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FLASH GENE
Symbol SHROOM2 contributors: mct - updated : 09-05-2017
HGNC name shroom family member 2
HGNC id 630
Location Xp22.31      Physical location : 9.754.495 - 9.917.481
Synonym name
  • apical protein-like (Xenopus laevis)
  • protein APXL
    • Synonym symbol(s) APXL, FLJ39277, DKFZp781J074, HSAPXL
    DNA
    TYPE functioning gene
    STRUCTURE 163.04 kb     10 Exon(s)
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 7445 - 1616 - 2011 21248203
    6 - 4698 - 451 - 2011 21248203
    6 - 4695 - 450 - 2011 21248203
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Reproductivefemale systemplacenta   
    Respiratorylung    
    Urinarykidney    
    Visualeyeretina  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text
  • broadly expressed in developing epithelial organs, and the epithelial cells that express SHROOM are elongated
    • IMPRINTING paternally
    text maternally expressed
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • PDZ
  • a unique domain, ASD2 (Apx/Shroom domain 2), characteristic signature of the SHRM family
  • a serine- and proline-rich region
    • HOMOLOGY
    interspecies homolog to apical protein from Xenopus laevis (APX)-like 1
    Homologene
    FAMILY SHROOM family
    CATEGORY regulatory , unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction,tight
    plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • associated with the tight junctions in multiple embryonic and adult epithelia
    • basic FUNCTION
  • putatively involved in the regulation of amiloride-sensitive sodium channel activity
  • critical determinant of the cellular architecture requirig for prosper neurulation
  • implicated in the control of the actin cytoskeleton
  • both necessary and sufficient to govern the localization of pigment granules at the apical surface of epithelial cells, and regulates melanosome biogenesis and localization in the retinal pigment epithelium
  • SHROOM family proteins govern epithelial cell behaviors by coordinating the assembly of both microtubule and actin cytoskeletons
  • submembranous PDZ domain-containing protein
  • SHROOM2 and TJP1 form a tight-junction-associated scaffolding complex, possibly linked to myosin VIIa, that bridges the junctional membrane to the underlying cytoskeleton, thereby contributing to the stabilization of these junctions
  • PDZ-domain protein involved in the regulation and maintenance of cytoskeletal architecture by binding to actin
  • SHROOM family proteins play an important role in the morphogenesis of several different epithelial tissues during development
  • facilitates the formation of a contractile network within endothelial cells, the loss of which leads to an increase in endothelial sprouting, migration, and angiogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • regulator of cell shape changes in the developing nervous system
    • PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly interacts with the C-terminal MyTH4-FERM domain of MYO7A and with F-actin
  • TJP1 directly interacts with the serine- and proline-rich region of SHROOM2
  • directly interacts with ROCK1
  • SHROOM2-ROCK1 interaction is sufficient to direct ROCK1 subcellular localization and the subsequent assembly of contractile actomyosin networks in defined subcellular locales
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in a failure of cell elongation in the neural epithelium
    Susceptibility to colorectal cancer
    Variant & Polymorphism SNP
  • rs5934683, near SHROOM2, influences colorectal cancer risk
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutated in mouse Shrm causing exencepaly, acrania, facial clefting and spina bifida, all of wich can be attributed to failes neural tube closure