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FLASH GENE
Symbol CC2D1A contributors: mct/npt - updated : 17-09-2014
HGNC name coiled-coil and C2 domain containing 1A
HGNC id 30237
Corresponding disease
MRAR3 mental retardation, non-syndromic, 3
Location 19p13.13      Physical location : 14.016.955 - 14.041.693
Synonym name
  • putative NFkB activating protein
  • FRE under dual repression-binding protein 1
  • five repressor element under dual repression-binding protein 1
  • Akt kinase-interacting protein 1
  • Synonym symbol(s) FREUD-1, FLJ20241, FLJ41160, MRT3, FREUD1/AKI1
    DNA
    TYPE functioning gene
    STRUCTURE 24.74 kb     29 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 3644 104 951 more abundant in human cells, especially in the nuclear fraction Basel-Vanagaite, Nakamura (2008)
  • also called Freud-1l
  • major isoform that regulates the HTR1A gene (Rogaeva 2007)
  • - - - - 388 - Basel-Vanagaite, Rogaeva (2007)
  • also called Freud-1s
  • lack exons 14 and 16
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Lymphoid/Immunethymus   highly
    Reproductivemale systemprostate  highly
    Skin/Tegumentskin   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-Terminal containing four DM14 domains
  • a VWFC domain
  • a predicted helix-loop-helix DNA binding domain
  • C-terminal containing C2 domain, a protein kinase C conserved region 2 (C2)/calcium-dependent lipid-binding calcium/phospholipid binding domain required for the repression
  • HOMOLOGY
    interspecies ortholog to murine Cc2d1a
    Homologene
    FAMILY
  • fibrillar collagen family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleolus
    text
  • nuclear localization enriched upon inhibition of chromosome region maintenance 1/exportin 1-dependent nuclear export, indicating a dynamic regulation of its nuclear localization (Rogaeva 2007)
  • localizes to centrosomes and regulates centriole cohesion
  • translocates to the plasma membrane in response to cAMP signaling, facilitated by the binding of membrane phosphatidic acid (PA) with its C2 domain thus allowing maximal activation
  • basic FUNCTION
  • putative signal transducer, involved in positive regulation of I-kappaB kinase/NF-kappaB cascade
  • playing an important role in cognitive development
  • induced formation of a PDK1/Akt complex and regulated Akt activation in a concentration-dependent biphasic manner (Nakamura 2008)
  • novel receptor-selective scaffold protein for the PDK1/Akt pathway and present a new activation mechanism of Akt (Nakamura 2008)
  • centrosome-associated CC2D1A and cohesin play pivotal roles in preventing premature cleavage in centriole cohesion
  • activates NF-kappaB through the canonical IKK pathway
  • likely performs essential function in controlling functional maturation of synapses
  • positive regulator of the cAMP pathway in neurons
  • important for neuronal differentiation and brain development
  • might act as a negative regulator of CHMP4B function
  • regulates multiple intracellular signaling pathways
  • critical role of CC2D1A in homeostatic control of intracellular signaling
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • important regulator of the cAMP/PRKACa signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation
  • a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • regulates the protein kinase A (PRKACA) activity
  • is a novel regulator of ESCRT-III CHMP4B function
  • is a novel regulator of PDE4D (interacts directly with PDE4D regulating its activity and thereby fine-tuning cAMP-dependent downstream signaling)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRAR3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    absence of CC2D1A in neurons may be causing a developmental problem in the brain; occuring late in gestation, it would likely lead to the gross neural defects and abnormal brain development, likely leading to deficits in mental function
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    mental retardationother 
    CC2D1A and/or PDE4D may be promising targets for therapeutic interventions in many disorders with impaired PDE4D function
    ANIMAL & CELL MODELS