luciferase reporter assay
Kim K , et al. 2008
ERBB2IP erbb2 interacting protein 55914 Q96RT1 Phage display; IP/WB; in vitro binding assay; Co-localization
Laura RP , et al. 2002
Fyn Fyn proto-oncogene 14360 P39688 IP/WB
Martinez MC , et al. 2003
GCH1 GTP cyclohydrolase 1 2643 P30793 IP; LC-MS/MS
Koutras C and Lvesque G 2011
GLTP glycolipid transfer protein 51228 Q9NZD2 Y2H; IP/WB
Gao Y , et al. 2011
GRIP1 glutamate receptor interacting protein 1 23426 Q9Y3R0 IP/WB
IP/WB; Co-localization
Silverman JB , et al. 2007
HES1 hairy and enhancer of split 1, (Drosophila) 3280 Q14469 ChIP; EMSA; Luciferase reporter assay
Lu JP , et al. 2010
INA internexin neuronal intermediate filament protein, alpha 9118 Q16352 IP; LC-MS/MS
Koutras C and Lvesque G 2011
IRF2BP1 interferon regulatory factor 2 binding protein 1 26145 Q8IU81 IP; LC-MS/MS
Koutras C and Lvesque G 2011
IRF2BP2 interferon regulatory factor 2 binding protein 2 359948 Q7Z5L9 IP; LC-MS/MS
Koutras C and Lvesque G 2011
IRF2BPL interferon regulatory factor 2 binding protein-like 64207 Q9H1B7 IP; LC-MS/MS
Koutras C and Lvesque G 2011
Lck lymphocyte protein tyrosine kinase 16818 P06240 IP/WB
Martinez MC , et al. 2003
LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase 84708 Q8TBB1 Peptide microarray; Y2H; in vitro ubiquitination assay
Guo Z , et al. 2012
LRRC7 leucine rich repeat containing 7 57554 Q96NW7 Y2H; in vitro binding assay; IP/WB; Co-localization
Izawa I , et al. 2001
LRRC7 leucine rich repeat containing 7 57554 Q96NW7 IP/WB; Co-localization
Quitsch A , et al. 2005
MAPK1 mitogen-activated protein kinase 1 5594 P28482 in vitro kinase assay; IP; LC-MS/MS
Edbauer D , et al. 2008
MAPK8 mitogen-activated protein kinase 8 5599 P45983 in vitro kinase assay; IP; LC-MS/MS
Edbauer D , et al. 2008
PABPC1 poly(A) binding protein, cytoplasmic 1 26986 P11940 IP; LC-MS/MS
Koutras C and Lvesque G 2011
Pax6 paired box gene 6 18508 P63015 EMSA
Duparc RH , et al. 2006
PRR36 proline rich 36 80164 Q9H6K5 IP; LC-MS/MS
Koutras C and Lvesque G 2011
PSEN1 presenilin 1 5663 P49768 Y2H; IP/WB; Rate-zonal centrifugation; Co-localization
Levesque G , et al. 1999
PSEN1 presenilin 1 5663 P49768 Y2H; in vitro binding assay; IP/WB
Zhou J , et al. 1997
PSEN2 presenilin 2 (Alzheimer disease 4) 5664 P49810 IP/WB
Levesque G , et al. 1999
RHOA ras homolog gene family, member A 387 P61586 IP/WB
Zhang D , et al. 2014
SHANK3 SH3 and multiple ankyrin repeat domains 3 85358 Q9BYB0 IP/WB
Quitsch A , et al. 2005
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 292 P05141 IP; LC-MS/MS
Koutras C and Lvesque G 2011
Sphk1 sphingosine kinase 1 20698 Q8CI15 Y2H; IP/WB; Co-localization; in vitro kinase assay
Fujita T , et al. 2004
SRRM2 serine/arginine repetitive matrix 2 23524 Q9UQ35 IP; LC-MS/MS
Koutras C and Lvesque G 2011
WRNIP1 Werner helicase interacting protein 1 56897 Q96S55 IP; LC-MS/MS
Koutras C and Lvesque G 2011
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 7531 P62258 IP/WB
He Y , et al. 2013
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 7534 P63104 IP/WB
He Y , et al. 2013
ZBTB33 zinc finger and BTB domain containing 33 10009 Q86T24 IP/WB
Dai SD , et al. 2010
ZDHHC5 zinc finger, DHHC-type containing 5 25921 Q9C0B5 IP/WB
Brigidi GS , et al. 2014
Abl1 c-abl oncogene 1, non-receptor tyrosine kinase 11350 P00520 IP/WB; in vitro kinase assay; Co-localization
Lu Q , et al. 2002
Akt1 thymoma viral proto-oncogene 1 11651 P31750 in vitro kinase assay
Kim H , et al. 2007
Apc adenomatosis polyposis coli 11789 Q61315 IP/WB
Bareiss S , et al. 2010
Arhgef28 Rho guanine nucleotide exchange factor (GEF) 28 110596 P97433 IP/WB
Kim H , et al. 2007
Cdh2 cadherin 2, type 1, N-cadherin (neuronal) 83501 Q9Z1Y3 IP/WB; Co-localization
Brigidi GS , et al. 2014
Cdh2 cadherin 2, type 1, N-cadherin (neuronal) 83501 Q9Z1Y3 Co-localization
Yuan L , et al. 2015
