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Aliases for TMIE Gene

Aliases for TMIE Gene

  • Transmembrane Inner Ear 2 3 5
  • Deafness, Autosomal Recessive 6 2
  • Transmembrane Inner Ear Protein 3
  • DFNB6 3

External Ids for TMIE Gene

Previous HGNC Symbols for TMIE Gene

  • DFNB6

Previous GeneCards Identifiers for TMIE Gene

  • GC03U990253
  • GC03M046292
  • GC03P046562
  • GC03P046703

Summaries for TMIE Gene

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 for TMIE Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMIE Gene

Genomics for TMIE Gene

Regulatory Elements for TMIE Gene

Enhancers for TMIE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMIE on UCSC Golden Path with GeneCards custom track

Promoters for TMIE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMIE on UCSC Golden Path with GeneCards custom track

Genomic Location for TMIE Gene

Chromosome:
3
Start:
46,693,842 bp from pter
End:
46,710,923 bp from pter
Size:
17,082 bases
Orientation:
Plus strand

Genomic View for TMIE Gene

Genes around TMIE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMIE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMIE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMIE Gene

Proteins for TMIE Gene

  • Protein details for TMIE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEW7-TMIE_HUMAN
    Recommended name:
    Transmembrane inner ear expressed protein
    Protein Accession:
    Q8NEW7
    Secondary Accessions:
    • A0AV93
    • A8K0R0

    Protein attributes for TMIE Gene

    Size:
    156 amino acids
    Molecular mass:
    17241 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TMIE Gene

Proteomics data for TMIE Gene at MOPED

Post-translational modifications for TMIE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMIE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMIE Gene

Domains & Families for TMIE Gene

Protein Domains for TMIE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMIE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMIE: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMIE Gene

Function for TMIE Gene

Molecular function for TMIE Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with TMIE: view

Human Phenotype Ontology for TMIE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMIE Gene

Localization for TMIE Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMIE Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMIE Gene COMPARTMENTS Subcellular localization image for TMIE gene
Compartment Confidence
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for TMIE Gene

Pathways & Interactions for TMIE Gene

SuperPathways for TMIE Gene

No Data Available

Interacting Proteins for TMIE Gene

Gene Ontology (GO) - Biological Process for TMIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with TMIE: view

No data available for Pathways by source and SIGNOR curated interactions for TMIE Gene

Drugs & Compounds for TMIE Gene

No Compound Related Data Available

Transcripts for TMIE Gene

mRNA/cDNA for TMIE Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMIE Gene

Transmembrane inner ear:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMIE Gene

No ASD Table

Relevant External Links for TMIE Gene

GeneLoc Exon Structure for
TMIE
ECgene alternative splicing isoforms for
TMIE

Expression for TMIE Gene

mRNA expression in normal human tissues for TMIE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMIE Gene

This gene is overexpressed in Pituitary (x5.0) and Brain - Hypothalamus (x5.0).

SOURCE GeneReport for Unigene cluster for TMIE Gene Hs.185777

mRNA Expression by UniProt/SwissProt for TMIE Gene

Q8NEW7-TMIE_HUMAN
Tissue specificity: Expressed in many tissues.
genes like me logo Genes that share expression patterns with TMIE: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TMIE Gene

Orthologs for TMIE Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMIE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMIE 35
  • 93.78 (n)
  • 98.51 (a)
TMIE 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMIE 35
  • 91.44 (n)
  • 95.27 (a)
TMIE 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmie 35
  • 90.48 (n)
  • 95.24 (a)
Tmie 16
Tmie 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMIE 35
  • 99.78 (n)
  • 99.35 (a)
TMIE 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmie 35
  • 89.34 (n)
  • 95.24 (a)
oppossum
(Monodelphis domestica)
Mammalia TMIE 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMIE 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMIE 36
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmie 36
  • 37 (a)
OneToOne
Species with no ortholog for TMIE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMIE Gene

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

Paralogs for TMIE Gene

No data available for Paralogs for TMIE Gene

Variants for TMIE Gene

Sequence variations from dbSNP and Humsavar for TMIE Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs28942096 Deafness, autosomal recessive, 6 (DFNB6) 46,709,155(+) ACTGT(C/T)GTGTG reference, missense
rs28942097 Deafness, autosomal recessive, 6 (DFNB6) 46,709,164(+) TGCCA(C/T)GGACC reference, missense
rs28941781 Deafness, autosomal recessive, 6 (DFNB6) 46,709,188(+) AAGCC(C/T)GGTAC reference, missense
rs7430680 -- 46,701,259(+) GGGGC(A/T)GGGAG intron-variant, upstream-variant-2KB
rs7431776 -- 46,702,644(+) AGGGG(C/T)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMIE Gene

Variant ID Type Subtype PubMed ID
dgv5127n71 CNV Gain 21882294
nsv516623 CNV Loss 19592680
dgv1455e1 CNV Complex 17122850
nsv428417 CNV Loss 18775914
dgv5128n71 CNV Loss 21882294
nsv876743 CNV Loss 21882294
esv2725236 CNV Deletion 23290073
esv2725237 CNV Deletion 23290073

Variation tolerance for TMIE Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMIE Gene

HapMap Linkage Disequilibrium report
TMIE
Human Gene Mutation Database (HGMD)
TMIE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMIE Gene

Disorders for TMIE Gene

MalaCards: The human disease database

(5) MalaCards diseases for TMIE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 6
  • deafness, autosomal recessive, 6
dfnb 6 nonsyndromic hearing loss and deafness
  • dfnb6 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive
  • autosomal recessive deafness
hearing loss/deafness
- elite association - COSMIC cancer census association via MalaCards
Search TMIE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TMIE_HUMAN
  • 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. {ECO:0000269 PubMed:12145746}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMIE

Genetic Association Database (GAD)
TMIE
Human Genome Epidemiology (HuGE) Navigator
TMIE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMIE
genes like me logo Genes that share disorders with TMIE: view

No data available for Genatlas for TMIE Gene

Publications for TMIE Gene

  1. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. (PMID: 12145746) Naz S. … Wilcox E.R. (Am. J. Hum. Genet. 2002) 2 3 4 23 67
  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. (PMID: 12140191) Mitchem K.L. … Kohrman D.C. (Hum. Mol. Genet. 2002) 2 3 23
  3. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. (PMID: 19438934) Sirmaci A. … Tekin M. (Clin. Genet. 2009) 3 23
  4. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. (PMID: 24416283) Ganapathy A. … Anand A. (PLoS ONE 2014) 3
  5. Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss. (PMID: 20206386) Yang J.J. … Li S.Y. (Int. J. Pediatr. Otorhinolaryngol. 2010) 3

Products for TMIE Gene

Sources for TMIE Gene

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