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FLASH GENE
Symbol MACROD2 contributors: mct - updated : 19/09/2008
HGNC name MACRO domain containing 2
HGNC id 16126
Corresponding disease
KMS2 Kabuki syndrome 2
Location 20p12.1      Physical location : 13.976.145 - 16.033.839
Synonym name chromosome 20 open reading frame 133
Synonym symbol(s) C20orf133, dJ631M13.5, RP11-189J1.1
DNA
TYPE functioning gene
STRUCTURE 2057.70 kb     19 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 splicing 4863 47.3 425 - Kimura
14 splicing initiation site 4425 23.5 213 - Kimura
  • having multiple differences in the presence and absence of exons compared to variant 1 which cause translation initiation at a downstream AUG
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumearinner   
    Lymphoid/Immunethymus   moderately
    Nervousbrain    
    Urinarybladder   highly
     kidney   moderately
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text predominantly in umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a macro domain, suggesting a role for the gene in chromatin biology
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • potential role in chromatin biology
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KMS2
    Susceptibility to autism spectrum disorders
    Variant & Polymorphism SNP rs4141463 associated with autism spectrum disorders
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS