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ITM2B Gene

protein-coding   GIFtS: 61
GCID: GC13P048807

Integral Membrane Protein 2B

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Integral Membrane Protein 2B1 2     FBD2 5
BRI2 3 5     BRICD2B2
BRICHOS Domain Containing 2B1 2     E25B2
Immature BRI22 3     E3-162
Transmembrane Protein BRI2 3     ABri/ADan Amyloid Peptide2
BRI22 3     Bri3
imBRI22 3     Protein E25B3
ABRI2 5     

External Ids:    HGNC: 61741   Entrez Gene: 94452   Ensembl: ENSG000001361567   OMIM: 6039045   UniProtKB: Q9Y2873   

Export aliases for ITM2B gene to outside databases

Previous GC identifers: GC13P046807 GC13P042794 GC13P047743 GC13P046605 GC13P046602 GC13P047705 GC13P029600


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ITM2B Gene:
Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides
which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is
processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits
the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein,
thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial
British dementia and familial Danish dementia. (provided by RefSeq, Oct 2009)

GeneCards Summary for ITM2B Gene:
ITM2B (integral membrane protein 2B) is a protein-coding gene. Diseases associated with ITM2B include dementia familial british, and dementia, familial danish. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is ITM2A.

UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
Function: Plays a regulatory role in the processing of the beta-amyloid A4 precursor protein (APP) and acts as an
inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of
neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites
Function: Mature BRI2 (mBRI2) functions as a modulator of the beta-amyloid A4 precursor protein (APP) processing
leading to a strong reduction in the secretion of secretase-processed beta-amyloid protein 40 and beta-amyloid
protein 42
Function: Bri23 peptide prevents aggregation of APP beta-amyloid protein 42 peptide into toxic oligomers

Gene Wiki entry for ITM2B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITM2B gene promoter:
         Brachyury   AP-2gamma   c-Rel   Ik-2   POU2F1   POU2F1a   AP-2beta   AP-2alpha   Ik-1   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITM2B promoter sequence
   Search Chromatin IP Primers for ITM2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITM2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14.3   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q14.2

ITM2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITM2B gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P048807:  view genomic region     (about GC identifiers)

Start:
48,807,274 bp from pter      End:
48,837,063 bp from pter
Size:
29,790 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287 (See protein sequence)
Recommended Name: Integral membrane protein 2B  
Size: 266 amino acids; 30338 Da
Subunit: Homodimer; disulfide-linked. Interacts with SPPL2A and SPPL2B. Interacts with APP. Mature BRI2 (mBRI2)
interacts with the APP amyloid beta A4 protein; the interaction occurs at the cell surface and in the endocytic
compartments and enable alpha- and beta-secretase-induced APP cleavage inhibition. Mature BRI2 (mBRI2) interacts
with the APP C99; the interaction occurs in the endocytic compartments and enable gamma-secretase-induced C99
cleavage inhibition. May form heterodimers with Bri23 peptide and APP beta-amyloid protein 40
Secondary accessions: Q9NYH1

Explore the universe of human proteins at neXtProt for ITM2B: NX_Q9Y287

Explore proteomics data for ITM2B at MOPED

Post-translational modifications: 

  • The ectodomain C-terminal part of the imBRI2 is processed by furin producing a secreted Bri23 peptide and a mature
    BRI2, membrane form (mBRI2). The remaining part of the ectodomain of mBRI2 containing the BRICHOS domain is
    cleaved by ADAM10 and is secreted (BRI2C, soluble form). The membrane-bound N-terminal fragment (BRI2C, membrane
    form) is further proteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis
    producing a secreted C-peptide and a BRI2 intracellular domain (BRI2 ICD) released in the cytosol. Shedding by
    ADAM10 facilitates intramembrane cleavage but is not absolutely required for BRI2 ICD generation1
  • Glycosylation at Asn-170 is important for cell surface localization, but doesn't affect furin- and ADAM10-induced
    proteolytic processing1
  • Ubiquitination2 at Lys3, Lys13
  • Glycosylation2 at Asn170
  • Modification sites at PhosphoSitePlus

  • See ITM2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068839.1  
    ENSEMBL proteins: 
     ENSP00000367828   ENSP00000367811   ENSP00000475556   ENSP00000476004  
    Reactome Protein details: Q9Y287

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    ITM2B Assay Products:

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    Cloud-Clone Corp. CLIAs for ITM2B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BRICD: BRICHOS domain containing

    1 InterPro protein domain:
     IPR007084 BRICHOS_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y287

    ProtoNet protein and cluster: Q9Y287

    1 Blocks protein domain: IPB007084 BRICHOS domain

    UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
    Similarity: Belongs to the ITM2 family
    Similarity: Contains 1 BRICHOS domain


    ITM2B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITM2B_HUMAN, Q9Y287
    Function: Plays a regulatory role in the processing of the beta-amyloid A4 precursor protein (APP) and acts as an
    inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of
    neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites
    Function: Mature BRI2 (mBRI2) functions as a modulator of the beta-amyloid A4 precursor protein (APP) processing
    leading to a strong reduction in the secretion of secretase-processed beta-amyloid protein 40 and beta-amyloid
    protein 42
    Function: Bri23 peptide prevents aggregation of APP beta-amyloid protein 42 peptide into toxic oligomers

         Genatlas biochemistry entry for ITM2B:
    integral membrane protein type 2B,ubiquitously expressed

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IPI19849849
    GO:0005515protein binding IPI16027166
    GO:0005524ATP binding IEA--
         
    ITM2B for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Itm2b):
     behavior/neurological  nervous system  no phenotypic analysis 

    ITM2B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itm2btm1.1Ldad for ITM2B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITM2B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITM2B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITM2B

    miRNA
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    miRTarBase miRNAs that target ITM2B:
    hsa-mir-186-5p (MIRT044908), hsa-mir-25-3p (MIRT050305), hsa-mir-320a (MIRT044501), hsa-mir-320b (MIRT036241), hsa-mir-32-5p (MIRT028344), hsa-let-7a-5p (MIRT052500), hsa-mir-99a-5p (MIRT048657), hsa-mir-100-5p (MIRT048501)

    Block miRNA regulation of human, mouse, rat ITM2B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITM2B (see all 13):
    hsa-miR-3689b hsa-miR-92a hsa-miR-3689a-5p hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3689e hsa-miR-143
    SwitchGear 3'UTR luciferase reporter plasmidITM2B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ITM2B

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ITM2B (NM_021999)
    Sino Biological Human cDNA Clone for ITM2B
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITM2B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITM2B

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITM2B_HUMAN, Q9Y287: Integral membrane protein 2B: Golgi apparatus membrane; Single-pass type II membrane
    protein. Note=Immature BRI2 (imBRI2) is cleaved by furin in the Golgi into mBRI2 and a Bri23 peptide. mBRI2 is
    transported to the plasma membrane and Bri23 peptide is secreted
    ITM2B_HUMAN, Q9Y287: BRI2, membrane form: Cell membrane; Single-pass type II membrane protein. Endosome membrane;
    Single-pass type II membrane protein. Note=Mature BRI2 (mBRI2) needs to be transported from the endoplasmic
    reticulum compartment to the cell membrane in order to be able to inhibit APP processing
    ITM2B_HUMAN, Q9Y287: Bri23 peptide: Secreted. Note=Detected in the cerebral spinal fluid (CSF)
    ITM2B_HUMAN, Q9Y287: BRI2C, soluble form: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    extracellular5
    golgi apparatus5
    plasma membrane5
    nucleus4

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA18524908
    GO:0005634nucleus ----
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane IDA19114711

    ITM2B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ITM2B About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Amyloids0.68
    2Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ITM2B
        Amyloids



    ITM2B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITM2B
    Interactions:

        GeneGlobe Interaction Network for ITM2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ITM2B (Q9Y2873 ENSP000003678284) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050673, ENSP000002849814I2D: score=3 STRING: ENSP00000284981
    BCL2P104153, ENSP000003296234I2D: score=3 STRING: ENSP00000329623
    RYKP349253, ENSP000002960844I2D: score=1 STRING: ENSP00000296084
    CREB3O438893I2D: score=1 
    CSF1P096033I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0007399nervous system development TAS10391242
    GO:0042985negative regulation of amyloid precursor protein biosynthetic process IDA16027166
    GO:0097192extrinsic apoptotic signaling pathway in absence of ligand IEA--

    ITM2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITM2B

    1 Novoseek inferred chemical compound relationship for ITM2B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyroglutamate 73.4 3 19518051 (2)



    ITM2B for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ITM2B gene: 
    NM_021999.4  

    Unigene Cluster for ITM2B:

    Integral membrane protein 2B
    Hs.643683  [show with all ESTs]
    Unigene Representative Sequence: BX537657
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378565(uc001vbz.3) ENST00000378549 ENST00000607866 ENST00000463839

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ITM2B (see all 13):
    hsa-miR-3689b hsa-miR-92a hsa-miR-3689a-5p hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3689e hsa-miR-143
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      QuantiTect SYBR Green Assays in human, mouse, rat ITM2B
      QuantiFast Probe-based Assays in human, mouse, rat ITM2B

    Additional mRNA sequence: 

    AF086918.1 AF092128.1 AF136973.1 AF152462.1 AF246221.1 AK000503.1 AK027411.1 AK130048.1 
    BC000554.2 BC016148.1 BC018053.1 BT006863.1 BX537657.1 

    Selected DOTS entries (see all 37):

    DT.453047  DT.92466883  DT.95180619  DT.92338432  DT.100890268  DT.100890301  DT.95174820  DT.100890275 
    DT.120786014  DT.100890304  DT.95197563  DT.102835936  DT.120786093  DT.95345614  DT.100890302  DT.120786036 
    DT.95174831  DT.100890290  DT.100890305  DT.100890306  DT.120786076  DT.91984220  DT.92352650  DT.95174823 

    Selected AceView cDNA sequences (see all 1389):

    AI582534 BC016148 AW167058 CD367541 CB858042 D56496 N64254 CR612400 
    BQ026361 CA414948 CB119236 H89318 AI366058 AI520939 CB114152 CB321727 
    CR599884 C16256 BX484961 AA746260 AI754671 BG569435 AA975137 CB114820 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ITM2B    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
    SP1:              -                                       
    SP2:                                                      
    SP3:              -           -     -                     


    ECgene alternative splicing isoforms for ITM2B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ITM2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGTAGCAA
    ITM2B Expression
    About this image


    ITM2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
    ITM2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITM2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643683

    UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
    Tissue specificity: Ubiquitous. Expressed in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITM2B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ITM2B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itm2b1 , 5 integral membrane protein 2B1, 5 86.09(n)1
    95.49(a)1
      14 (38.88 cM)5
    164321  NM_008410.21  NP_032436.11 
     733622315 
    chicken
    (Gallus gallus)
    Aves ITM2B1 integral membrane protein 2B 74.74(n)
    75.77(a)
      395969  NM_205085.1  NP_990416.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITM2B6
    integral membrane protein 2B
    77(a)
    1 ↔ 1
    1(136938682-136948636)
    African clawed frog
    (Xenopus laevis)
    Amphibia itm2b-prov2 integral membrane protein 2B 77.5(n)    BC042345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc05f022 wufc05f02 73.75(n)   323632  BC044480.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36626
    --
    18(a)
    1 → many
    2L(821422-824337)
    worm
    (Caenorhabditis elegans)
    Secernentea C25F6.76
    Protein C25F6.7, isoform a (C25F6.7) mRNA, complet...
    20(a)
    1 → many
    X(5445161-5448030) WBGene00016106


    ENSEMBL Gene Tree for ITM2B (if available)
    TreeFam Gene Tree for ITM2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITM2B gene
    ITM2A2  ITM2C2  
    8 SIMAP similar genes for ITM2B using alignment to 6 protein entries:     ITM2B_HUMAN (see all proteins):
    DYM    ZNF585B    AEBP2    EDRF1    AURA2    ERBB2
    ITM2A    ITM2C

    ITM2B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ITM2B
    PGOHUM00000236999


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITM2B (see all 599)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048944171,2
    Cpathogenic129778473(+) GTTCTA/TGAACA 2 R * stop-lost0--------
    rs1821536401,2
    --29599413(+) GGCAGC/GGTCCC 1 -- us2k10--------
    rs1452223621,2
    --29748452(+) GTCAAC/TGGGCA 1 -- us2k10--------
    rs1895339461,2
    --29748481(+) GACTGG/TATTTG 1 -- us2k10--------
    rs1487827601,2
    C--29748578(+) AAAAAA/CCCAGG 1 -- us2k10--------
    rs73323761,2
    C,F,A,H--29748716(+) TTTTGT/CCAACC 1 -- us2k16Minor allele frequency- C:0.07NS EA WA CSA 420
    rs1435479071,2
    C--29748724(+) CCTCA-/TTTG  
            
    TTTGT
    1 -- us2k10--------
    rs1513345511,2
    --29748823(+) CCCGGA/GGTATA 1 -- us2k10--------
    rs1818382961,2
    C--29748907(+) AGAACC/GAAGTA 1 -- us2k10--------
    rs38408031,2
    C--29748912(-) ATCCT-/TCCT  
            
    ACTTC
    1 -- us2k12Minor allele frequency- TCCT:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for ITM2B (48807274 - 48837063 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ITM2B: --
    Human Gene Mutation Database (HGMD): ITM2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITM2B
    DNA2.0 Custom Variant and Variant Library Synthesis for ITM2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603904   
    OMIM disorders: 176500  117300  
    UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
  • Cerebral amyloid angiopathy, ITM2B-related 1 (CAA-ITM2B1) [MIM:176500]: A disorder characterized by
    amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system.
    Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the
    predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and
    muscular rigidity. Note=The disease is caused by mutations affecting the gene represented in this entry. A single
    base substitution at the stop codon of ITM2B generates a 277-residue precursor that is cleaved at the normal
    furin processing site to generate the ABri amyloidogenic peptide (PubMed:10391242). ABri accumulates in the brain
    and produces amyloid fibrils responsible for neuronal dysfunction and dementia. ABri peptide variant forms
    fibrils in vitro (PubMed:10526337)
  • Cerebral amyloid angiopathy, ITM2B-related 2 (CAA-ITM2B2) [MIM:117300]: A disorder characterized by
    amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and
    retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include
    progressive ataxia, dementia, cataracts and deafness. Note=The disease is caused by mutations affecting the gene
    represented in this entry. A decamer duplication in the 3' region of ITM2B results in the production of the ADan
    amyloidogenic peptide (PubMed:10781099). ADan is generated by cleavage of the mutated precursor at the normal
    furin processing site. ADan accumulates in the brain and produces amyloid fibrils responsible for neuronal
    dysfunction and dementia

  • Selected diseases for ITM2B (see all 22):    
    About MalaCards
    dementia familial british    dementia, familial danish    functional diarrhea    sick building syndrome
    dementia    cerebral amyloid angiopathy    diarrhea    alzheimer's disease
    irritable bowel syndrome    amyloidosis    cerebritis    cataract
    spasticity    lung adenocarcinoma    choroiditis    inflammatory bowel disease
    ataxia    multiple sclerosis    adenocarcinoma    multiple myeloma

    3 diseases from the University of Copenhagen DISEASES database for ITM2B:
    Amyloidosis     Alzheimer's disease     Inflammatory bowel disease

    ITM2B for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for ITM2B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dementia, familial danish 99 7 15182222 (1), 17029605 (1), 12566161 (1), 18477478 (1) (see all 7)
    dementia, familial british 99 11 14586629 (2), 18282158 (2), 10526337 (1), 12883829 (1) (see all 9)
    cerebral amyloid angiopathy 89.2 3 15152461 (1), 11159188 (1), 18282158 (1)
    familial dementia 80.5 2 16246057 (1), 15983050 (1)
    dementia 71.5 20 16612984 (2), 11290423 (2), 12196136 (1), 16141213 (1) (see all 14)
    neurodegenerative diseases 68.5 7 10526337 (1), 16027166 (1), 17029605 (1), 12566161 (1) (see all 7)
    alzheimers disease 68 4 14586629 (1), 11290423 (1), 18282158 (1)
    neurodegeneration 66 5 16246057 (1), 11290423 (1), 18440095 (1)
    senile plaques 64.4 2 14586629 (1), 11159188 (1)


    Export disorders for ITM2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ITM2B gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with ITM2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BRI2 homodimerizes with the involvement of intermolecular disulfide bonds. (PubMed id 18440095)1, 2, 9 Tsachaki M.... Efthimiopoulos S. (Neurobiol. Aging 2010)
    2. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PubMed id 17965014)1, 2, 9 Martin L.... Haass C. (J. Biol. Chem. 2008)
    3. BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production. (PubMed id 16027166)1, 2, 9 Fotinopoulou A.... Efthimiopoulos S. (J. Biol. Chem. 2005)
    4. The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production. (PubMed id 15983050)1, 2, 9 Matsuda S.... D'Adamio L. (J. Biol. Chem. 2005)
    5. A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. (PubMed id 10781099)1, 2, 9 Vidal R.... Frangione B. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    6. A stop-codon mutation in the BRI gene associated with familial British dementia. (PubMed id 10391242)1, 2, 9 Vidal R....Ghiso J. (Nature 1999)
    7. Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia. (PubMed id 10526337)1, 2, 9 Kim S.H.... Sisodia S.S. (Nat. Neurosci. 1999)
    8. cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B. (PubMed id 9795190)1, 3, 9 Pittois K....Merregaert J. (Gene 1998)
    9. Axonal transport of British and Danish amyloid peptides via secretory vesicles. (PubMed id 14656991)1, 2, 9 Choi S.I.... Levy E. (FASEB J. 2004)
    10. The alpha-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b). (PubMed id 22194595)1, 2 Fluhrer R.... Haass C. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9445 HGNC: 6174 AceView: ITM2B Ensembl:ENSG00000136156 euGenes: HUgn9445
    ECgene: ITM2B H-InvDB: ITM2B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ITM2B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ITM2B Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/itm2b/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ITM2B gene:
    Search GeneIP for patents involving ITM2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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