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FLASH GENE
Symbol MUC4 contributors: np/mct - updated : 11-03-2011
HGNC name mucin 4, cell surface associated
HGNC id 7514
DNA
TYPE functioning gene
STRUCTURE 65.51 kb     25 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence   other
text structure VNTR
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
text
  • five secreted and two membrane associated
  • alternative use of cassette exons, exon skipping or use of cryptic splice donor/acceptor sites
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 17123 - 5412 - 1995 8654841
    also called variant 1/isoform a or sv0
    24 - 4415 4.51 1176 - 1995 8654841
    also called variant 4/isoform d or MUC4/Y
    23 - 4262 - 1125 - 1995 8654841
    also called variant 5/isoform e or MUC4/X
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     mouth   highly
     pharynx   highly
     stomach   highly
    Respiratoryrespiratory tracttrachea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivegoblet
    Respiratorygoblet cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • variable tandem repeat (48bp) domain
  • one cysteine residue (VNTR) in the N terminal region,giving after cleavage the two subunits MUC4A, MUC4B, MUC4- beta possessing two EGF-like domains
  • a transmembrane sequence (1TM)
  • a potential phosphorylation site
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus sialomucin
    Homologene
    FAMILY
    CATEGORY secretory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • involved in intestinal epithelial cell differentiation
  • implicated in the integrity of the renewal of the epithelium
  • potentiates neuregulin signaling by increasing the cell-surface populations of ERBB2 and ERBB3
  • function as a modulator of cell signaling and provide mechanistic evidence for its role in pancreatic cancer progression
  • plays a role in ovarian cancer cell motility, in part, by altering actin arrangement and potentiating ERRB2 downstream signalling in these cells (
  • can act as a ligand/modulator for ERBB2, affecting its localization in polarized epithelial cells and its phosphorylation
  • heterodimeric membrane mucin implicated in epithelial differentiation and tumor progression
  • undergoes proteosomal degradation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for Erb2 in cell signaling
  • target gene of ETV4 in pancreatic cancer cells (a transactivator of the MUC4 promoter through the -216 and -2368 ETV4 binding sites of the MUC4 promoter)
  • cell & other
    REGULATION
    Other regulated by TGFbeta, which represses the precursor cleavage
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pancreatic carcinoma
    tumoral     --low  
    in ovarian epithelial cancer with increased cancer stage
    tumoral     --other  
    aberrantly expressed in 75p100 of pancreatic ductal adenocarcinomas
    tumoral     --over  
    in ovarian tumors and has a role in the invasiveness of OC cells
    tumoral     --over  
    in squamous cervical dysplasia and carcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • useful biological marker for the diagnosis of ductal adenocarcinomas
  • lineage marker in benign cervical tissue
  • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    MUC1 and MUC4 may be attractive targets for the selection of treatment methods in oral squamous cell carcinoma (OSCC)
    ANIMAL & CELL MODELS