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Aliases for CTNND2 Gene

Aliases for CTNND2 Gene

  • Catenin Delta 2 2 3 5
  • Neurojungin 2 3 4
  • Catenin (Cadherin-Associated Protein), Delta 2 (Neural Plakophilin-Related Arm-Repeat Protein) 2 3
  • NPRAP 3 4
  • GT24 3 4
  • Catenin (Cadherin-Associated Protein), Delta 2 2
  • Neural Plakophilin-Related ARM-Repeat Protein 4
  • Neural Plakophilin-Related Arm-Repeat Protein 2
  • T-Cell Delta-Catenin 3
  • Catenin Delta-2 3
  • Delta-Catenin 4

External Ids for CTNND2 Gene

Previous GeneCards Identifiers for CTNND2 Gene

  • GC05M011139
  • GC05M011004
  • GC05M011024

Summaries for CTNND2 Gene

Entrez Gene Summary for CTNND2 Gene

  • 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. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

GeneCards Summary for CTNND2 Gene

CTNND2 (Catenin Delta 2) is a Protein Coding gene. Diseases associated with CTNND2 include Benign Adult Familial Myoclonic Epilepsy and Cri-Du-Chat Syndrome. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is PKP4.

UniProtKB/Swiss-Prot for CTNND2 Gene

  • Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.

Additional gene information for CTNND2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNND2 Gene

Genomics for CTNND2 Gene

GeneHancer (GH) Regulatory Elements for CTNND2 Gene

Promoters and enhancers for CTNND2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J011903 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 -0.3 -266 1.4 PKNOX1 NFIB NEUROD1 KLF17 SIN3A NFXL1 BMI1 KLF14 RFX5 ZNF335 CTNND2 PIR60995
GH05J011588 Promoter/Enhancer 1 EPDnew ENCODE 650.1 +314.9 314859 0.9 RFX1 POLR2A ZNF341 MAX CTNND2 GC05P011580 GC05M011864
GH05J011904 Enhancer 0.5 ENCODE 650.7 +0.6 579 0.2 ZNF335 CREB1 ZNF444 EZH2 CTNND2 GC05M011864
GH05J011905 Enhancer 0.4 ENCODE 650.7 +0.8 779 0.2 ZNF335 CREB1 EZH2 CTNND2 GC05M011864
GH05J012329 Enhancer 0.7 ENCODE dbSUPER 9.9 -427.9 -427891 4 SP1 USF1 POLR2A NANOG MAX POU5F1 CTBP2 CTNND2 LOC105374656 RNU6-679P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTNND2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTNND2 gene promoter:

Genomic Locations for CTNND2 Gene

Genomic Locations for CTNND2 Gene
932,204 bases
Minus strand

Genomic View for CTNND2 Gene

Genes around CTNND2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNND2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNND2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNND2 Gene

Proteins for CTNND2 Gene

  • Protein details for CTNND2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Catenin delta-2
    Protein Accession:
    Secondary Accessions:
    • B0FTZ7
    • O00379
    • O15390
    • O43206
    • O43840
    • Q13589
    • Q9UM66
    • Q9UPM3

    Protein attributes for CTNND2 Gene

    1225 amino acids
    Molecular mass:
    132656 Da
    Quaternary structure:
    • Binds to E-cadherin at a juxtamembrane site within the cytoplasmic domain (By similarity). Interacts with PDZD2 (By similarity). Interacts with ZBTB33 (By similarity). Binds to PSEN1 (PubMed:10037471) (PubMed:10208590) (PubMed:9223106). Interacts with ARHGEF28 (PubMed:17993462). Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain) (PubMed:19706687). Interacts with CDK5 (By similarity). Interacts with CTNNB1 (PubMed:25807484). Interacts with GSK3A and GSK3B (PubMed:19706605). Interacts with DNM2 (PubMed:22022388).
    • Sequence=AAB68599.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAB88185.1; Type=Frameshift; Positions=913; Evidence={ECO:0000305};

    Alternative splice isoforms for CTNND2 Gene


neXtProt entry for CTNND2 Gene

Post-translational modifications for CTNND2 Gene

No data available for DME Specific Peptides for CTNND2 Gene

Domains & Families for CTNND2 Gene

Gene Families for CTNND2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CTNND2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-catenin family.
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with CTNND2: view

