Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CTNND2 Gene

Aliases for CTNND2 Gene

  • Catenin Delta 2 2 3 5
  • Catenin (Cadherin-Associated Protein), Delta 2 (Neural Plakophilin-Related Arm-Repeat Protein) 2 3
  • Neurojungin 3 4
  • NPRAP 3 4
  • GT24 3 4
  • Catenin (Cadherin-Associated Protein), Delta 2 2
  • Neural Plakophilin-Related Arm-Repeat Protein 2
  • Neural Plakophilin-Related ARM-Repeat Protein 4
  • T-Cell Delta-Catenin 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 Cri-Du-Chat Syndrome and Enophthalmos. GO annotations related to this gene include binding. An important paralog of this gene is CTNND1.

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.

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

Genomics for CTNND2 Gene

Regulatory Elements for CTNND2 Gene

Enhancers for CTNND2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CTNND2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTNND2 Gene

Chromosome:
5
Start:
10,971,840 bp from pter
End:
11,904,043 bp from pter
Size:
932,204 bases
Orientation:
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:
    Q9UQB3-CTND2_HUMAN
    Recommended name:
    Catenin delta-2
    Protein Accession:
    Q9UQB3
    Secondary Accessions:
    • B0FTZ7
    • O00379
    • O15390
    • O43206
    • O43840
    • Q13589
    • Q9UM66
    • Q9UPM3

    Protein attributes for CTNND2 Gene

    Size:
    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).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNND2 Gene

Proteomics data for CTNND2 Gene at MOPED

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

Protein Domains for CTNND2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQB3

UniProtKB/Swiss-Prot:

CTND2_HUMAN :
  • Belongs to the beta-catenin family.
  • Contains 9 ARM repeats.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 9 ARM repeats.
genes like me logo Genes that share domains with CTNND2: view

Function for CTNND2 Gene

Molecular function for CTNND2 Gene

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
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.

Gene Ontology (GO) - Molecular Function for CTNND2 Gene

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

Phenotypes for CTNND2 Gene

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

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

COMPARTMENTS
Jensen Localization Image for CTNND2 Gene COMPARTMENTS Subcellular localization image for CTNND2 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for CTNND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9342840
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with CTNND2: view

Pathways & Interactions for CTNND2 Gene

SuperPathways for CTNND2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CTNND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007165 signal transduction TAS 9223106
GO:0016055 Wnt signaling pathway IEA --
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0050808 synapse organization IMP 25807484
genes like me logo Genes that share ontologies with CTNND2: view

No data available for Pathways by source and 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

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

Unigene Clusters for CTNND2 Gene

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

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
SP1:
SP2:
SP3:

Relevant External Links for CTNND2 Gene

GeneLoc Exon Structure for
CTNND2
ECgene alternative splicing isoforms for
CTNND2

Expression for CTNND2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for CTNND2 Gene



SOURCE GeneReport for Unigene cluster for CTNND2 Gene Hs.314543

mRNA Expression by UniProt/SwissProt for CTNND2 Gene

Q9UQB3-CTND2_HUMAN
Tissue specificity: Expressed in brain; highest expression is observed in fetal brain (PubMed:25807484).
genes like me logo Genes that share expression patterns with CTNND2: view

Protein tissue co-expression partners for CTNND2 Gene

- Elite partner

Primer Products

Orthologs for CTNND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNND2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CTNND2 35
  • 92.54 (n)
  • 97.55 (a)
CTNND2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNND2 35
  • 92.64 (n)
  • 96.7 (a)
CTNND2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctnnd2 35
  • 91.51 (n)
  • 96.56 (a)
Ctnnd2 16
Ctnnd2 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CTNND2 35
  • 99.56 (n)
  • 99.84 (a)
CTNND2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctnnd2 35
  • 90.89 (n)
  • 96.77 (a)
oppossum
(Monodelphis domestica)
Mammalia CTNND2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTNND2 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTNND2 35
  • 81.29 (n)
  • 91.23 (a)
CTNND2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTNND2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnd2 35
  • 76.54 (n)
  • 88.08 (a)
zebrafish
(Danio rerio)
Actinopterygii ctnnd2a 35
  • 74.01 (n)
  • 80.76 (a)
ctnnd2a 36
  • 78 (a)
OneToMany
ctnnd2b 36
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 37
  • 50 (a)
p120ctn 35
  • 51.64 (n)
  • 53.07 (a)
p120ctn 36
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011273 35
  • 57.95 (n)
  • 56.98 (a)
worm
(Caenorhabditis elegans)
Secernentea jac-1 37
  • 39 (a)
jac-1 36
  • 24 (a)
OneToMany
Species with no ortholog for CTNND2:
  • 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

ENSEMBL:
Gene Tree for CTNND2 (if available)
TreeFam:
Gene Tree for CTNND2 (if available)

Paralogs for CTNND2 Gene

Paralogs for CTNND2 Gene

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 Sequence Context AA Info Type
VAR_036162 A colorectal cancer sample
VAR_062270 -
rs61750706 - 11,346,556(-) ATGCC(A/G/T)CCGCG nc-transcript-variant, reference, missense
rs61754599 - 11,110,893(-) GCTGG(C/G)GCAAG nc-transcript-variant, reference, missense
VAR_073387 -

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

Variant ID Type Subtype PubMed ID
nsv880520 CNV Gain 21882294
nsv518038 CNV Gain 19592680
nsv830202 CNV Gain 17160897
esv2729748 CNV Deletion 23290073
esv7282 CNV Loss 19470904
esv2729749 CNV Deletion 23290073
esv2729750 CNV Deletion 23290073
esv1539730 CNV Insertion 17803354
nsv819140 CNV Gain 19587683
esv2668679 CNV Deletion 23128226
nsv818314 CNV Loss 17921354
nsv441939 CNV CNV 18776908
nsv823001 CNV Loss 20364138
nsv327919 CNV Loss 16902084
nsv328573 CNV Loss 16902084
esv2548561 CNV Insertion 19546169
esv27150 CNV Gain 19812545
esv275312 CNV Loss 21479260
esv269035 CNV Insertion 20981092
dgv5936n71 CNV Loss 21882294
nsv521357 CNV Loss 19592680
nsv461976 CNV Loss 19166990
nsv880276 CNV Loss 21882294
nsv522498 CNV Loss 19592680
nsv515616 CNV Loss 19592680
nsv519562 CNV Loss 19592680
esv2729752 CNV Deletion 23290073
esv259601 OTHER Complex 20981092
nsv327742 CNV Insertion 16902084
esv25983 CNV Loss 19812545
esv2729753 CNV Deletion 23290073
esv2665180 CNV Deletion 23128226
esv1474334 CNV Insertion 17803354
esv2453497 CNV Deletion 19546169
esv2161141 CNV Deletion 18987734
esv996886 CNV Deletion 20482838
esv4317 CNV Deletion 18987735
esv996577 CNV Deletion 20482838
esv6986 CNV Loss 19470904
esv2729754 CNV Deletion 23290073
esv1023282 CNV Deletion 17803354
nsv830205 CNV Gain 17160897
nsv881624 CNV Loss 21882294
esv7916 CNV Gain 19470904
esv29160 CNV Loss 19812545
esv274133 CNV Insertion 20981092
esv270908 CNV Insertion 20981092
nsv880622 CNV Loss 21882294
nsv528520 CNV Loss 19592680
esv2665217 CNV Deletion 23128226
nsv428462 CNV Loss 18775914
esv2729755 CNV Deletion 23290073
nsv523245 CNV Loss 19592680
nsv818315 CNV Loss 17921354
nsv4715 CNV Loss 18451855
nsv524275 CNV Loss 19592680
nsv525891 CNV Loss 19592680
esv2729756 CNV Deletion 23290073
esv7810 OTHER Inversion 19470904
esv2660889 CNV Deletion 23128226
nsv513222 CNV Loss 21212237
esv2729757 CNV Deletion 23290073
esv1034832 CNV Deletion 17803354
esv2729758 CNV Deletion 23290073
esv2729759 CNV Deletion 23290073
esv2729760 CNV Deletion 23290073
esv1436814 CNV Insertion 17803354
esv2560131 CNV Deletion 19546169
esv2729761 CNV Deletion 23290073
esv2729763 CNV Deletion 23290073
esv1056345 CNV Deletion 17803354
esv2729764 CNV Deletion 23290073
esv2729765 CNV Deletion 23290073
nsv823002 CNV Gain 20364138
esv22991 CNV Loss 19812545

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)

Relevant External Links for CTNND2 Gene

Human Gene Mutation Database (HGMD)
CTNND2

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

Disorders for CTNND2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CTNND2 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • 5p deletion syndrome
enophthalmos
degenerative myopia
  • degenerative progressive high myopia
pervasive developmental disorder
  • pervasive development disorder
chromosomal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTND2_HUMAN
  • 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}.

Relevant External Links for CTNND2

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

No data available for Genatlas for CTNND2 Gene

Publications for CTNND2 Gene

  1. Identification and localization of a neurally expressed member of the plakoglobin/armadillo multigene family. (PMID: 9342840) Paffenholz R. … Franke W.W. (Differentiation 1997) 2 3 4 23 67
  2. Presenilin 1 interaction in the brain with a novel member of the Armadillo family. (PMID: 9223106) Zhou J. … Kosik K.S. (NeuroReport 1997) 2 3 23
  3. Isoform- and dose-sensitive feedback interactions between paired box 6 gene and delta-catenin in cell differentiation and death. (PMID: 20074565) Zhang J. … Lu Q. (Exp. Cell Res. 2010) 3 23
  4. Delta-catenin affects the localization and stability of p120-catenin by competitively interacting with E-cadherin. (PMID: 20108168) Yang I. … Kim K. (Mol. Cells 2010) 3 23
  5. Increased nucleotide polymorphic changes in the 5'-untranslated region of delta-catenin (CTNND2) gene in prostate cancer. (PMID: 18978817) Wang T. … Lu Q. (Oncogene 2009) 3 23

Products for CTNND2 Gene

Sources for CTNND2 Gene

Content