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FLASH GENE
Symbol DIP2B contributors: - updated : 03-04-2006
HGNC name DIP2 disco-interacting protein 2 homolog B (Drosophila)
HGNC id 29284
Location 12q13.12      Physical location : 50.898.767 - 51.142.448
Synonym name KIAA1463 protein
Synonym symbol(s) KIAA1463, MGC104005
DNA
TYPE functioning gene
SPECIAL FEATURE
text FRA12A is a CGG-repeat expansion at the 5' end of the DIP2B
STRUCTURE 243.00 kb     38 Exon(s)
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
text structure FRA12A CGG repeat, located in the CpG island in the promoter region of DIP2B, is polymorphic in the general population
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Hearing/Equilibriumearinnercochlea highly
Nervousbrainforebraincerebral cortex highly
 brainforebraincerebral lobeparietal lobehighly
 brainforebraincerebral lobefrontal lobehighly
Respiratoryrespiratory tractlarynx  highly
Urinarykidney    
Visualeye   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three putative functional domains
  • one DMAP1-binding domain (location 14-131)
  • two AMP-binding domains (locations 370-822 and 1025-1495)
  • HOMOLOGY
    Homologene
    FAMILY DIP2 protein family
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may be having a role in providing positional cues for axon pathfinding and patterning
  • might therefore be involved in the methylation machinery
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein FRA12A-associated gene
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to mental retardation (to be confirmed)
    Variant & Polymorphism other FRA12A
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS