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    TMIE transmembrane inner ear [ Homo sapiens (human) ]

    Gene ID: 259236, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMIEprovided by HGNC
    Official Full Name
    transmembrane inner earprovided by HGNC
    Primary source
    HGNC:HGNC:30800
    See related
    Ensembl:ENSG00000181585 MIM:607237; AllianceGenome:HGNC:30800
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DFNB6
    Summary
    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]
    Expression
    Broad expression in adrenal (RPKM 2.0), brain (RPKM 1.3) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMIE in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (46693778..46710886)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (46709892..46726971)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46735268..46752376)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46659485-46659985 Neighboring gene family with sequence similarity 240 member A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46671119-46671867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46702285-46702880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46703861-46704506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46713160-46713970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46717270-46717818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46720185-46720684 Neighboring gene ALS2 C-terminal like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46733733-46734524 Neighboring gene Sharpr-MPRA regulatory region 4085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46736106-46736895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:46737985-46738484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:46747903-46748660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14293 Neighboring gene serine protease 50 Neighboring gene serine protease 46, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness. Rayat S, et al. BMC Med Genomics, 2022 Jun 16. PMID 35710363, Free PMC Article
    2. Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss. Yang JJ, et al. Int J Pediatr Otorhinolaryngol, 2010 May. PMID 20206386
    3. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. Sirmaci A, et al. Clin Genet, 2009 Jun. PMID 19438934
    4. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. Santos RL, et al. J Mol Med (Berl), 2006 Mar. PMID 16389551, Free PMC Article
    5. Genes responsible for human hereditary deafness: symphony of a thousand. Petit C. Nat Genet, 1996 Dec. PMID 8944017

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.
      Title: Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.
    2. Description of the spectrum of mutations in TMIE in 374 families with autosomal recessive, non-syndromic hearing loss from India.
      Title: Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
    3. We suggest that a missense variant and one promoter variant is de novo and may be a risk factor for the development of hearing loss in Taiwanese
      Title: Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.
    5. p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL)
      Title: A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
    6. identification of 5 different homozygous recessive mutations in a novel gene, TMIE= transmembrane inner ear expressed gene, in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6
      Title: Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
    7. genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus
      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.
    8. The circling mouse is a potential animal model for DFNB6 deafness in humans.
      Title: Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 6
    MedGen: C1832992 OMIM: 600971 GeneReviews: Genetic Hearing Loss Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in inner ear morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane inner ear expressed protein
    Names
    transmembrane inner ear protein

    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.

    Genomic

    1. NG_011628.2 RefSeqGene

      Range
      12616..22110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370524.1 → NP_001357453.1  transmembrane inner ear expressed protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC134504
      Consensus CDS
      CCDS93259.1
      UniProtKB/TrEMBL
      A0A2R8YDZ8
      Related
      ENSP00000495111.1, ENST00000644830.1
      Conserved Domains (1) summary
      pfam16038
      Location:1 → 69
      TMIE; TMIE protein

    2. NM_001370525.1 → NP_001357454.1  transmembrane inner ear expressed protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC134504
      Consensus CDS
      CCDS93259.1
      UniProtKB/TrEMBL
      A0A2R8YDZ8
      Conserved Domains (1) summary
      pfam16038
      Location:1 → 69
      TMIE; TMIE protein

    3. NM_147196.3 → NP_671729.2  transmembrane inner ear expressed protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_671729.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC134504
      Consensus CDS
      CCDS43081.1
      UniProtKB/Swiss-Prot
      A0AV93, A8K0R0, Q8NEW7
      Related
      ENSP00000494576.2, ENST00000643606.3
      Conserved Domains (1) summary
      pfam16038
      Location:46 → 122
      TMIE; TMIE protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      46693778..46710886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      46709892..46726971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEW7.2 GenPept UniProtKB/Swiss-Prot:Q8NEW7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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