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TMIE Gene

protein-coding   GIFtS: 48
GCID: GC03P046717

Transmembrane Inner Ear

(Previous names: deafness, autosomal recessive 6)
(Previous symbol: DFNB6)
  See TMIE-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
Transmembrane Inner Ear1 2
DFNB61 2 5
Deafness, Autosomal Recessive 61
Transmembrane Inner Ear Expressed Protein2
Transmembrane Inner Ear Protein2

External Ids:    HGNC: 308001   Entrez Gene: 2592362   Ensembl: ENSG000001815857   OMIM: 6072375   UniProtKB: Q8NEW73   

Export aliases for TMIE gene to outside databases

Previous GC identifers: GC03U990253 GC03M046292 GC03P046562 GC03P046703


(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 TMIE Gene:
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for
normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia
bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known
as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired
inherited hearing impairment. (provided by RefSeq, Mar 2009)

GeneCards Summary for TMIE Gene:
TMIE (transmembrane inner ear) is a protein-coding gene. Diseases associated with TMIE include deafness, autosomal recessive 6, and dfnb 6 nonsyndromic hearing loss and deafness.

UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7
Function: Unknown. The protein may play some role in a cellular membrane location. May reside within an internal
membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking.
Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for
other molecules through its highly charged C-terminal domain




(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 at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMIE gene promoter:
         Max1   NF-1   GCNF   c-Ets-1   GCNF-1   GCNF-2   AP-2alpha   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMIE promoter sequence
   Search Chromatin IP Primers for TMIE

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


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

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P046717:  view genomic region     (about GC identifiers)

Start:
46,742,823 bp from pter      End:
46,752,413 bp from pter
Size:
9,591 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: TMIE_HUMAN, Q8NEW7 (See protein sequence)
Recommended Name: Transmembrane inner ear expressed protein precursor  
Size: 156 amino acids; 17241 Da
Secondary accessions: A0AV93 A8K0R0

Explore the universe of human proteins at neXtProt for TMIE: NX_Q8NEW7

Explore proteomics data for TMIE at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_671729.2  
    ENSEMBL proteins: 
     ENSP00000324775  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q8NEW7


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMIE_HUMAN, Q8NEW7
    Function: Unknown. The protein may play some role in a cellular membrane location. May reside within an internal
    membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking.
    Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for
    other molecules through its highly charged C-terminal domain

    Phenotypes:
         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tmie):

     behavior/neurological  growth/size/body  hearing/vestibular/ear  nervous system 

    Find genes that share phenotypes with TMIE           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMIE
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    hsa-miR-214 hsa-miR-3194-5p hsa-miR-4251 hsa-miR-3116 hsa-miR-761 hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidTMIE 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMIE

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    (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
    TMIE_HUMAN, Q8NEW7: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMIE           About GenesLikeMe


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

        Search GeneGlobe Interaction Network for TMIE

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IEA--
    GO:0042472inner ear morphogenesis IEA--

    Find genes that share ontologies with TMIE           About GenesLikeMe



    (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 TMIE



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TMIE gene: 
    NM_147196.2  

    Unigene Cluster for TMIE:

    Transmembrane inner ear
    Hs.185777  [show with all ESTs]
    Unigene Representative Sequence: NM_147196
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000326431(uc010hjj.1 uc010hjk.1)
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate TMIE:
    hsa-miR-214 hsa-miR-3194-5p hsa-miR-4251 hsa-miR-3116 hsa-miR-761 hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidTMIE 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMIE
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    GenScript: all cDNA clones in your preferred vector: TMIE (NM_147196)
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      QuantiTect SYBR Green Assays in human, mouse, rat TMIE
      QuantiFast Probe-based Assays in human, mouse, rat TMIE

    Additional mRNA sequence: 

    AY081842.1 BC126258.1 BC126260.1 

    1 DOTS entry:

    DT.97840264 

    24 AceView cDNA sequences:

    BM696323 BM699634 BM714278 BM709303 BM670445 BM700260 BM713925 BM700515 
    BM675932 BX090034 BU738098 BM669459 BQ231317 CD674784 AY081842 AW054904 
    BM676541 AI480125 BU740324 AA319123 NM_147196 BM665883 F22661 BU738758 

    GeneLoc Exon Structure


    (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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    TMIE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCCCGAG
    TMIE Expression
    About this image


    TMIE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum
     
     Eye (Sensory Organs)
    TMIE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMIE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.185777

    UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7
    Tissue specificity: Expressed in many tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMIE

    (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 chordates.

    Orthologs for TMIE gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmie1 , 5 transmembrane inner ear1, 5 90.48(n)1
    95.24(a)1
      9 (60.79 cM)5
    207761  NM_146260.21  NP_666372.11 
     1108657115 
    chicken
    (Gallus gallus)
    Aves TMIE6
    transmembrane inner ear
    39(a)
    1 ↔ 1
    2(3268001-3297394)
    lizard
    (Anolis carolinensis)
    Reptilia TMIE6
    transmembrane inner ear
    54(a)
    1 ↔ 1
    GL343449.1(343348-343911)
    zebrafish
    (Danio rerio)
    Actinopterygii tmie6
    transmembrane inner ear
    37(a)
    1 ↔ 1
    2(2025945-2081419) ENSDARG00000069423


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 TMIE (see all 228)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs801741041,2
    C,F--46671517(+) CTGAGG/ATTATT 1 -- us2k11Minor allele frequency- A:0.04NA 120
    rs1829944471,2
    --46671538(+) ACTGCA/TCTGAG 1 -- us2k10--------
    rs602452061,2
    C--46671762(+) ATCTCG/AGGGAA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs765424211,2
    C,F--46671781(+) GACACA/GTATGA 1 -- us2k11Minor allele frequency- G:0.19WA 118
    rs1424800471,2
    C--46671816(+) ACTAGA/C/GCTTGC 1 -- us2k10--------
    rs98677301,2
    C,F,H--46671914(+) AGAGCG/ACTGCC 1 -- us2k123Minor allele frequency- A:0.22NS EA NA WA CSA 2349
    rs746694751,2
    C,F--46671951(+) CCATAT/CTCATT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs761408701,2
    F--46671969(+) ATCATC/TCTCAC 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1876534261,2
    --46672121(+) CCTCCC/TTGACT 1 -- us2k10--------
    rs1924323531,2
    --46672295(+) TACCTC/GCCACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMIE (46742823 - 46752413 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TMIE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725237CNV Deletion23290073
    esv2725236CNV Deletion23290073
    nsv876743CNV Loss21882294
    dgv5128n71CNV Loss21882294
    nsv428417CNV Loss18775914
    nsv516623CNV Loss19592680
    dgv5127n71CNV Gain21882294
    dgv1455e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): TMIE
    Locus Specific Mutation Databases (LSDB): TMIE

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMIE
    DNA2.0 Custom Variant and Variant Library Synthesis for TMIE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607237   
    OMIM disorders: 600971  
    UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7
  • Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for TMIE:    
    About MalaCards
    deafness, autosomal recessive 6    dfnb 6 nonsyndromic hearing loss and deafness    deafness and hereditary hearing loss    deafness, autosomal recessive 76

    1 disease from the University of Copenhagen DISEASES database for TMIE:
    Nonsyndromic deafness

    Find genes that share disorders with TMIE           About GenesLikeMe

    Genetic Association Database (GAD): TMIE
    Human Genome Epidemiology (HuGE) Navigator: TMIE (1 document)

    Export disorders for TMIE 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 TMIE gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with TMIE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. (PubMed id 12145746)1, 2, 3, 9 Naz S.... Wilcox E.R. (Am. J. Hum. Genet. 2002)
    2. Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. (PubMed id 12140191)1, 3, 9 Mitchem K.L....Kohrman D.C. (Hum. Mol. Genet. 2002)
    3. Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss. (PubMed id 20206386)1, 4 Yang J.J....Li S.Y. (Int. J. Pediatr. Otorhinolaryngol. 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. (PubMed id 19438934)1, 9 Sirmaci A....Tekin M. (Clin. Genet. 2009)
    6. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. (PubMed id 16389551)1 Santos R.L....Leal S.M. (J. Mol. Med. 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9. (PubMed id 14727813)1 Cho K.I....Ryoo Z.Y. (Comp. Med. 2003)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 259236 HGNC: 30800 AceView: TMIE Ensembl:ENSG00000181585 euGenes: HUgn259236
    ECgene: TMIE H-InvDB: TMIE

    (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 TMIE Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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