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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
    Physical map
    CDC25A 3p21.3 cell division cycle 25A CAMP 3p21.3 cathelicidin antimicrobial peptide SZF1 3p21 KRAB-zinc finger protein SZF1-1 MRPS18AP1 3p21.31 mitochondrial ribosomal protein S18A pseudogene 1 NME6 3p21.3 non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) LOC391537 3 similar to hypothetical protein PLXNB1 3p21.31 plexin B1 FLJ12436 3p21.31 hypothetical protein FLJ12436 HSPC016 3p21.31 hypothetical protein HSPC016 TREX1 3p21.3-p21.2 three prime repair exonuclease 1 SCOTIN 3p21.31 scotin PFKFB4 3p22-p21 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 SRP 3p21.3 stresscopin-related peptide COL7A1 3p21.3 collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) UQCRC1 3p21.2 ubiquinol-cytochrome c reductase core protein I LOC344651 3p21.31 hypothetical LOC344651 SLC26A6 3p21 solute carrier family 26, member 6 CELSR3 3p24.1-p21.2 cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) AF3P21 3p21 cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) IHPK2 3p21.31 inositol hexaphosphate kinase 2 PRKAR2A 3p21.3-p21.2 protein kinase, cAMP-dependent, regulatory, type II, alpha SLC25A20 3p21.31 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 ARIH2 3p21.2-p21.3 ariadne homolog 2 (Drosophila) PH-4 3p21.31 hypoxia-inducible factor prolyl 4-hydroxylase WDR6 15q21 WD repeat domain 6 FLJ10496 3p21.31 hypothetical protein FLJ10496 DKFZP564J0123 3p21.31 nuclear protein E3-3 IMPDH2 3p21.2 IMP (inosine monophosphate) dehydrogenase 2 FLJ20259 3p21.31 FLJ20259 protein
    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