Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CCDC115 contributors: mct - updated : 24-02-2016
HGNC name coiled-coil domain containing 115
HGNC id 28178
Corresponding disease
CDG2O congenital disorder of glycosylation II O
Location 2q21.1      Physical location : 131.095.815 - 131.099.922
Synonym name
  • coiled coil protein-1
    • Synonym symbol(s) ccp1, FLJ30131, MGC12981
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 4.11 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2000 19.7 180 - 2010 21118521
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiensAdult
     brain     Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two predicted coiled-coil domains
    • HOMOLOGY
    interspecies homolog to to yeast V-ATPase assembly factor Vma22p
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • downstream gene of fibroblast growth factor 2 (FGF2) highly expressed in embryonic and adult brain
  • regulates cell number by promoting proliferation and suppressing cell death
  • role for CCDC115 in Golgi trafficking
  • has likely a role in protein cargo sorting or trafficking of alkaline phosphatase in addition to a possible role in V-ATPase assembly
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may be a downstream effecter of FGF2, promoting cell proliferation and protecting from apoptosis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDG2O
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS