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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITM2B Gene

protein-coding   GIFtS: 57
GCID: GC13P048807

integral membrane protein 2B

 Explore 20 diseases affiliated with
ITM2B via our new
 Human Malady Compendium 
Biological research products
for ITM2B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Integral Membrane Protein 2B1 2     ImBRI21
BRI1 2 3 5     ABRI2 5
BRICD2B1 2     FBD2 5
E25B1 2     ABri/ADan Amyloid Peptide2
E3-161 2     BRICHOS Domain Containing 2B2
Immature BRI22 3     Bri3
Transmembrane Protein BRI2 3     Protein E25B3
BRI22 3     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITM2B:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ITM2B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: 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
Subcellular location: 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
Subcellular location: Bri23 peptide: Secreted. Note=Detected in the cerebral spinal fluid (CSF)
Subcellular location: BRI2C, soluble form: Secreted
Secondary accessions: Q9NYH1

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y287

  • ITM2B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_068839.1  
    ENSEMBL proteins: 
     ENSP00000367828   ENSP00000367811  
    Reactome Protein details: Q9Y287
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ITM2B

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

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


    ITM2B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ITM2B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007084 BRICHOS_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y287

    ProtoNet protein and cluster: Q9Y287

    1 Blocks protein family: IPB007084 BRICHOS domain

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

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    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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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IPI19849849
    GO:0005515protein binding IPI17965014
    GO:0005524ATP binding IEA--


    ITM2B for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Itm2btm1.1Ldad for ITM2B
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Itm2b):
     behavior/neurological  nervous system  no phenotypic analysis 

    ITM2B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amyloid precursor proteins form ordered fibrils
    Amyloid precursor proteins form ordered fibrils1.00
    Amyloids0.43
    2IL-2 Signaling Pathway
    IL-2 Signaling Pathway1.00
    3Disease
    Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ITM2B 
        IL-2 Signaling Pathway

    3        Reactome Pathways for ITM2B
        Amyloids
    Amyloid precursor proteins form ordered fibrils
    Disease



    ITM2B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITM2B

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

    5/27 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0006917induction of apoptosis IEA--
    GO:0007399nervous system development TAS10391242
    GO:0042985negative regulation of amyloid precursor protein biosynthetic process IDA16027166


    ITM2B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITM2B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITM2B
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ITM2B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378565(uc001vbz.3) ENST00000378549 ENST00000463839

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    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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    Inhib. RNA
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    Additional cDNA 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 

    24/43 DOTS entries (see all 43):

    DT.453047  DT.92338432  DT.92466883  DT.95180619  DT.100890268  DT.100890301  DT.95174820  DT.97760134 
    DT.100890275  DT.120786014  DT.120786093  DT.100890290  DT.95174823  DT.100890302  DT.95174831  DT.100890304 
    DT.95197563  DT.102835936  DT.95345614  DT.100890305  DT.120786036  DT.100890269  DT.100890306  DT.120786076 

    24/1389 AceView cDNA sequences (see all 1389):

    CA421438 N40649 AA559007 AW338727 CD678467 CB119779 BF742104 CB216193 
    BQ636206 CB122919 AW206764 CB113872 BM785126 AI216370 T94398 CB119755 
    BM784691 CB118336 CB853587 CB163643 CA414948 H89318 AI366058 AA873283 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITM2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGTAGCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ITM2B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITM2B

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ITM2B gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ITM2B1 integral membrane protein 2B 75.03(n)
    76.06(a)
      395969  NM_205085.1  NP_990416.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITM2B6
    --
    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 b
    17(a)
    1 → many
    X(5445037-5447998)


    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)
    About This Section
    Paralogs for ITM2B gene
    ITM2C2  ITM2A2  
    2 SIMAP similar genes for ITM2B using alignment to 4 protein entries:     ITM2B_HUMAN (see all proteins):
    ITM2A    ITM2C

    ITM2B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ITM2B
    PGOHUM00000236999


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/523 NCBI SNPs in ITM2B are shown (see all 523    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048944171,2
    Cpathogenic29627552(+) GTTCTA/TGAACA 2 R * stop-lost0--------
    rs73323761,2
    C,F,A,H,--29597848(+) TTTTGT/CCAACC 1 -- us2k16Minor allele frequency- C:0.07NS EA WA CSA 420
    rs79957221,2
    C,F,--29598661(+) ATAACA/GCATTT 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1176495601,2
    C,F,--29598813(+) AAAATA/CAAGGG 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1122139271,2
    --29598883(+) AGTACG/TCACAA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs170714971,2
    --29598922(+) AGATGT/CTTGAA 1 -- us2k16Minor allele frequency- C:0.01MN EA NA 834
    rs93322481,2
    C,F,--29598968(+) TGGGAC/GTAGGC 1 -- us2k13Minor allele frequency- G:0.09NS WA 288
    rs1147498421,2
    C,F,--29600196(+) AATAAT/CGTACC 1 -- int11Minor allele frequency- C:0.04WA 118
    rs788066001,2
    F,--29600621(+) AAGTGG/AGGCTG 1 -- int11Minor allele frequency- A:0.03NA 120
    rs734850571,2
    C,--29600767(+) TTATGT/ATGCTT 1 -- int12Minor allele frequency- A:0.10WA 120

    HapMap Linkage Disequilibrium report for ITM2B (48807274 - 48837063 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ITM2B: --
    Human Gene Mutation Database (HGMD): ITM2B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    ITM2B for disorders           About GeneDecksing

    OMIM gene information: 603904   
    OMIM disorders: 176500  117300  
    UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
  • Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 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=ABri amyloidogenic peptide variant is cleaved at the normal furin processing site to generate
    peptide that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia.
    ABri peptide variant forms fibrila in vitro
  • Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 2 (CAA-ITM2B2) [MIM:117300];
  • also known as heredopathia ophthalmo-oto-encephalica. 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=ADan amyloidogenic peptide variant is cleaved at the normal furin processing site to generate peptide
    that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia

    20 diseases for ITM2B:    About MalaCards
    dementia, familial danish    dementia    dementia familial british    alzheimer's disease
    cerebral amyloid angiopathy    sick building syndrome    irritable bowel syndrome    functional diarrhea
    neurodegenerative disease    alzheimer disease familial    diarrhea    neurodegeneration
    multiple sclerosis    amyloidosis    cerebritis    spasticity
    lung adenocarcinoma    choroiditis    adenocarcinoma    ataxia

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

    9 Novoseek 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)
    About This Section

    PubMed articles for ITM2B gene, integrated from 9 sources (see all 78):
    (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 intermolec ular disulfide bonds. (PubMed id 18440095)1, 2, 9 Tsachaki M....Efthimiopoulos S. (2010)
    2. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PubMed id 17965014)1, 2, 9 Martin L....Haass C. (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. (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. (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. (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. (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. (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. (1998)
    9. Axonal transport of British and Danish amyloid peptides via secretory vesicles. (PubMed id 14656991)1, 2, 9 Choi S.I....Levy E. (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. (2012)

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

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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