Cdk5 cyclin-dependent kinase 5 12568 P49615 in vitro kinase assay
Poore CP , et al. 2010
Ctnnb1 catenin (cadherin associated protein), beta 1 12387 Q02248 IP/WB
Bareiss S , et al. 2010
Dact1 dapper homolog 1, antagonist of beta-catenin (xenopus) 59036 Q8R4A3 IP/WB
Kivime S , et al. 2011
Dact2 dapper homolog 2, antagonist of beta-catenin (xenopus) 240025 Q7TN08 IP/WB
Kivime S , et al. 2011
Dlg4 Postsynaptic density protein 95 13385 Q62108 IP/WB
Poore CP , et al. 2010
Fgr Gardner-Rasheed feline sarcoma viral (Fgr) oncogene homolog 14191 P14234 IP/WB
He Y , et al. 2014
Fyn Fyn proto-oncogene 14360 P39688 IP/WB
He Y , et al. 2014
Grip1 glutamate receptor interacting protein 1 74053 Q925T6 IP/WB
Poore CP , et al. 2010
Gsk3a glycogen synthase kinase 3 alpha 606496 Q9WV60 IP/WB; in vitro kinase assay
Oh M , et al. 2009
Gsk3b glycogen synthase kinase 3 beta 56637 Q9WV60 IP/WB; in vitro kinase assay
Oh M , et al. 2009
Gsk3b glycogen synthase kinase 3 beta 56637 Q9WV60 IP/WB; Co-localization
Bareiss S , et al. 2010
Gsk3b glycogen synthase kinase 3 beta 56637 Q9WV60 IP/WB
He Y , et al. 2014
Lck lymphocyte protein tyrosine kinase 16818 P06240 IP/WB
He Y , et al. 2014
LEF1 lymphoid enhancer-binding factor 1 51176 Q659G9 IP/WB; Luciferase reporter assay
He Y , et al. 2015
SRC v-src sarcoma viral oncogene 396442 P00523 IP/WB; in vitro kinase assay
He Y , et al. 2014
Ubc ubiquitin C 22190 P0CG50 IP/WB
Bareiss S , et al. 2010
Ubc ubiquitin C 22190 P0CG50 IP/WB
Toyo-oka K , et al. 2014
Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 22627 P62259 IP/WB
Kim H , et al. 2007
Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 22627 P62259 IP/WB
Toyo-oka K , et al. 2014
Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 22631 P63101 in vitro binding assay; IP/WB
Mackie S and Aitken A 2005
Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 22631 P63101 IP/WB
Kim H , et al. 2007
Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 22631 P63101 IP/WB
Toyo-oka K , et al. 2014
Zbtb33 Transcriptional regulator Kaiso 56805 Q8BN78 IP/WB; Co-localization
Rodova M , et al. 2004
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 999 P12830 IP/WB; Co-localization
Silverman JB , et al. 2007
Cdh2 cadherin 2, type 1, N-cadherin (neuronal) 83501 Q9Z1Y3 IP/WB
Martinez MC , et al. 2003
Cdh2 cadherin 2, type 1, N-cadherin (neuronal) 83501 Q9Z1Y3 IP/WB; Co-localization
Silverman JB , et al. 2007
Cdh2 cadherin 2, type 1, N-cadherin (neuronal) 83501 Q9Z1Y3 IP/WB
Abu-Elneel K , et al. 2008
Cdh2 cadherin 2, type 1, N-cadherin (neuronal) 83501 Q9Z1Y3 IP; LC-MS/MS
Tanaka H , et al. 2012
Cdk5 cyclin-dependent kinase 5 140908 Q03114 IP/WB; in vitro kinase assay
Muoz JP , et al. 2006
Cdk5r1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) 116671 P61810 IP/WB; Co-localization; in vitro kinase assay
Muoz JP , et al. 2006
CTTN cortactin 2017 Q14247 IP/WB
Abu-Elneel K , et al. 2008
Dlg4 discs, large homolog 4 (Drosophila) 29495 P31016 IP/WB; Co-localization
Silverman JB , et al. 2007
Dlg4 discs, large homolog 4 (Drosophila) 29495 P31016 IP/WB
Abu-Elneel K , et al. 2008
Gria2 glutamate receptor, ionotropic, AMPA 2 29627 P19491 IP/WB; Co-localization
Silverman JB , et al. 2007
GRIP1 glutamate receptor interacting protein 1 23426 Q9Y3R0 IP/WB
IP/WB; Co-localization
Silverman JB , et al. 2007
Grip2 glutamate receptor interacting protein 2 171571 Q9WTW1 Y2H; in vitro binding assay; IP/WB; Co-localization
Silverman JB , et al. 2007
Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 113970 O88382 Y2H; IP/WB; Far Western Blot; Surface plasmon resonance (SPR)
Ide N , et al. 1999
Pdzd2 PDZ domain containing 2 65034 Q9QZR8 Y2H; IP/WB
Deguchi M , et al. 2000
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 5300 Q13526 in vitro binding assay
Muoz JP , et al. 2006

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