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FLASH GENE
Symbol MBD6 contributors: /mct - updated : 11-09-2013
HGNC name methyl-CpG binding domain protein 6
HGNC id 20445
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 4214 101 1003 - 2010 20700456
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   highly
Endocrinepancreas   highly
Nervousbraindiencephalonamygdala lowly
Reproductivemale systemtestis   
Respiratorylung   lowly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductiveoocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta, highly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a MBD domain
  • HOMOLOGY
    interspecies homolog to rattus LOC362892
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,heterochromosome
    text colocalize with heterochromatin (Laget 2010)
    basic FUNCTION
  • may have a role in transcriptional regulation
  • may contribute to the formation or function of heterochromatin
  • possible role in epigenetic reprogramming after fertilization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • MBD6 was detected as an POU5F1 regulatory gene
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorders
    Variant & Polymorphism other autistic patients carrying potentially detrimental alterations in MBD6
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS