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FLASH GENE
Symbol MRTFB contributors: mct - updated : 13-10-2015
HGNC name myocardin-related transcription factor B
HGNC id 29819
Location 16p13.12      Physical location : -
Synonym name
  • megakaryoblastic leukemia 2
  • MKL/myocardin-like 2
  • Synonym symbol(s) DKFZp686J1745, FLJ31823, FLJ45623, MRTF-B, NPD001, KIAA1243, MKL2
    DNA
    TYPE functioning gene
    STRUCTURE 195.43 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 8680 - 1049 - 2010 20607705
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmegakaryocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
  • myocardin/megakaryoblastic leukemia gene family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • B plays a critical role in regulating differentiation of cardiac neural crest cells into smooth muscle and demonstrate that neural crest-derived smooth muscle differentiation is specifically required for normal cardiovascular morphogenesis
  • has a unique role in regulating smooth muscle genes important for liver, yolk sac, and portal vascular development
  • vplay a role in regulating cardiovascular patterning, vascular smooth muscle cell and cardiomyocyte differentiation and in the pathogenesis of congenital heart disease and vascular proliferative syndromes
  • increase the expression levels of actin cytoskeletal proteins via serum response factor, thereby triggering reorganization of the actin cytoskeleton
  • important mediators of TGF-beta1-induced epithelial-mesenchymal transition
  • with MKL1, are co-activators for serum response factor (SRF)
  • (plays a role in megakaryocyte maturation
  • MKL1 and MKL2 have both SRF-dependent and SRF-independent activity in megakaryocytopoiesis
  • regulates a conserved TGFB1 signaling pathway that is required for angiogenesis and ultimately embryonic survival
  • MKL1, MKL2 are required for accurate cell cycle progression and maintenance of genomic stability in fibroblast cells
  • redundant but essential roles of MKL1, MKL2 in maintenance of cardiac structure and function and as indispensible links in cardiac cytoskeletal gene regulatory networks
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • MKL2/TGFB1 signaling pathway in embryonic stem (ES) cells that is required for maturation and stabilization of the embryonic vasculature
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dysfunction of MKL2 and its transcriptional coactivation partner, SRF, was supported by a decrease in gene and protein expression of CDK16, a downstream target of MKL2:SRF heterodimer transcriptional activation
  • MKL2 plays a redundant role to that of MKL1 either in fibroblasts or in keratinocytes
  • SRF utilizes MKL1/2 to fulfill steady state cellular functions, including cytoskeletal organization, and utilizes ELK4 to facilitate acute responses to external infection
  • correlations of MYOCD with CAV1 in a majority of human tissues and in the heart, correlation with MKL2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    t(11;16)(q13;p13), in C11orf95-MKL2 fusion oncogene in chondroid lipoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • defects observed in Mrtf-A/B null mice ranged from reduced cardiac contractility and adult onset heart failure to neonatal lethality accompanied by sarcomere disarray
  • Mkl2(-/-) null embryos exhibit profound derangements in the tunica media of select arteries and arterial beds, which leads to aneurysmal dilation, dissection and hemorrhage