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FLASH GENE
Symbol MARVELD2 contributors: mct - updated : 09-02-2013
HGNC name MARVEL domain containing 2
HGNC id 26401
Corresponding disease
DFNB49 neurosensory deafness 49
Location 5q13.2      Physical location : 68.710.938 - 68.737.888
Synonym name
  • MARVEL (membrane-associating) domain containing 2
  • tricellulin
  • Synonym symbol(s) FLJ30532, MARVD2, MRVLDC2, Tric, DFNB49
    DNA
    TYPE functioning gene
    STRUCTURE 26.50 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3250 - 173 - 2006 17186462
    also called variant 1 or TRIC-a
    6 - 2261 - 546 lung 2006 17186462
  • also called TRIC-c
  • exon 2 is alternatively spliced and encodes only two predicted transmembrane helices
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas   highly Homo sapiensAdult
    Hearing/Equilibriumearinnervestibule   Homo sapiensAdult
     earinnercochlea   Homo sapiensAdult
    Respiratorynasopharynx     Homo sapiensAdult
     respiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine  Homo sapiensAdult
    Epithelialsensorystato-auditory   Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiensAdult
    Hearing / Equilibriumcochlea cell Homo sapiensAdult
    Lymphoid/Immunedendritic cell Homo sapiensAdultmRNA
    Nervousmicroglia Homo sapiensAdultmRNA
    NervousSchawnn cell Homo sapiensAdult
    Respiratoryepithelial cell Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a occludin-ELL domain, binding directly to TJP1
  • a conserved four-transmembrane MARVEL (MAL and related proteins for vesicle trafficking and membrane link) domain
  • HOMOLOGY
    Homologene
    FAMILY
  • MARVEL domain family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
        intracellular
    intracellular,nucleus
    text one of the constituents of tricellular TJs (tTJs)
    basic FUNCTION
  • first integral membrane protein that is concentrated at the vertically oriented tight junction strands of tricellular contacts
  • having a critical function for formation of the epithelial barrier
  • tight-junction (TJ) protein that contributes to the structure and function of tricellular contacts of neighboring cells in many epithelial tissues
  • tricellular tight-junction (tTJ) protein, which is key in the formation of barriers between tricellular contacts of epithelial cells throughout the body
  • first marker of the tricellular tight junction, which forms at the meeting points of three cells, and it is required for the maintenance of the transepithelial barrier
  • MARVELD3, OCLN, and MARVELD2 are best considered as a group with both redundant and unique contributions to epithelial function and tight junction regulation
  • may be a component to maintain the integrity for peripheral nervous system myelin function and morphology
  • first molecular component of tTJs shown to be involved in their formation and in epithelial barrier function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • MARVELD3, OCLN, and MARVELD2 define the tight junction-associated MARVEL protein family
  • LSR-MARVELD2 system plays a key role in tTJ formation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • OCLN supports tricellular localization of MARVELD2 by excluding MARVELD2 from bTJs (bicellular tight junctions)
  • LSR defines tricellular contacts in epithelial cellular sheets by acting as a landmark to recruit MARVELD2 for tTJ formation
  • OCLN, MARVELD3 and MARVELD2 exhibited homophilic cis-interactions, along one plasma membrane (claudins regulate the interactions between OCLN, MARVELD2 and MARVELD3, which, inversely, modulate claudin oligomerization)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB49
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pancreatic cancer cells, via a c-Jun N-terminal kinase pathway , and in pancreatic ductal adenocarcinomas showed a significant negative correlation with the degree of differentiation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS