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FLASH GENE
Symbol CDH3 contributors: mct/pgu - updated : 25-03-2011
HGNC name cadherin 3, type 1, P-cadherin (placental)
HGNC id 1762
Corresponding disease
EEM ectodermal dysplasia, ectrodactyly, macular dystrophy
HJMD hypotrichosis congenital with juvenile macular dystrophy
Location 16q22.1      Physical location : 68.678.150 - 68.732.957
Synonym name
  • calcium-dependent adhesion protein placental
  • placental cadherin
  • Synonym symbol(s) PCADL1, CDHP, PCAD, CAD3, A15C2, HJMD
    DNA
    TYPE like-sequence
    SPECIAL FEATURE component of a cluster
    text six-cadherin cluster
    STRUCTURE 54.81 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see TSG16H
    Physical map
    LCAT 16q22.1 lecithin-cholesterol acyltransferase SLC12A4 16q22.1 solute carrier family 12 (potassium/chloride transporters), member 4 DPEP3 16q22.1 dipeptidase 3 DPEP2 16q22.1 dipeptidase 2 LOC339065 16q22.1 similar to putative membrane-bound dipeptidase-2 DDX28 16q22.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 FLJ20399 16q22.1 hypothetical protein FLJ20399 NFATC3 16q22.1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 FLJ21918 16q22.1 hypothetical protein FLJ21918 LYPLA3 16q22.1 lysophospholipase 3 (lysosomal phospholipase A2) SLC7A6 16q22.1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 FLJ13291 16q22.1 hypothetical protein FLJ13291 FLJ10640 16q22.1 hypothetical protein FLJ10640 FLJ22593 16q22.1 hypothetical protein FLJ22593 SMPD3 16q22.2 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) ZFP90 16q22.1 zinc finger protein 90 homolog (mouse) CDH3 16q22.1 cadherin 3, type 1, P-cadherin (placental) CDH1 16q22.1 cadherin 1, type 1, E-cadherin (epithelial) FLJ12331 16q22.1 hypothetical protein FLJ12331 HAS3 16q22.1 hyaluronan synthase 3 FLJ20400 16q22.1 CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae) CIRH1A 16q22.1 cirrhosis, autosomal recessive 1A (cirhin) SNTB2 16q22-q23 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 4276 - 829 - 1998 9615235
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthgingiva   
    Endocrinethyroid    
    Skin/Tegumentskin appendageshairfollicle  
    Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    Epithelialbarrier liningepidermis  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Skin/Tegumenthair follicle cell
    Skin/Tegumentkeratinocyte
    Skin/Tegumentmelanocyte
    Urinarypodocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text
  • placenta
  • predominant expression not only in the hair follicle placode, but also at the apical ectodermal ridge (AER) of the limb bud
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal hydrophobic domain
  • five extracellular cadherin repeats with four cysteines in the most proximal (MPED)
  • a transmembrane segment (TM)
  • a highly conserved cytoplasmic tail required for interactions
  • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to cdh1
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction,tight
    text type 1 membrane protein
    basic FUNCTION
  • calcium-dependent cell-cell adhesion glycoprotein involved in cell-cell or cell-ECM interactions,critical for correct location of cells and epithelial tissue integrity
  • playing an important role in shaping the hand
  • member of cadherin family that forms the transmembrane core of adherens junctions
  • playing a crucial role in hair follicle morphogenesis as well as the apical ectodermal ridge during limb bud outgrowth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • constituent of transmembrane glycoprotein component of adherens junction
  • forming a complex with the catenin
  • component of the slit diaphragm apparatus of the glomerular podocyte
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • hemophilic,calcium dependent interactions
  • interacting by its C terminus with the cytoskeleton via beta-catenin
  • beta-Catenin regulates its expression in mammary basal epithelial cells
  • transcriptional target gene of TP63, with a crucial role in hair follicle morphogenesis as well as the AER (apical ectodermal ridge) during limb bud outgrowth
  • cell & other
    REGULATION
    repressed by ZEB2, a transcriptional repressor of CDH1 and CDH3 gene expression
    ASSOCIATED DISORDERS
    corresponding disease(s) HJMD , EEM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    loss of a complex formed with the beta-catenin in poorly differentiated esophageal squamous carcinoma
    tumoral     --over  
    malignant melanoma
    tumoral     --over  
    in breast cancer cells with wild-type CDH1, promotes cell invasion, motility and migration
    tumoral     --over  
    by demethylation in advanced colorectal carcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinepancreas
    novel tumor-associated antigen useful for immunotherapy against a broad spectrum of cancers, including pancreatic cancer
    ANIMAL & CELL MODELS