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FLASH GENE
Symbol CTNND2 contributors: mct/shn - updated : 12-06-2012
HGNC name catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
HGNC id 2516
Corresponding disease
CDCS Cri-du-Chat syndrome
Location 5p15.2      Physical location : 10.971.951 - 11.904.110
Synonym name
  • catenin (cadherin-associated protein), delta 2
  • T-cell delta-catenin
  • catenin delta-2
  • neurojungin
  • Synonym symbol(s) NIBA2, NPRAP, GT24
    DNA
    TYPE functioning gene
    STRUCTURE 932.16 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif
    MAPPING cloned Y linked   status confirmed
    Map tel - D5S432 - D5S478 - CTNND2 - D5S2081 - D5S1991 - cen
    Physical map
    MGC5297 5p15.3-p15.2 hypothetical protein MGC5297 MTRR 5p15.31 5-methyltetrahydrofolate-homocysteine methyltransferase reductase SEMA5A 5p15-pter sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A TAS2R1 5p15.2 taste receptor, type 2, member 1 LOC389271 5 LOC389271 LOC134145 5p15.31 hypothetical protein LOC134145 CCT5 5p15.2 chaperonin containing TCP1, subunit 5 (epsilon) LOC134147 5p15.31 hypothetical protein BC001573 TEB4 5p15.2 similar to S. cerevisiae SSM4 ASP 5p15.31 AKAP-associated sperm protein LOC389272 5 LOC389272 LOC389273 5 hypothetical gene supported by AK130861 LOC391736 5 similar to S-antigen precursor - malaria parasite (Plasmodium falciparum) (strain V1/Vietnam) LOC345711 5p15.31 similar to RIKEN cDNA 0610012A05 LOC391737 5 similar to Intersectin 1 (SH3 domain-containing protein 1A) (SH3P17) DAP 5p12.2 death-associated protein CTNND2 5p15.3 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) LOC389274 5 LOC389274 LOC285694 5p15.2 hypothetical LOC285694 LOC391738 5 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) DNAH5 5p15-p14 dynein, axonemal, heavy polypeptide 5 TRIO 5p15.2 triple functional domain (PTPRF interacting)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 5440 160 1225 neural and neuroendocrine tissues Paffenholz et al 1997
    21 - 5168 150 1134 neural and neuroendocrine tissues Paffenholz et al 1997
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Nervousbrain   highly Homo sapiens
     nerve   highly
    cell lineage
    cell lines prostate cancer cell lines : CWR22Rv-1 and PC-3
    fluid/secretion
    at STAGE
    Text fetal brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal head domain including a potential coiled-coil forming alpha-helix segment a central domain
  • a central domain with ten repeats of the Armadillo motif
  • a C terminal tail domain
  • HOMOLOGY
    interspecies homolog to Drosophila Armadillo segment polarity gene
    ortholog to ctnnd2, danio rerio
    ortholog to CTNND2, Pan troglodytes
    ortholog to Ctnnd2, Rattus norvegicus
    ortholog to Ctnnd2, Mus musculus
    Homologene
    FAMILY
  • p120(ctn)/plakophilin subfamily of Armadillo-like proteins
  • b-catenin superfamily
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • may be iplicated in neuronal cell adhesion, tissue morphogenesis and integrity by regulating adhesion molecules
  • involved in the molecular organization of synaptic junctions through interaction with the synaptic scaffolding molecule
  • contributes to setting a balance between neurite elongation and branching in the elaboration of a complex dendritic tree
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA regulate synapse-specific transcription of RAPSYN
    small molecule
    protein
  • presenilin 1, PS1 and presenilin 2, PS2 (
  • Synaptic scaffolding molecule, S-SCAM (
  • E-cadherin, beta-catenin, and protein-interacting PSD-95/Dlg-A/ZO-1 (PDZ) protein, PAPIN (
  • Densin-180 (
  • sphingosine kinase 1, SPHK1 (
  • cell & other
    REGULATION
    activated by PAX6
    ASSOCIATED DISORDERS
    corresponding disease(s) CDCS
    Susceptibility
  • to schizophrenia
  • to high myopia (
  • Variant & Polymorphism other
  • disrupted by rare CNVs in schizophrenia patients
  • increase of nucleotide changes in the 50-untranslated region of delta-catenin gene reslting in overexpression and higher enzyme activity of delta-ceteninin human prostate cancer
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS