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FLASH GENE
Symbol RIPPLY2 contributors: mct - updated : 10-10-2016
HGNC name ripply2 homolog (zebrafish)
HGNC id 20988
Corresponding disease
SCDO6 Spondylocostal dysostosis 6
Location 6q14.2      Physical location : 84.562.984 - 84.567.232
Synonym name
  • chromosome 6 open reading frame 59
  • protein ripply2
    • Synonym symbol(s) FLJ23112, C6orf59
    DNA
    TYPE functioning gene
    STRUCTURE 4.25 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 674 - 128 - 2010 20346937
    4 - 1206 - 151 - 2010 20346937
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a WRPW motif
    • HOMOLOGY
    Homologene
    FAMILY
  • ripply family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • putative transcriptional co-repressor
  • is involved in somite segmentation and establishment of rostrocaudal polarity
  • functioning as a segment boundary determination gene during mammalian embryogenesis
  • RIPPLY1, RIPPLY2 are direct regulators of the TBX6 protein level for the establishment of intersomitic boundaries
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RIPPLY2-MESP2 negative-feedback loop is essential for the periodic generation of the rostro-caudal polarity within a somite
  • RIPPLY2, a target of MESP2, is proposed to be involved in this down-regulation because RIPPLY2 deficiency causes an anterior expansion of the TBX6 domain, resembling the MESP2-null phenotype
  • RIPPLY2 represses TBX6 in a MESP2-independent manner, which contributes to the accurate segmental border formation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCDO6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS