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FLASH GENE
Symbol ITM2B contributors: mct - updated : 10-04-2012
HGNC name integral membrane protein 2B
HGNC id 6174
Corresponding disease
FBD dementia, familial British
FDD dementia, familial Danish
Location 13q14.3      Physical location : 48.807.273 - 48.836.232
Synonym name
  • BRICHOS domain containing 2B
  • British precursor protein 2
    • Synonym symbol(s) BRI, ABRI, BRI2, E25B, FBD, E25B; E3-16, BRICD2B, FBD
    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
    Physical map
    LOC220416 13q14.11 similar to Leucine-rich repeat protein SHOC-2 (Ras-binding protein Sur-8) LOC390403 13 similar to hypothetical protein FLJ20457 C13orf18 13q14.11 chromosome 13 open reading frame 18 LOC81993 13q14-q21 COX17 pseudogene CHDC1 13q14.11 calponin homology (CH) domain containing 1 ESD 13q14.1-q14.2 esterase D/formylglutathione hydrolase HTR2A 13q14.3 5-hydroxytryptamine (serotonin) receptor 2A SUCLA2 13q12.2-q13.3 succinate-CoA ligase, ADP-forming, beta subunit NUDT15 13q14.12 nudix (nucleoside diphosphate linked moiety X)-type motif 15 VDRIP 13q14.12 vitamin D receptor interacting protein ITM2B 13q14.3 integral membrane protein 2B RB1 13q14.2 retinoblastoma 1 (including osteosarcoma) P2RY5 13q14 purinergic receptor P2Y, G-protein coupled, 5 CHC1L 13q14.3 chromosome condensation 1-like CYSLTR2 13q14.12-p21.1 cysteinyl leukotriene receptor 2 LOC338099 13q13 proteasome activator subunit 2 pseudogene KIAA0970 13q14.11 proteasome activator subunit 2 pseudogene RAD17P2 13q14.3 RAD17 homolog (S. pombe) pseudogene 2 COX7CP1 13q14-q21 cytochrome c oxidase subunit VIIc pseudogene 1 LOC387924 13 similar to hypothetical protein FLJ10826 GPR38 13q14-q21 G protein-coupled receptor 38 CDADC1 13q14.12 cytidine and dCMP deaminase domain containing 1 FLJ12577 13q14.12 hypothetical protein FLJ12577 SETDB2 13q14 SET domain, bifurcated 2 PHF11 13q14.12 PHD finger protein 11 RCBTB1 13q14 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ARLTS1 EBRP 13q12-q13 emopamil binding related protein, delta8-delta7 sterol isomerase related protein KPNA3 13q14.3 karyopherin alpha 3 (importin alpha 4) LOC220429 13q14.13 similar to Meningioma-expressed antigen 6/11 (MEA6) (MEA11) C13orf1 13q14 chromosome 13 open reading frame 1 RFP2 13q14 ret finger protein 2 KCNRG 13q14.11 potassium channel regulator DLEU2 13q14.2-q14.3 deleted in lymphocytic leukemia, 2 DLEU1 13q14.2-q14.3 deleted in lymphocytic leukemia, 1 FAM10A4 13q14.3 family with sequence similarity 10, member A4
    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