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    Itm2b integral membrane protein 2B [ Mus musculus (house mouse) ]

    Gene ID: 16432, updated on 17-Mar-2024

    Summary

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    Official Symbol
    Itm2bprovided by MGI
    Official Full Name
    integral membrane protein 2Bprovided by MGI
    Primary source
    MGI:MGI:1309517
    See related
    Ensembl:ENSMUSG00000022108 AllianceGenome:MGI:1309517
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bri; Bri2; E25BMM; imBRI2; Bricd2b; D14Sel6
    Summary
    Enables ATP binding activity. Acts upstream of or within extrinsic apoptotic signaling pathway in absence of ligand. Predicted to be located in Golgi-associated vesicle membrane and extracellular space. Predicted to be integral component of organelle membrane. Predicted to be active in Golgi apparatus and plasma membrane. Is expressed in central nervous system; pancreas epithelium; and retina. Used to study cerebral amyloid angiopathy. Human ortholog(s) of this gene implicated in ITM2B-related cerebral amyloid angiopathy 1 and ITM2B-related cerebral amyloid angiopathy 2. Orthologous to human ITM2B (integral membrane protein 2B). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in genital fat pad adult (RPKM 2218.4), kidney adult (RPKM 608.2) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Itm2b in Genome Data Viewer
    Location:
    14 D3; 14 38.88 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (73599666..73622729, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (73362226..73385289, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene RB transcriptional corepressor 1 Neighboring gene STARR-seq mESC enhancer starr_37112 Neighboring gene microRNA 687 Neighboring gene VISTA enhancer mm1341 Neighboring gene STARR-seq mESC enhancer starr_37114 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene STARR-seq mESC enhancer starr_37116 Neighboring gene STARR-positive B cell enhancer ABC_E9900 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:73788957-73789140 Neighboring gene STARR-positive B cell enhancer ABC_E7335 Neighboring gene STARR-seq mESC enhancer starr_37118 Neighboring gene STARR-seq mESC enhancer starr_37119 Neighboring gene predicted gene, 35450 Neighboring gene predicted gene 4266

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficits. Tamayev R, et al. Proc Natl Acad Sci U S A, 2010 Nov 30. PMID 21098268, Free PMC Article
    2. Generation and initial characterization of FDD knock in mice. Giliberto L, et al. PLoS One, 2009 Nov 18. PMID 19924302, Free PMC Article
    3. BRI2 inhibits amyloid beta-peptide precursor protein processing by interfering with the docking of secretases to the substrate. Matsuda S, et al. J Neurosci, 2008 Aug 27. PMID 18753367, Free PMC Article
    4. Modeling familial British dementia in transgenic mice. Pickford F, et al. Brain Pathol, 2006 Jan. PMID 16612985, Free PMC Article
    5. ITM2BS regulates apoptosis by inducing loss of mitochondrial membrane potential. Fleischer A, et al. Eur J Immunol, 2002 Dec. PMID 12442332

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional BRI2-TREM2 interactions in microglia: implications for Alzheimer's and related dementias.
      Title: Functional BRI2-TREM2 interactions in microglia: implications for Alzheimer's and related dementias.
    2. S100A9 amyloid growth and S100A9 fibril-induced impairment of gamma oscillations in area CA3 of mouse hippocampus ex vivo is prevented by Bri2 BRICHOS.
      Title: S100A9 amyloid growth and S100A9 fibril-induced impairment of gamma oscillations in area CA3 of mouse hippocampus ex vivo is prevented by Bri2 BRICHOS.
    3. The Familial dementia gene ITM2b/BRI2 facilitates glutamate transmission via both presynaptic and postsynaptic mechanisms.
      Title: The Familial dementia gene ITM2b/BRI2 facilitates glutamate transmission via both presynaptic and postsynaptic mechanisms.
    4. Data indicate that double transgenic (Tg-FDD-Tau) mice showed a significant decrease in synaptophysin levels.
      Title: Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice.
    5. BRI2 protein regulates beta-amyloid degradation by increasing levels of secreted insulin-degrading enzyme (IDE).
      Title: BRI2 protein regulates β-amyloid degradation by increasing levels of secreted insulin-degrading enzyme (IDE).
    6. Suggest that Adam7 functions in fertilization through the formation of a complex with heat shock protein 5, calnexin and Itm2b during capacitation in sperm.
      Title: Identification of heat shock protein 5, calnexin and integral membrane protein 2B as Adam7-interacting membrane proteins in mouse sperm.
    7. Itm2b mRNA was differentially expressed in mouse male reproductive tissues, during sexual maturation and up-regulated by testosterone.
      Title: Expression and regulation of type II integral membrane protein family members in mouse male reproductive tissues.
    8. BH3-only protein ITM2Bs is able to induce apoptotic cell death in p53+/+, as well as in p53-/- cell lines.
      Title: Induction of p53-independent apoptosis by the BH3-only protein ITM2Bs.
    9. ITM2B(S) induces apoptosis via a caspase-dependent mitochondrial pathway.
      Title: ITM2BS regulates apoptosis by inducing loss of mitochondrial membrane potential.
    10. The shor form of ITM2B induces apoptosis in IL-2-stimulated cells. The long form can't induce it. ITM2B(s) interacts with Bcl-2, but not with Bad. Mutation of the L and D residues in the BH3 domain abolished the ability of ITM2B(s) to promote apoptosis.
      Title: Proapoptotic activity of ITM2B(s), a BH3-only protein induced upon IL-2-deprivation which interacts with Bcl-2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amyloid-beta binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of amyloid precursor protein biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of amyloid precursor protein biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi-associated vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in organelle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    integral membrane protein 2B
    Names
    immature BRI2
    integral membrane protein 2B (E25B protein)
    transmembrane protein BRI

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_008410.3 → NP_032436.1  integral membrane protein 2B precursor

      See identical proteins and their annotated locations for NP_032436.1

      Status: VALIDATED

      Source sequence(s)
      AC154718
      Consensus CDS
      CCDS27269.1
      UniProtKB/Swiss-Prot
      O89051, Q545S7
      UniProtKB/TrEMBL
      Q3TVJ0, Q3UCT9
      Related
      ENSMUSP00000022704.8, ENSMUST00000022704.9
      Conserved Domains (1) summary
      smart01039
      Location:137 → 231
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      73599666..73622729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O89051.1 GenPept UniProtKB/Swiss-Prot:O89051

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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