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FLASH GENE
Symbol CELSR2 contributors: mct/shn/pgu - updated : 19-09-2010
HGNC name cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)
HGNC id 3231
Location 1p13.3      Physical location : 109.792.640 - 109.818.377
Synonym name
  • cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog
  • EGF-like protein 2
  • EGF-like-domain, multiple 2
  • cadherin EGF LAG seven-pass G-type receptor 2
  • cadherin family member 10
  • epidermal growth factor-like protein 2
  • flamingo homolog 3
  • multiple epidermal growth factor-like domains protein 3
    • Synonym symbol(s) MEGF3, KIAA0279, EGFL2, CDHF10, FLJ34118, FLJ42737, FLJ45143, FLJ45845, Flamingo1
    DNA
    TYPE functioning gene
    STRUCTURE 25.74 kb     34 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D1S2778 - D1S2792 - CELSR2 - D1S2651 - D1S221 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 - 10540 - 2923 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Reproductivefemale systemuterus   
     female systembreast   
     male systemtestis  highly
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine cadherin motifs
  • six EGF-like motifs
  • two laminin G domains (LamG)
  • an hormone binding domain (HRM)
  • a laminin EGF-like domain
  • seven transmembrane segments
  • a C terminal protein-rich sequence
    • HOMOLOGY
    interspecies ortholog to celsr2, Danio rerio
    ortholog to Celsr2, Rattus norvegicus
    ortholog to Celsr2, Mus musculus
    homolog to LOC457086, Pan troglodytes
    intraspecies homolog to EGFL1
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
  • LN-TM7 subfamily
  • flamingo subfamily
  • part of the cadherin superfamily
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • neuronal cell-cell interaction
  • potential role in cholesterol metabolism and coronary risk
  • control ability of facial branchiomotor neurons (FBM neurons) to migrate
  • controls with Celsr3 the development and the function of ependymal cilia in the epithelial lining of cerebral ventricles
  • a key regulator of ciliogenesis in the ependyma
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Knocking down rat Celsr2 results in prominent simplification of dendritic arbors of cortical pyramidal neurons and Purkinje neurons
  • Celsr2 deficient mice fail to develop the ependymal cilia in the cerebral ventricles leading to defective cerebrospinal fluid dynamics and hydrocephalus
  • Celsr2/Celsr3 double mutant mice display markedly impairment of ependyma and ciliogenesis leading to lethal hydrocephalus