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

Gene ID: 20776, updated on 2-Nov-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, Nov 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 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 (39) 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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