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FLASH GENE
Symbol ESAM contributors: mct - updated : 10-05-2023
HGNC name endothelial cell adhesion molecule
HGNC id 17474
Corresponding disease
DDIDE developmental delay, intellectual disability, epilepsy
Location 11q24.2      Physical location : 124.623.020 - 124.632.223
Synonym name
  • similar to endothelial cell-selective adhesion molecule
  • HUEL (C4orf1)-interacting protein
  • LP4791 protein
  • Synonym symbol(s) W117m, 2310008D05Rik
    DNA
    TYPE functioning gene
    STRUCTURE 9.16 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1829 41 390 - 2016 26774386
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
     vessels     Homo sapiens
    Respiratorylung   highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier/lining   
    Muscularsmoothvessel   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmegakaryocyte
    Blood/Hematopoieticplatelet
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text developing vascular system
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • V-type and C2-type immunoglobulin domain
  • one hydrophic signal sequence
  • one transmembrane region
  • one cytoplasmic domain
  • HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin receptor family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    plasma membrane,junction,adherens
    text colocalizing with markers of tight junction and restricted at the most apical tip of lateral cell surfaces
    basic FUNCTION
  • playing a role in cell-cell interactions that is critical for vascular development or function
  • plays essential roles in stress-induced hematopoiesis
  • ESAM expression in hematopoietic progenitors is essential for erythroid recovery after a bone marrow (BM) injury
  • ESAM had important roles in developing definitive hematopoiesis
  • essential role for endothelial barrier integrity in a tissue-specific way
  • regulates inflammatory cell adhesion and transmigration and promotes angiogenesis
  • ESAM plays a mechanistic role in proper myocardial vascularization and the maintenance of Left ventricular diastolic function under basal and hemodynamic stress conditions
  • encodes a TJ (tight junction) protein related to JAM proteins involved in the formation and maintenance of the BBB
  • endothelial cell-selective adhesion molecule, which mediates homophilic interactions between endothelial cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ESAM interacts with endoglin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDIDE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in some primary acute myeloid leukemia cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a useful marker for studying both human hematopoietic stem cells and leukemia cells
  • candidate circulating biomarker to predict the risk of progression to kidney failure
  • Therapy target
    ANIMAL & CELL MODELS
  • mice with endothelial cell-selective adhesion molecule deficiency develop coronary microvascular rarefaction and left ventricle diastolic dysfunction