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FLASH GENE
Symbol MED13L contributors: mct - updated : 27-03-2019
HGNC name mediator complex subunit 13-like
HGNC id 22962
Corresponding disease
DTGA dextro-looped transposition of the great arteries
MRFACD mental retardation and distinctive facial features with or without cardiac defects
Location 12q24.21      Physical location : 116.396.382 - 116.714.991
Synonym name
  • thyroid hormone receptor associated protein 2
  • protein similar to TRAP240
  • Synonym symbol(s) KIAA1025, TRAP240L, PROSIT240, FLJ21627, THRAP2, FLJ21627, KIAA1025, DKFZp781D0112
    DNA
    TYPE functioning gene
    STRUCTURE 318.61 kb     31 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 9393 - 2210 - 2004 1514506
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinethyroid   highly
    Nervousbrainforebraincerebral lobefrontal lobe 
    Reproductivefemale systembreastmammary gland highly
     male systemtestis   
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eyes
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor nuclear
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in transcriptional regulation and believed to serve as adapting interface between regulatory proteins bound to specific DNA sequences and RNA polymerase II
  • involved in early heart and brain development
  • multiprotein transcriptional coactivator required for induction of RNA polymerase II (pol II) transcription by DNA binding transcription factors
  • required for Rb/E2F control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MED13/MED13L physically link the CDK8 module to Mediator, and FBXW7 loss increases CDK8 module-Mediator association
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DTGA , MRFACD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS