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FLASH GENE
Symbol CDH6 contributors: mct - updated : 30-01-2017
HGNC name cadherin 6, type 2, K-cadherin (fetal kidney)
HGNC id 1765
Location 5p13.3      Physical location : 31.193.795 - 31.325.237
Synonym name
  • cadherin, fetal kidney
  • kidney cadherin
    • Synonym symbol(s) KCAD, CAD6b, CAD, K-CAD
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 135.49 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 8571 - 790 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemoviduct  highly Homo sapiens
     male systemtestis  highly
    Urinarykidney   highly
    Visualeyeretina    Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet Homo sapiens
    Visualganglion cell Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text kidney
    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
  • a highly conserved cytoplasmic tail required for interactions
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Cdh6 (96.07 pc)
    homolog to murine Cdh6 (95.32 pc)
    Homologene
    FAMILY cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction,tight
    basic FUNCTION
  • transmembrane glycoprotein, calcium dependent component of adherens junction that may thus contribute to the sorting of heterogeneous cell types
  • induces BMP signaling and de-epithelialization during the epithelial mesenchymal transition of the neural crest
  • functions as an inhibitor of tubulogenesis, whereas CDH1 is required for lumen formation
  • promote mammalian CNS circuit development by ensuring that axons of specific cell types connect to their appropriate synaptic targets
  • has a functional role in platelet aggregation and thrombus formation
  • is a potential regulator of invasiveness in thyroid tumors
  • is proteolytically processed during epithelial-to-mesenchymal transitions of the cranial neural crest
  • involved in cell-cell or cell-extracellular matrix interactions
  • is required for accumulation of F-actin in apical neural crest cells (NCCs) tails during detachment
  • is likely an important determinant of where subcellular actomyosin forces are generated during EMT
  • is necessary for the generation of ISL1-positive dorsal interneurons, as well as the initiation of pre-migratory neural crest cell emigration
  • is removed from premigratory neural crest cells through cell surface internalization events that include clathrin-mediated endocytosis and macropinocytosis
  • is a type 2 cadherin, which drives EMT during embryonic development and it is aberrantly re-activated in cancer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • hemophilic,calcium dependent interactions
  • interacting by its C terminus with the cytoskeleton via beta-catenin
  • modulation of CDH6 is crucial for proper neural crest cell EMT
  • is expressed in the oviduct, but not the ovary, and is repressed by mutant TP53
    • cell & other
    REGULATION
    Other post-translational regulation of CDH6 protein levels by TSPAN18 that must be relieved by a FOXD3-dependent mechanism in order for cranial neural crest cells to migrate
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in lung cell carcinoma
    tumoral     --low  
    profoundly changes cellular architecture, alters the inter-cellular interaction modalities and attenuates EMT features in thyroid cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • CDH6 expression with further validations may aide in establishing markers that inform upon the cell of origin of high grade serous tumors
    • Therapy target
    ANIMAL & CELL MODELS