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FLASH GENE
Symbol RBM20 contributors: SGE/npt - updated : 10-12-2009
HGNC name RNA binding motif protein 20
HGNC id 27424
Corresponding disease
CMD1DD cardiomyopathy, dilated 1 DD
Location 10q25.2      Physical location : 112.404.154 - 112.599.227
DNA
TYPE functioning gene
STRUCTURE 195.07 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 7233 - 1227 - Brauch (2009)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RNA recognition motif-1 (RRM1)
  • an arginine/serine (RS)-rich domain
  • a U1-type zinc finger domain (Brauch 2009)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • encodes motifs prototypical of spliceosome proteins that regulate alternative pre-messenger RNA splicing (Brauch 2009)
  • RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1DD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS