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    Tmie transmembrane inner ear [ Mus musculus (house mouse) ]

    Gene ID: 20776, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tmieprovided by MGI
    Official Full Name
    transmembrane inner earprovided by MGI
    Primary source
    MGI:MGI:2159400
    See related
    Ensembl:ENSMUSG00000049555 AllianceGenome:MGI:2159400
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    sr; Mm.87012; 5131400L21Rik
    Summary
    Acts upstream of or within inner ear morphogenesis and sensory perception of sound. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 6 and sensorineural hearing loss. Orthologous to human TMIE (transmembrane inner ear). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in liver adult (RPKM 6.5), thymus adult (RPKM 4.3) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmie in Genome Data Viewer
    Location:
    9 F2; 9 60.79 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (110694755..110709141, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (110865687..110880073, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene serine protease 46 Neighboring gene serine protease 50 Neighboring gene ALS2 C-terminal like Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110810109-110810292 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110810303-110810412 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110810673-110810995 Neighboring gene family with sequence similarity 240 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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

    Bibliography

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    Related articles in PubMed

    1. Sequence variations and accessory proteins adapt TMC functions to distinct sensory modalities. Jiang Q, et al. Neuron, 2024 Sep 4. PMID 38986620,
    2. The spinner mouse. DEOL MS, et al. J Hered, 1962 May-Jun. PMID 14027064
    3. The Mechanotransduction Channel and Organic Cation Transporter Are Critical for Cisplatin Ototoxicity in Murine Hair Cells. Li J, et al. Front Mol Neurosci, 2022. PMID 35221917, Free PMC Article
    4. Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. Vargas GA, et al. J Clin Invest, 1996 Jun 1. PMID 8647934, Free PMC Article
    5. Ectopic expression of tmie transgene induces various recovery levels of behavior and hearing ability in the circling mouse. Shin MJ, et al. Biochem Biophys Res Commun, 2008 Sep 12. PMID 18586001

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alternative Splicing of Three Genes Encoding Mechanotransduction-Complex Proteins in Auditory Hair Cells.
      Title: Alternative Splicing of Three Genes Encoding Mechanotransduction-Complex Proteins in Auditory Hair Cells.
    2. TMIE Defines Pore and Gating Properties of the Mechanotransduction Channel of Mammalian Cochlear Hair Cells.
      Title: TMIE Defines Pore and Gating Properties of the Mechanotransduction Channel of Mammalian Cochlear Hair Cells.
    3. This study demonistrated that TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.
      Title: TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.
    4. Tmie is required for maturation and maintenance of hair cells.
      Title: tmie Is required for gentamicin uptake by the hair cells of mice.
    5. These results clearly indicate that tmie protein plays an important role when the appropriate expression level of tmie was expressed in the inner ear.
      Title: Ectopic expression of tmie transgene induces various recovery levels of behavior and hearing ability in the circling mouse.
    6. 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.
      Title: 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.
    7. characterized the circling mutation as a 40-kilobase deletion that includes the transmembrane inner ear (tmie) gene
      Title: The circling mouse (C57BL/6J-cir) has a 40-kilobase genomic deletion that includes the transmembrane inner ear (tmie) gene.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in inner ear morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane inner ear expressed protein
    Names
    spinner

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    mRNA and Protein(s)

    1. NM_146260.3 → NP_666372.1  transmembrane inner ear expressed protein precursor

      See identical proteins and their annotated locations for NP_666372.1

      Status: VALIDATED

      Source sequence(s)
      AC139378
      Consensus CDS
      CCDS23578.1
      UniProtKB/Swiss-Prot
      Q8K467
      UniProtKB/TrEMBL
      B2RSF0
      Related
      ENSMUSP00000060148.5, ENSMUST00000050958.9
      Conserved Domains (1) summary
      pfam16038
      Location:47 → 132
      TMIE; TMIE protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      110694755..110709141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244163.1 → XP_030100023.1  transmembrane inner ear expressed protein isoform X2

      UniProtKB/Swiss-Prot
      Q8K467
      UniProtKB/TrEMBL
      B2RSF0
      Conserved Domains (1) summary
      pfam16038
      Location:47 → 132
      TMIE; TMIE protein

    2. XM_006512008.4 → XP_006512071.1  transmembrane inner ear expressed protein isoform X2

      See identical proteins and their annotated locations for XP_006512071.1

      UniProtKB/Swiss-Prot
      Q8K467
      UniProtKB/TrEMBL
      B2RSF0
      Conserved Domains (1) summary
      pfam16038
      Location:47 → 132
      TMIE; TMIE protein

    3. XM_006512007.5 → XP_006512070.1  transmembrane inner ear expressed protein isoform X2

      See identical proteins and their annotated locations for XP_006512070.1

      UniProtKB/Swiss-Prot
      Q8K467
      UniProtKB/TrEMBL
      B2RSF0
      Conserved Domains (1) summary
      pfam16038
      Location:47 → 132
      TMIE; TMIE protein

    4. XM_036154761.1 → XP_036010654.1  transmembrane inner ear expressed protein isoform X2

      UniProtKB/Swiss-Prot
      Q8K467
      UniProtKB/TrEMBL
      B2RSF0
      Conserved Domains (1) summary
      pfam16038
      Location:47 → 132
      TMIE; TMIE protein

    5. XM_006512014.5 → XP_006512077.1  transmembrane inner ear expressed protein isoform X3

      Conserved Domains (1) summary
      pfam16038
      Location:1 → 78
      TMIE; TMIE protein

    6. XM_036154760.1 → XP_036010653.1  transmembrane inner ear expressed protein isoform X1

      Conserved Domains (1) summary
      pfam16038
      Location:114 → 174
      TMIE; TMIE protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K467.1 GenPept UniProtKB/Swiss-Prot:Q8K467

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