Function for CTNND2 Gene

Molecular function for CTNND2 Gene

UniProtKB/Swiss-Prot Function:
Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.
GENATLAS Biochemistry:
catenin delta 2,interacting with presenilin 1,homologous to Drosophila Armadillo segment polarity gene,involved in the molecular organization of synaptic junctions through interaction with the synaptic scaffolding molecule

Phenotypes From GWAS Catalog for CTNND2 Gene

Gene Ontology (GO) - Molecular Function for CTNND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19706605
GO:0008013 beta-catenin binding IPI 25807484
genes like me logo Genes that share ontologies with CTNND2: view
genes like me logo Genes that share phenotypes with CTNND2: view

Human Phenotype Ontology for CTNND2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTNND2 Gene

MGI Knock Outs for CTNND2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNND2

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CTNND2 Gene

Localization for CTNND2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNND2 Gene

Nucleus. Cell junction, adherens junction. Cell projection, dendrite. Perikaryon.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNND2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTNND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS 9342840
GO:0005912 adherens junction IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with CTNND2: view

Pathways & Interactions for CTNND2 Gene

SuperPathways for CTNND2 Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with CTNND2: view

Pathways by source for CTNND2 Gene

1 BioSystems pathway for CTNND2 Gene

Gene Ontology (GO) - Biological Process for CTNND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007155 cell adhesion TAS 9223106
GO:0007165 signal transduction TAS 9223106
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with CTNND2: view

No data available for SIGNOR curated interactions for CTNND2 Gene

Drugs & Compounds for CTNND2 Gene

(1) Drugs for CTNND2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CTNND2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTNND2: view

Transcripts for CTNND2 Gene

mRNA/cDNA for CTNND2 Gene

(1) Selected AceView cDNA sequences:
(13) Additional mRNA sequences :
(14) REFSEQ mRNAs :
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CTNND2 Gene

Catenin (cadherin-associated protein), delta 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNND2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNND2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - -
SP2: -
SP3: -

ExUns: 22

Relevant External Links for CTNND2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTNND2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTNND2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTNND2 Gene

This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Frontal Cortex (BA9) (x5.0), Brain - Cortex (x4.9), Brain - Hippocampus (x4.8), Brain - Putamen (basal ganglia) (x4.7), and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for CTNND2 Gene

This gene is overexpressed in Brain (17.1), Cervix (14.9), Frontal cortex (12.7), and Fetal Brain (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTNND2 Gene

Protein tissue co-expression partners for CTNND2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTNND2 Gene:


SOURCE GeneReport for Unigene cluster for CTNND2 Gene:


mRNA Expression by UniProt/SwissProt for CTNND2 Gene:

Tissue specificity: Expressed in brain; highest expression is observed in fetal brain (PubMed:25807484).

Evidence on tissue expression from TISSUES for CTNND2 Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNND2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • vocal cord
  • esophagus
  • lung
  • rib
  • rib cage
  • abdominal wall
  • intestine
  • kidney
  • stomach
  • pelvis
  • penis
  • testicle
  • urethra
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CTNND2: view

Orthologs for CTNND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNND2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CTNND2 34 33
  • 99.56 (n)
(Ornithorhynchus anatinus)
Mammalia CTNND2 34
  • 95 (a)
(Monodelphis domestica)
Mammalia CTNND2 34
  • 93 (a)
(Canis familiaris)
Mammalia CTNND2 34 33
  • 92.64 (n)
(Bos Taurus)
Mammalia CTNND2 34 33
  • 92.54 (n)
(Mus musculus)
Mammalia Ctnnd2 16 34 33
  • 91.51 (n)
(Rattus norvegicus)
Mammalia Ctnnd2 33
  • 90.89 (n)
(Gallus gallus)
Aves CTNND2 34 33
  • 81.29 (n)
(Anolis carolinensis)
Reptilia CTNND2 34
  • 87 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnd2 33
  • 76.54 (n)
(Danio rerio)
Actinopterygii ctnnd2b 34
  • 78 (a)
ctnnd2a 34 33
  • 74.01 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011273 33
  • 57.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 34 35 33
  • 51.64 (n)
(Caenorhabditis elegans)
Secernentea jac-1 34 35
  • 24 (a)
Species where no ortholog for CTNND2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTNND2 Gene

