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FLASH GENE
Symbol ITM2B contributors: mct - updated : 10-04-2012
HGNC name integral membrane protein 2B
HGNC id 6174
DNA
TYPE functioning gene
STRUCTURE 28.96 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 polyA site 1896 30.3 266 - Vidal, Ghiso (2006)
- - polyA site 1600 30.3 266 - Vidal
- - polyA site - 30.3 266 - Vidal
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