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FLASH GENE
Symbol MUC3A contributors: mct - updated : 23-10-2010
HGNC name mucin 3A, cell surface associated
HGNC id 7513
Location 7q22.1      Physical location : -
Synonym name
  • mucin
  • mucin 3A, intestinal
    • Synonym symbol(s) MUC3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure CpG methylation status in the proximal promoter region may play an important role in regulating gene expression of MUC3A
    MAPPING cloned Y linked Y status confirmed
    Map cen - ERV3 - D7S398 - D7S524 - D7S129 - D7S15 - COL1A2 - MUC3A - D7S515 - D7S493 - D7S496 - D7S471 - MET - D7S466 - D7S461 - D7S512 - D7S500 - D7S509 - D7S72 - qter
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced (multiple soluble and membrane bound isoforms)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text weakly in immature tubule
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal repetitive structures, one with an array of 20 short tandemly repeated structures, the second encoding a major serine/threonine domain
  • an extracellular cysteine-rich domain with 2 epidermal growth factor (EGF)-like motifs
  • a C terminal non repetitive mucin-like, a SEA (sea urchin sperm protein, enterokinase and agrin) module, with an intrinsic proteolytic site sequence G downward arrow SIVV (where G downward arrow S is the glycine serine cleavage site)
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY secretory , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • involved in epithelial cell protection
  • adhesion modulation and signaling
  • membrane-bound glycoprotein that is aberrantly expressed in carcinomas
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly expressed in several carcinomas
    Susceptibility Crohn's disease and ulcerative colitis
    Variant & Polymorphism
    Candidate gene
    Marker
  • methylation status of the MUC3A promoter may be a novel epigenetic marker for the diagnosis of carcinogenic risk and prediction of outcomes for cancer patients
    • Therapy target represents a potential novel therapeutic agent for intestinal wound healing
    ANIMAL & CELL MODELS