Gene Tree for CTNND2 (if available)
Gene Tree for CTNND2 (if available)
Evolutionary constrained regions (ECRs) for CTNND2: view image

Paralogs for CTNND2 Gene

Paralogs for CTNND2 Gene

(6) SIMAP similar genes for CTNND2 Gene using alignment to 9 proteins:

  • D6R9A8_HUMAN
  • D6RC65_HUMAN
  • D6RF55_HUMAN
genes like me logo Genes that share paralogs with CTNND2: view

Variants for CTNND2 Gene

Sequence variations from dbSNP and Humsavar for CTNND2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
VAR_036162 A colorectal cancer sample p.Pro1159Ser
rs1057518120 likely-pathogenic, not provided 11,397,173(-) T/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs1064796494 likely-pathogenic, not provided 11,384,946(-) G/T coding_sequence_variant, intron_variant, stop_gained
rs886041494 likely-pathogenic, not provided 11,082,831(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs142843736 uncertain-significance, not provided 11,346,480(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CTNND2 Gene

Variant ID Type Subtype PubMed ID
dgv1071e214 CNV loss 21293372
dgv1578e212 CNV loss 25503493
dgv1579e212 CNV loss 25503493
dgv3038n106 CNV deletion 24896259
dgv3039n106 CNV deletion 24896259
dgv3223e59 CNV duplication 20981092
dgv5570n100 CNV gain 25217958
dgv9583n54 CNV gain 21841781
dgv9584n54 CNV loss 21841781
esv1023282 CNV deletion 17803354
esv1034832 CNV deletion 17803354
esv1056345 CNV deletion 17803354
esv1436814 CNV insertion 17803354
esv1474334 CNV insertion 17803354
esv1539730 CNV insertion 17803354
esv2161141 CNV deletion 18987734
esv22991 CNV loss 19812545
esv2453497 CNV deletion 19546169
esv2548561 CNV insertion 19546169
esv2560131 CNV deletion 19546169
esv25983 CNV loss 19812545
esv2660889 CNV deletion 23128226
esv2665180 CNV deletion 23128226
esv2665217 CNV deletion 23128226
esv2668679 CNV deletion 23128226
esv27150 CNV gain 19812545
esv2729748 CNV deletion 23290073
esv2729749 CNV deletion 23290073
esv2729750 CNV deletion 23290073
esv2729752 CNV deletion 23290073
esv2729753 CNV deletion 23290073
esv2729754 CNV deletion 23290073
esv2729755 CNV deletion 23290073
esv2729756 CNV deletion 23290073
esv2729757 CNV deletion 23290073
esv2729758 CNV deletion 23290073
esv2729759 CNV deletion 23290073
esv2729760 CNV deletion 23290073
esv2729761 CNV deletion 23290073
esv2729763 CNV deletion 23290073
esv2729764 CNV deletion 23290073
esv2729765 CNV deletion 23290073
esv275312 CNV loss 21479260
esv2763436 CNV gain 21179565
esv29160 CNV loss 19812545
esv3302627 CNV tandem duplication 20981092
esv3304757 CNV mobile element insertion 20981092
esv3363564 CNV duplication 20981092
esv3367018 CNV duplication 20981092
esv3376242 CNV insertion 20981092
esv3439743 CNV duplication 20981092
esv3565530 CNV deletion 23714750
esv3569977 CNV loss 25503493
esv3569978 CNV loss 25503493
esv3569982 CNV loss 25503493
esv3569983 CNV loss 25503493
esv3575816 CNV gain 25503493
esv3604011 CNV loss 21293372
esv3604012 CNV loss 21293372
esv3604023 CNV loss 21293372
esv3604024 CNV loss 21293372
esv3604025 CNV loss 21293372
esv3604026 CNV loss 21293372
esv3604027 CNV loss 21293372
esv3604029 CNV loss 21293372
esv3894125 CNV loss 25118596
esv3894127 CNV gain 25118596
esv3894128 CNV loss 25118596
esv4317 CNV loss 18987735
esv6986 CNV loss 19470904
esv7282 CNV loss 19470904
esv7810 OTHER inversion 19470904
esv7916 CNV gain 19470904
esv996577 CNV deletion 20482838
esv996886 CNV deletion 20482838
nsv1024658 CNV loss 25217958
nsv1072103 CNV deletion 25765185
nsv1073436 CNV deletion 25765185
nsv1073860 CNV deletion 25765185
nsv1074810 CNV deletion 25765185
nsv1112413 CNV deletion 24896259
nsv1116408 CNV insertion 24896259
nsv1117407 CNV tandem duplication 24896259
nsv1117408 CNV tandem duplication 24896259
nsv1123912 CNV deletion 24896259
nsv1123913 CNV deletion 24896259
nsv1131871 CNV deletion 24896259
nsv1133354 CNV tandem duplication 24896259
nsv1136968 CNV deletion 24896259
nsv1141815 CNV insertion 24896259
nsv1143309 CNV deletion 24896259
nsv1146177 CNV insertion 26484159
nsv327742 CNV insertion 16902084
nsv327919 CNV deletion 16902084
nsv328573 CNV deletion 16902084
nsv428462 CNV loss 18775914
nsv441939 CNV loss 18776908
nsv461976 CNV loss 19166990
nsv4715 CNV deletion 18451855
nsv475670 CNV novel sequence insertion 20440878
nsv477421 CNV novel sequence insertion 20440878
nsv483079 CNV gain 15286789
nsv513222 CNV loss 21212237
nsv515616 CNV loss 19592680
nsv518038 CNV gain 19592680
nsv519562 CNV loss 19592680
nsv521357 CNV loss 19592680
nsv522498 CNV loss 19592680
nsv523245 CNV loss 19592680
nsv524275 CNV loss 19592680
nsv525891 CNV loss 19592680
nsv528520 CNV loss 19592680
nsv597144 CNV loss 21841781
nsv597145 CNV loss 21841781
nsv597149 CNV gain 21841781
nsv597152 CNV loss 21841781
nsv597153 CNV gain 21841781
nsv597154 CNV loss 21841781
nsv818314 CNV loss 17921354
nsv818315 CNV loss 17921354
nsv819140 CNV gain 19587683
nsv823001 CNV loss 20364138
nsv823002 CNV gain 20364138
nsv830202 CNV gain 17160897
nsv830205 CNV gain 17160897
nsv950648 CNV deletion 24416366
nsv956465 CNV deletion 24416366

