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FLASH GENE
Symbol SHROOM4 contributors: mct - updated : 26-10-2011
HGNC name shroom family member 4
HGNC id 29215
Corresponding disease
SDSX Stocco Dos Santos mental retardation syndrome
Location Xp11.23      Physical location : 50.334.642 - 50.557.044
Synonym name KIAA1202 protein
Synonym symbol(s) KIAA1202
DNA
TYPE functioning gene
SPECIAL FEATURE escaping inactivation
STRUCTURE 222.40 kb     9 Exon(s)
MAPPING cloned Y linked N status provisional
regionally located in the OA1 region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 9571 - 1493 - 2006 16684770
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 mouthtongue   
 pharynx    
Endocrinethyroid    
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text
  • broadly expressed in developing epithelial organs, and the epithelial cells that express SHROOM are elongated
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal PDZ domain
  • a C-terminal unique domain ASD2 (Apx/Shroom domain 2), characteristic signature of the SHRM family
  • HOMOLOGY
    interspecies ortholog to murine Shroom4 (83 pc)
    Homologene
    FAMILY SHROOM family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • putatively involved in the regulation of amiloride-sensitive sodium channel activity
  • critical determinant of the cellular architecture requirig for prosper neurulation
  • is a potential regulator of cytoskeletal architecture that may play an important role in vertebrate development
  • SHROOM family proteins govern epithelial cell behaviors by coordinating the assembly of both microtubule and actin cytoskeletons
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • regulator of cell shape changes in the developing nervous system
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SDSX
    Susceptibility
    Variant & Polymorphism
    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