Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CELSR3 contributors: mct/shn/pgu - updated : 19-09-2010
HGNC name cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila)
HGNC id 3230
Location 3p21.31      Physical location : 48.673.901 - 48.700.348
Synonym name
  • cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog
  • EGF-like protein 1
  • EGF-like-domain, multiple 1
  • anchor protein
  • cadherin EGF LAG seven-pass G-type receptor 3
  • cadherin family member 11
  • epidermal growth factor-like protein 1
  • flamingo homolog 1
  • multiple EGF-like domains protein 2
  • multiple epidermal growth factor-like domains protein 2
    • Synonym symbol(s) MEGF2, EGFL1, FMI1, CDHF11, HFMI1, RESDA1, KIAA0812
    DNA
    TYPE functioning gene
    STRUCTURE 26.45 kb     35 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D3S3560 - D3S1581 - CELSR3 - D3S2384 - D3S3629 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 11974 - 3312 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Reproductivefemale systembreast   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine cadherin motifs (CA)
  • seven transmembrane segments (7TM)
  • six EGF-like motifs
  • five Calsium-binding EGF-like domains
  • two laminin G domains (LamG)
  • a Laminin EGF-like domain
  • an hormone binding domain (HRM)
  • a GPCR proteolitic site (GPS)
    • HOMOLOGY
    interspecies ortholog to celsr3, danio rerio
    ortholog to Celsr3, Rattus norvegicus
    ortholog to Celsr3, Mus musculus
    ortholog to CELSR3, Pan troglodytes
    intraspecies homolog to EGFL2
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
  • LN-TM7 subfamily
  • Flamingo subfamily
  • part of the cadherin superfamily
    • CATEGORY unknown/unspecified , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • receptor that may have an important role in cell/cell signaling during nervous system formation
  • involved in contact-mediated communication
  • crucial in axonal tract development
  • mediates interactions between axons and guidepost cells govern axonal tract formation in mammals
  • control ability of facial branchiomotor neurons (FBM neurons) to migrate
  • controls with Celsr2 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
  • mice with inactivated Celsr3 gene display selective anomalies of several major axonal fascicles implicating protocadherins in axonal development
  • null mutation of Celsr3 in mice leads to defective anterior commissure and internal capsule of the axonal tracts
  • Celsr2/Celsr3 double mutant mice display markedly impairment of ependyma and ciliogenesis leading to lethal hydrocephalus