Variation tolerance for CTNND2 Gene

Residual Variation Intolerance Score: 0.861% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTNND2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNND2 Gene

Disorders for CTNND2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CTNND2 Gene - From: HGMD, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
benign adult familial myoclonic epilepsy
  • adcme
cri-du-chat syndrome
  • cat cry syndrome
pervasive developmental disorder
  • pervasive development disorder
  • autistic disorder
  • near vision
- elite association - COSMIC cancer census association via MalaCards


  • Note=Defects in CTNND2, including deleterious missense and copy number variants (CNVs) are involved in autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269 PubMed:25807484}.

Additional Disease Information for CTNND2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CTNND2: view

No data available for Genatlas for CTNND2 Gene

Publications for CTNND2 Gene

  1. Presenilin 1 interaction in the brain with a novel member of the Armadillo family. (PMID: 9223106) Zhou J … Kosik KS (Neuroreport 1997) 2 3 4 22 58
  2. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. (PMID: 9342840) Paffenholz R … Franke WW (Differentiation; research in biological diversity 1997) 2 3 4 22 58
  3. GSK-3 phosphorylates delta-catenin and negatively regulates its stability via ubiquitination/proteosome-mediated proteolysis. (PMID: 19706605) Oh M … Kim K (The Journal of biological chemistry 2009) 3 4 22 58
  4. Isolation of human delta-catenin and its binding specificity with presenilin 1. (PMID: 10208590) Tanahashi H … Tabira T (Neuroreport 1999) 3 4 22 58
  5. Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin. (PMID: 10037471) Levesque G … St George-Hyslop P (Journal of neurochemistry 1999) 3 4 22 58

Products for CTNND2 Gene

Sources for CTNND2 Gene

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