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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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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
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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

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