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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
Location 12q13.3      Physical location : 57.916.658 - 57.923.931
Synonym name methyl-CpG-binding protein MBD6
Synonym symbol(s) KIAA1887
DNA
TYPE functioning gene
STRUCTURE 7.27 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
SHMT2 12q13.2 serine hydroxymethyltransferase 2 (mitochondrial) NXPH4 12q13.2 neurexophilin 4 LOC56901 12q13.2 NADH:ubiquinone oxidoreductase MLRQ subunit homolog MGC2793 12q13.2 hypothetical protein MGC2793 KIAA1002 12q13.2 Homo sapiens KIAA1002 protein (KIAA1002), mRNA. LOC338803 12q13.2 similar to RIKEN cDNA 1300003K24 INHBC 12q13.1 inhibin, beta C INHBE 12q13.2 inhibin, beta E GLI 12q13.3-q14.1 glioma-associated oncogene homolog (zinc finger protein) ARHGAP9 12q14 Rho GTPase activating protein 9 MARS 12q13.11-q14.3 methionine-tRNA synthetase DDIT3 12q13.1-q13.2 DNA-damage-inducible transcript 3 MBD6 12q13.2 methyl-CpG binding domain protein 6 DCTN2 12q13.2-q13.3 dynactin 2 (p50) KIF5A 12q13 kinesin family member 5A PIP5K2C 12q13.2 phosphatidylinositol-4-phosphate 5-kinase, type II, gamma FLJ34766 GEFT 12q13.2 RAC/CDC42 exchange factor SLC26A10 12q13 solute carrier family 26, member 10 GALGT 12q13.3 UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T) LOC390333 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein OS-9 12q13 amplified in osteosarcoma CENTG1 12q13.3 centaurin, gamma 1 SAS 12q13-q14 sarcoma amplified sequence CDK4 12q14 cyclin-dependent kinase 4 LOC92979 12q13.2 hypothetical protein BC009489 CYP27B1 12q13-q14 cytochrome P450, family 27, subfamily B, polypeptide 1 METTL1 12q13 methyltransferase-like 1 DKFZP586D0919 12q13.2 hepatocellularcarcinoma-associated antigen HCA557a TSFM 12q13-q14 Ts translation elongation factor, mitochondrial AVIL 12q13.13 advillin CTDSP2 12q13-q15 . CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2
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