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Aliases for TMIE Gene

Aliases for TMIE Gene

  • Transmembrane Inner Ear 2 3 5
  • Transmembrane Inner Ear Expressed Protein 3
  • 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 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.

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.

Additional gene information for TMIE Gene

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

Genomics for TMIE Gene

GeneHancer (GH) Regulatory Elements for TMIE Gene

Promoters and enhancers for TMIE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I046690 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 152 7.2 RB1 NFIB SIN3A ZBTB40 RAD21 YY1 ZNF335 EGR1 ZNF143 RCOR1 ALS2CL TMIE PRSS50 LRRC2 PRSS45
GH03I046700 Promoter/Enhancer 1.1 EPDnew Ensembl 550.4 +7.5 7540 1.2 RFX1 ZNF740 BMI1 NR2F2 NFIC SCRT2 VEZF1 CHD2 EZH2 ZBTB20 TMIE PRSS45 PRSS50 ALS2CL
GH03I046505 Enhancer 0.2 FANTOM5 2 -187.9 -187874 0.3 LTF TDGF1 PTH1R MYL3 TMIE RTP3 LOC105377070
GH03I046699 Enhancer 0.8 Ensembl ENCODE 0.4 +6.2 6218 0.7 RXRA MAX ZIC2 RAD21 NR2F2 GABPA SCRT2 HNF4A SPI1 PRSS45 ALS2CL TMIE PRSS50
GH03I046705 Enhancer 0.8 ENCODE 0.4 +11.3 11344 0.2 CTCF RB1 ARNT SIN3A RAD21 RFX5 CC2D1A ARID2 ZNF207 SMC3 TMIE PRSS50
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMIE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMIE gene promoter:

Genomic Locations for TMIE Gene

Genomic Locations for TMIE Gene
chr3:46,693,842-46,710,923
(GRCh38/hg38)
Size:
17,082 bases
Orientation:
Plus strand
chr3:46,742,823-46,752,413
(GRCh37/hg19)

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:
    • Interacts with TOMT.

neXtProt entry for TMIE Gene

Post-translational modifications for TMIE Gene

No Post-translational modifications

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

Gene Families for TMIE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

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 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.

Phenotypes From GWAS Catalog for TMIE Gene

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMIE gene
Compartment Confidence
plasma membrane 2
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMIE: view

Pathways & Interactions 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 --
GO:0042472 inner ear morphogenesis 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

(2) 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of TMIE Gene:

TMIE

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.

Evidence on tissue expression from TISSUES for TMIE Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMIE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TMIE: view

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
chimpanzee
(Pan troglodytes)
Mammalia TMIE 33 34
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia TMIE 33 34
  • 93.78 (n)
dog
(Canis familiaris)
Mammalia TMIE 33 34
  • 91.44 (n)
mouse
(Mus musculus)
Mammalia Tmie 33 16 34
  • 90.48 (n)
rat
(Rattus norvegicus)
Mammalia Tmie 33
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia TMIE 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMIE 34
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMIE 34
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmie 34
  • 37 (a)
OneToOne
Species where no ortholog for TMIE was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1016748156 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 46,710,593(+) G/A 3_prime_UTR_variant
rs10578999 benign, likely-benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 46,709,584(+) AAGAAGAAGAAGAAGAAGAAGAAGAAG/AAGAAGAAGAAGAAGAAG/AAGAAGAAGAAGAAGAAGAAG/AAGAAGAAGAAGAAGAAGAAGAAG/AAGAAGAAGAAGAAGAAGAAGAAGAAGAAG/AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG coding_sequence_variant, inframe_deletion, inframe_insertion
rs188085072 uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 46,705,902(+) C/T coding_sequence_variant, missense_variant
rs267607120 pathogenic, Deafness, autosomal recessive 6 46,705,866(+) G/A coding_sequence_variant, stop_gained
rs28941781 pathogenic, Deafness, autosomal recessive 6, Deafness, autosomal recessive, 6 (DFNB6) [MIM:600971] 46,709,188(+) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv954478 CNV deletion 24416366
nsv590179 CNV loss 21841781
nsv516623 CNV loss 19592680
nsv428417 CNV loss 18775914
esv3596066 CNV gain 21293372
esv2759147 CNV loss 17122850
esv2725237 CNV deletion 23290073
esv2725236 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)

Additional Variant Information for TMIE Gene

Human Gene Mutation Database (HGMD)
TMIE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMIE

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

Disorders for TMIE Gene

MalaCards: The human disease database

(6) MalaCards diseases for TMIE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 6
  • dfnb6
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive 67
  • dfnb67
deafness, autosomal recessive
auditory system disease
  • ear and mastoid disease
- 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.

Additional Disease Information for TMIE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 ER (American journal of human genetics 2002) 2 3 4 22 58
  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 KL … Kohrman DC (Human molecular genetics 2002) 2 3 22 58
  3. Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss. (PMID: 20206386) Yang JJ … Li SY (International journal of pediatric otorhinolaryngology 2010) 3 44 58
  4. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. (PMID: 19438934) Sirmaci A … Tekin M (Clinical genetics 2009) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TMIE Gene

Sources for TMIE Gene

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