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FLASH GENE
Symbol CDH7 contributors: - updated : 31-03-2007
HGNC name cadherin 7, type 2
HGNC id 1766
Corresponding disease
CHARGE CHARGE syndrome
DUP8Q12 chromosome 8q12 duplication, including CHD7
Location 18q22.1      Physical location : 63.417.487 - 63.548.174
Genatlas name BH-cadherin chicken cadherin 7-like
Synonym symbol(s) CDH7L1, CADH-7
DNA
TYPE functioning gene
STRUCTURE 130.00 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D18S1148 - CDH20 - D18S60 - PDB2 - D18S42 - D18S68 - D18S483 - CDH7 ,CDH19 - D18S828 - qter
Authors Kremmidiotis (98),Kools (00)
Physical map
SERPINB13 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13 SERPINB4 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4 SERPINB3 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3 SERPINB11 18q21.33 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11 SERPINB7 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7 SERPINB2 18q21.32-q21.33 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2 SERPINB10 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10 LOC284293 18q22.1 similar to Placental thrombin inhibitor (Cytoplasmic antiproteinase) (CAP) (Protease inhibitor 6) (PI-6) SERPINB8 18q21.3 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8 MGC39571 18q22.1 hypothetical protein MGC39571 CDH7 18q22.1 cadherin 7, type 2 CDH19 18q22-q23 cadherin 19, type 2 NCAG1 18q22.1 NCAG1
RNA
TRANSCRIPTS type messenger
text with two alternatively spliced isoforms
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 2828 - 785 - Moore
exon 1b
- splicing 2728 - 785 - Moore
exon 1a
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain    
Reproductivemale systemtestis   
 male systemprostate   
cell lineage
cell lines
  • the minor expressed in several cancer lines
  • fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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, putatively involved in synaptic adhesion
  • cell-cell or cell-extra-cellular matrix interactions
  • involved in axon outgrowth and guidance
  • 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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DUP8Q12 , CHARGE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in colorectal cancer with favourable prognostic factor for disease-free survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS