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FLASH GENE
Symbol RSPO4 contributors: mct/npt/pgu - updated : 06-10-2009
HGNC name R-spondin family, member 4
HGNC id 16175
Corresponding disease
ANYC anonychia
Location 20p13      Physical location : 939.097 - 982.907
Synonym name
  • chromosome 20 open reading frame 182
  • roof plate-specific spondin-4
  • Synonym symbol(s) CRISTIN4, C20orf182, FLJ16018
    EC.number 2.8.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 43.81 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2722 - 234 - 2006 16357527
    4 - 2539 - 172 - 2006 16357527
    able to induce proliferation of intestinal epithelium
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve    
    Reproductivemale systemtestis   
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text nail
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a FU (furin-like) repeat required for activation and stabilization of beta-catenin
  • a TSP type-1 domain,encoded by exon 4 display significant similarity among protein family members
  • C-terminal basic region encoded by exon 5 is of varying length and scores as a nuclear localization signal
  • HOMOLOGY
    Homologene
    FAMILY
  • R-spondin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation
  • acting both in the canonical Wnt/beta-catenin-dependent pathway, possibly via a direct interaction with Wnt
  • proteins, and in a Wnt-independent beta catenin pathway through a receptor
  • play a major role in activating the Wnt/-catenin signaling pathway
  • having essential roles in vertebrate development and its ligand-type activities overlap substantially with those of the canonical Wnt ligands in that both Rspo and canonical Wnt signaling result in the activation of beta-catenin
  • potentiate Wnt/beta-catenin signaling, an important pathway in embryonic development that is constitutively active in many cancers
  • modulate the Wnt pathway by a common mechanism and coexpression with specific Wnt ligands and DKK1 may determine their biological specificity
  • RSPO1, RSPO2, RSPO3, RSPO4 can stimulate the proliferation of intestinal crypt stem cells, through enhancement of Wnt/CTNNB signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    Wnt/-catenin signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding heparin
  • in nail development, first steps require interaction with WNT7A, Noggin, BMP4 (bone morphogenetic protein 4 and LMX1B
  • potentiate Wnt/CTNNB signaling by actually functioning as ligands of LGR4 and LGR5
  • each of the four R-spondins, secreted Wnt pathway agonists, can bind to LGR4, LGR5 and LGR6 (Pubmed 21727895)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ANYC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS