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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
    Physical map
    LOC388659 1 similar to RIKEN cDNA C230093N12 FLJ30525 1p13.3 hypothetical protein FLJ30525 FLJ10330 1p13.3 hypothetical protein FLJ10330 FLJ35838 1p13.3 hypothetical protein FLJ35838 STXBP3 1p21-p13.3 syntaxin binding protein 3 MGC26989 1p13.3 hypothetical protein MGC26989 LGN MCLC 1p13.2 hypothetical protein MGC26989 KIAA0893 1p13.3 hypothetical protein MGC26989 NDUFB3P1 1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 AD-020 1p13.3 protein x 013 LOC391065 1 similar to poly(rC) binding protein 1; heterogenous nuclear ribonucleoprotein X; poly(rC)-binding protein 1; alpha-CP1; nucleic acid binding protein sub 2.3; heterogenous nuclear ribonucleoprotein E1 LOC127003 1p13.3 similar to CG5435-PA KIAA1324 1p13.2 maba1 SARS 1p13 seryl-tRNA synthetase CELSR2 1p21.16p13.3 cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) DDA3 1p13.2 differential display and activated by p53 LOC343263 1p13.2 similar to Myosin-binding protein H (MyBP-H) (H-protein) SORT1 1p21.3-p13.1 Sortilin 1 PSMA5 1p13 proteasome (prosome, macropain) subunit, alpha type, 5 LOC388660 1 similar to mitsugumin29 LOC284612 1p13.2 hypothetical protein LOC284612 MGC46534 1p13.2 hypothetical protein MGC46534 FLJ39035 1p13.2 hypothetical protein FLJ39035 KIAA1163 1p13.2 amphoterin-induced gene GPR61 1p13.1 G protein-coupled receptor 61 GNAI3 1p13 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 GNAT2 1p13 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 AMPD2 1p21-p13 adenosine monophosphate deaminase 2 (isoform L) GSTM4 1p13.3 glutathione S-transferase M4 GSTM2 1p13.3 glutathione S-transferase M2 (muscle) GSTM1 1p13.3 glutathione S-transferase M1 GSTM5 1p13.3 glutathione S-transferase M5 GSTM3 1p13.3 glutathione S-transferase M3 (brain) EPS8L3 1p13.2-p11 EPS8-like 3
    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