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FLASH GENE
Symbol CDH4 contributors: - updated : 01-07-2006
HGNC name cadherin 4, type 1, R-cadherin (retinal)
HGNC id 1763
Location 20q13.3      Physical location : 59.827.558 - 60.512.299
Synonym name
  • retinal cadherin
  • Synonym symbol(s) CAD4, RCAD, FLJ22202, FLJ40547
    DNA
    TYPE functioning gene
    STRUCTURE 193.00 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure a CpG island located at the 5' of the first exon, which functions as a promoter element and is frequently affected by methylation in cancer
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC128629 20q13.33 similar to hypothetical protein LOC391260 20 similar to cadherin 4, type 1 preproprotein; cadherin 4, R-cadherin (retinal); R-cadherin; retinal cadherin CDH4 20q13.3 cadherin 4, type 1, R-cadherin (retinal) FLJ22202 20q13.33 hypothetical protein FLJ22202 TAF4 20q13.3 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa C20orf40 20q13.33 chromosome 20 open reading frame 40 PSMA7 20q133 proteasome (prosome, macropain) subunit, alpha type, 7 SS18L1 20q13.2-q13.3 synovial sarcoma translocation gene on chromosome 18-like 1 GTPBP5 20 GTP binding protein 5 (putative) HRH3 20q13.3 histamine receptor H3 OSBPL2 20q13.3 oxysterol binding protein-like 2 ADRM1 20q13.33 adhesion regulating molecule 1 LAMA5 20q13.2-q13.3 laminin, alpha 5 RPS21 20q13.3 ribosomal protein S21 C20orf150 20q13.33 chromosome 20 open reading frame 150 C20orf151 20q13.33 chromosome 20 open reading frame 151 GATA5 20q11.21-q11.22 GATA binding protein 5 RPL7P3 20q13.33 ribosomal protein L7 pseudogene 3 C20orf166 20q13.33 chromosome 20 open reading frame 166 FLJ30313 20q13.33 hypothetical protein FLJ30313
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrinethyroid   highly
    Nervousbrain    
    Reproductivefemale systemovary  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
    Homologene
    FAMILY cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
    CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    basic FUNCTION
  • transmembrane glycoprotein component of adherens junction, involved during brain segmentation and neuronal outgrowth
  • cell-cell or cell-ECM interactions
  • calcium dependent cell-cell adhesion
  • tumor suppressor gene in gastrointestinal tumors and can potentially be used as an early diagnostic marker for gastrointestinal tumorigenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • homophilic, calcium dependent interactions
  • interacting by its C terminus with the cytoskeleton via beta-catenin
  • interacting with PAX6 for establishing regional adhesive codes to guide pioneer axons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in colorectal and gastric carcinomas by hypermethylation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS