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FLASH GENE
Symbol ITM2B contributors: mct - updated : 10-04-2012
HGNC name integral membrane protein 2B
HGNC id 6174
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrineneuroendocrinepituitary  highly
 thyroid   highly
Hearing/Equilibriumear   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac  
Muscularstriatumskeletal  
Nervouscentral    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES fibrous
STRUCTURE
motifs/domains
single transmembrane motif II with an extracellular C terminus
HOMOLOGY
Homologene
FAMILY
CATEGORY structural protein
SUBCELLULAR LOCALIZATION     plasma membrane
text
  • type II transmembrane protein
  • ADAM7 and ITM2B are located in detergent-resistant regions known to be highly correlated with membrane lipid rafts
  • basic FUNCTION
  • may be playing a role in differentiation of neuronal cells
  • possibly involved in some role in nerve terminals
  • linked to the amyloid processing pathway in the brain
  • implicated in influencing APP processing in cells and Abeta deposition
  • might act as a receptor protein that regulates insulin-degrading enzyme levels that in turn influences APP metabolism in a previously unrecognized way
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • homodimerizes with the involvement of intermolecular disulfide bonds
  • ADAM7 forms complexes with calnexin (CANX), heat shock protein 5 (HSPA5), and integral membrane protein 2B (ITM2B)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • association of ADAM7 with ITM2B is remarkably promoted during sperm capacitation owing to a conformational change of ADAM7 that occurs in concert with the capacitation process (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FBD , FDD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in prostate tumor (see TSG13A, TSG13B, TSG13D)
    constitutional     --low  
    specifically decreased in the cerebellum compared to other areas of same brain in MS but not in controls, suggesting that decreased cerebellar ITM2B expression may play a role in cerebellar dysfunction
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS