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ITM2B Gene

protein-coding   GIFtS: 62

GC13P047705
integral membrane protein 2B
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
ABRI 2, 5
BRI 1, 2, 3, 5
BRI2 2, 3
BRICD2B 2
E25B 1, 2
E3-16 1, 2
FBD 2, 5
OTTHUMP00000018394 2
Descriptions
BRICHOS domain containing 2B 2
Transmembrane protein BRI 3
integral membrane protein 2B 2
External Ids
HGNC: 61741
Entrez Gene: 94452
UniProtKB: Q9Y2873
Ensembl: ENSG000001361567
Search outside databases for aliases for ITM2B gene

Previous GC identifers: GC13P046807 GC13P042794 GC13P047743 GC13P046605 GC13P046602

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  --
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ITM2B gene  

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)

GeneLoc gene densities for chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P047705:     (about GC identifiers)

Start:
47,705,309 bp from pter
End:
47,734,228 bp from pter
Size:
28,920 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000013.9  NT_024524.13  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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: Interacts with SPPL2A and SPPL2B
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
Secondary accessions: Q9NYH1

Post-translational modifications:

  • The C-terminal part of the ectodomain is processed by furin and related proteases producing a
    secreted peptide of 4 to 5 kDa. For the FBD ABRI and FDD ADAN variants the C-terminal secreted
    peptide is larger and may produce amyloid fibrils responsible for neuronal dysfunction and
    dementia. The remaining part of the ectodomain containing the BRICHOS domain is cleaved by ADAM10
    and is secreted as a peptide of 25 kDa. The membrane-bound N-terminal fragment (NTF) of 22 kDa is
    further proteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis
    producing a secreted peptide (BRI2C) and an intracellular domain (ICD) released in the cytosol1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_068839.1  

    ENSEMBL proteins: 
    ENSP00000367828 ENSP00000367811 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ITM2B)
    Human Recombinant Proteins from Abnova (ITM2B)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IEA--
    GO:0005794 Golgi apparatus IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for ITM2B: 
    Browse Antibodies Central at Invitrogen
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    Sigma-Aldrich Antibodies for ITM2B
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    Antibodies from Abcam (ITM2B), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ITM2B)
    Novus Biologicals Antibodies for ITM2B

    Assays for ITM2B: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR007084 BRICHOS


       GeneDecks  ITM2B for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ITM2B)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ITM2B)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021999

                  Applied Biosystems Silencer® siRNAs for ITM2B

                  Sigma-Aldrich siRNA and siRNA Panels for ITM2B  
                         Sigma-Aldrich shRNA for ITM2B  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ITM2B
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021999
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021999
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_021999 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_021999

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

    2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Itm2b):

    nervous systemno phenotypic analysis

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  ITM2B 


    5/7 Interacting proteins for ITM2B (ENSP000003678283) via UniProtKB, MINT, and/or STRING (see all 7 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPENSP000002849813STRING (score=.981)
    CST3ENSP000003661243STRING (score=.891)
    FURINENSP000002681713STRING (score=.809)
    INSENSP000003707313STRING (score=.8)
    PLATENSP000002208093STRING (score=.746)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399 nervous system development TAS10391242
    GO:0007605 sensory perception of sound IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ITM2B

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ITM2B)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ITM2B)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_021999

                  Sigma-Aldrich siRNA and siRNA Panels for ITM2B  
                         Sigma-Aldrich shRNA for ITM2B  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    REFSEQ mRNAs for ITM2B gene: 

    NM_021999.4   


                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_021999
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_021999
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_021999 

    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 CR590893.1 CR592908.1 CR593958.1 
    CR594037.1 CR594079.1 CR594256.1 CR595747.1 CR598047.1 CR599660.1 CR599825.1 CR599884.1 
    CR603570.1 CR606888.1 CR608090.1 CR610320.1 CR610712.1 CR612400.1 CR613483.1 CR617212.1 
    CR618055.1 CR619102.1 CR620534.1 CR620837.1 CR621556.1 CR621906.1 CR625796.1 CR626358.1 

    24/38 DOTS entries (see all 38 ):

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

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

    CD367541 AI624978 AI473615 CD518851 AI363736 CR608090 H43894 T31525 
    AW027859 CB119292 CD517634 T30142 AW167058 CB122895 H88747 AA630492 
    CR613483 CB121865 AI912364 CR612400 CA395865 BP381737 AI025980 CD367861 

    highest scoring ESTs for ITM2B:

    AI499172 AI638576 AA046071 AA135881 AA327418 AA384702 AA586771 AA746260 AA843944 AA852819 

    Unigene Cluster for ITM2B:

    Integral membrane protein 2B
    Hs.643683  [show with all ESTs]
    Unigene Representative Sequence: BX537657


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for ITM2B

    2 Ensembl transcripts including schematic representations:
    ENST00000378565  ENST00000378549  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ITM2B expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ITM2B

    1 / 2 / 3

    9 probe-sets matching ITM2B gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    73196_s_at2, 3 U95-E 1 1.00 1.00 0.92 1.38 AI283537 0.60 1.00 0.82 1

    51682_s_at2, 3 U95-C 1 1.00 1.00 0.95 1.36 AA007156 0.60 1.00 0.82 1

    41300_s_at2, 3 U95-A 1 1.00 1.00 0.93 1.00 AA477898 0.40 1.00 0.76 1

    48830_r_at2, 3 U95-C 1 1.00 1.00 0.61 0.49 AI499172 1.00 1.00 1.00 1

    44784_at2, 3 U95-B 1 0.50 1.00 0.83 0.77 AI638576 1.00 1.00 1.00 1

    217732_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF092128 0.80 1.00 0.91 1

    217731_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_021999 0.60 1.00 0.82 1

    217732_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    217731_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TAAGTAGCAA

    SOURCE GeneReport for Unigene cluster: Hs.643683

    Expression variation in blood from EXPOLDB for ITM2B

    UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287
    Tissue specificity: Expressed in brain and in other tissues

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ITM2B gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ITM2B1   -- integral membrane protein 2B 92.04(n)
    96.02(a)
    476916  XM_534119.2  XP_534119.2 
    chimpanzee
    (Pan troglodytes)
    ITM2B1   -- integral membrane protein 2B 99.25(n)
    98.87(a)
    452714  XM_509776.2  XP_509776.2 
    cow
    (Bos taurus)
    ITM2B1   -- integral membrane protein 2B 90.57(n)
    94.72(a)
    510575  NM_001035093.1  NP_001030265.1 
    rat
    (Rattus norvegicus)
    Itm2b1   -- integral membrane protein 2B 88.22(n)
    96.24(a)
    290364  NM_001006963.1  NP_001006964.1 
    mouse
    (Mus musculus)
    Itm2b1, 5 14 (32.50 cM)5
    integral membrane protein 2B1, 5 86.09(n)1
    95.49(a)1
    164321  NM_008410.21  NP_032436.11 
     AB0302035  AB0302045  (see all 58)
    About this table        Species with no ortholog for ITM2B

    ENSEMBL Gene Tree for ITM2B
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ITM2B gene
    ITM2A2  ITM2C2  

    Pseudogenes
    1 related pseudogene


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/191 NCBI SNPs in ITM2B are shown (see all 191 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 75)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs38093281,2
    A,C,F,H47704511(-) CGTTAC/TTGCGT 1 -- ng5119Minor allele frequency- T:0.25NS MN EA EU WA NA 2208
    rs93323051,2
    C,F,H47733586(+) TCATAG/AATAAT 1 -- ut318Minor allele frequency- A:0.01NS EU EA WA NA 722
    --
    rs121001351,2
    A,C,F47705005(+) TACAGG/AGAAGC 1 -- ng512Minor allele frequency- A:0.07MN EA 356
    rs93323041,2
    C,F,H47733504(+) AATTCA/TATTAA 1 -- ut318Minor allele frequency- T:0.06NS EU EA WA NA 710
    rs73323761,2
    A,H47703650(+) TTTTGT/CCAACC 1 -- ng513Minor allele frequency- C:0.00EU EA 298
    rs93323061,2
    F,H47733646(+) TTTATC/TTGGAT 1 -- ut31 ese35Minor allele frequency- T:0.01NS EU EA WA 588
    --
    rs93322461,2
    F47704215(+) CAGCCC/TAGGAT 1 -- ng511Minor allele frequency- T:0.02NS 162
    --
    rs93322481,2
    F47704774(+) TGGGAC/GTAGGC 1 -- ng511Minor allele frequency- G:0.02NS 168
    rs95349991,2
    H47734063(+) TTCTTC/AAAATC 1 -- ut314Minor allele frequency- A:0.00EU EA WA 420
    --
    rs170714971,2
    F47704728(+) AGATGT/CTTGAA 1 -- ng514Minor allele frequency- C:0.01MN EA 712
    About this table

    HapMap Linkage Disequilibrium images for ITM2B (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 603904   disorders: 176500  117300  

    UniProtKB/Swiss-Prot: ITM2B_HUMAN, Q9Y287

  • Defects in ITM2B may be associated with familial British dementia (FBD) [MIM:176500]. FBD
    is an autosomal dominant disease characterized by progressive dementia, spasticity, and cerebellar
    ataxia, with onset at around the fifth decade of life. Cerebral amyloid angiopathy, non-neuritic
    and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions
  • Defects in ITM2B may be associated with familial Danish dementia (FDD) [MIM:117300]; also
    known as heredopathia ophthalmo-oto-encephalica. FDD is an autosomal dominant disorder
    characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings
    include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary
    tangles, similar to Alzheimer disease
  • 9 Novoseek disease relationships for ITM2B gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    dementia, familial british 99.06 11 14586629 (2), 18282158 (2), 10526337 (1), 12883829 (1) (see all 9)
    dementia, familial danish 99.01 7 15182222 (1), 17029605 (1), 12566161 (1), 18477478 (1) (see all 7)
    cerebral amyloid angiopathy 89.29 3 15152461 (1), 11159188 (1), 18282158 (1)
    familial dementia 81.72 2 16246057 (1), 15983050 (1)
    dementia 71.05 18 16612984 (2), 11290423 (2), 12196136 (1), 16141213 (1) (see all 12)
    neurodegenerative diseases 67.29 7 10526337 (1), 16027166 (1), 17029605 (1), 12566161 (1) (see all 7)
    alzheimers disease 66.81 4 14586629 (1), 11290423 (1), 18282158 (1)
    neurodegeneration 66.60 4 16246057 (1), 11290423 (1)
    senile plaques 66.11 2 14586629 (1), 11159188 (1)
    About this table

    1 PharmGKB disease relationship for ITM2B gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Human Gene Mutation Database: ITM2B

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/51 PubMed articles for ITM2B gene (see all 51 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for ITM2B Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/itm2b/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ITM2B:
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      Free SNP selection tool



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     Predesigned and custom siRNAs for ITM2B Antibodies for ITM2B
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