TMIE Gene
protein-coding GIFtS: 46
GCID: GC03P046717
|
|
transmembrane inner ear(Previous names: deafness, autosomal recessive 6 )
(Previous symbol: DFNB6)
| |
Aliases
for TMIE gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Transmembrane Inner Ear1 2 | | DFNB61 2 5 | | Deafness, Autosomal Recessive 61 | | Transmembrane Inner Ear Expressed Protein2 | | Transmembrane Inner Ear Protein2 |
Export aliases for TMIE gene to outside databasesPrevious GC identifers: GC03U990253 GC03M046292 GC03P046562 GC03P046703 |
Summaries
for TMIE gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TMIE:
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normalpostnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. Thisgene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomalrecessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearingimpairment. (provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7Function: Unknown. The protein may play some role in a cellular membrane location. May reside within an internalmembrane 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 othermolecules through its highly charged C-terminal domain
|
Genomic Views
for TMIE gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TMIE gene promoter:
Max1 NF-1 GCNF c-Ets-1 GCNF-1 GCNF-2 AP-2alpha c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for TMIE
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMIE |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21TMIE Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P046717: view genomic region
(about GC identifiers)
Start:
|
46,742,823 bp from pter |
End:
|
46,752,413 bp from pter |
Size:
|
9,591 bases |
Orientation:
|
plus strand |
|
Proteins
for TMIE gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7 (See
protein sequence)Recommended Name: Transmembrane inner ear expressed protein precursor Size: 156 amino acids; 17241 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Secondary accessions: A0AV93 A8K0R0Explore the universe of human proteins at neXtProt for TMIE: NX_Q8NEW7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NEW7
TMIE Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_671729.2
ENSEMBL proteins: ENSP00000324775
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
TMIE for ontologies About GeneDecksing
TMIE Antibody Products:
Assay Products for TMIE: |
Protein
Domains /
Families
for TMIE gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q8NEW7 |
Function
for TMIE gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7Function: Unknown. The protein may play some role in a cellular membrane location. May reside within an internalmembrane 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 othermolecules through its highly charged C-terminal domain
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMIE (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMIE (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: TMIE (NM_147196) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMIE | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMIE |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMIE |
Animal Models:
4 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Tmie):
TMIE for phenotypes About GeneDecksing
|
Pathways & Interactions
for TMIE gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMIE
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007605 | sensory perception of sound |
IEA | -- | | GO:0042472 | inner ear morphogenesis |
IEA | -- |
TMIE for ontologies About GeneDecksing
|
Drugs & Compounds
for TMIE gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TMIE
Search CenterWatch for drugs/clinical trials and news about TMIE
|
Transcripts
for TMIE gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TMIE gene: NM_147196.2 Unigene Cluster for TMIE: Transmembrane inner ear Hs.185777 [show with all ESTs]Unigene Representative Sequence: NM_1471961 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000326431(uc010hjj.1 uc010hjk.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMIE (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMIE (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: TMIE (NM_147196) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMIE | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMIE |
Additional cDNA sequence: AY081842.1 BC126258.1 BC126260.1 1 DOTS entry: DT.97840264 24 AceView cDNA sequences: BM670445 BM675932 BM700260 BM696323 BM699634 BM709303 BM714278 BM700515 BM713925 AY081842 CD674784 BX090034 BQ231317 BU738098 F22661 BM676541 BM669459 BU740324 NM_147196 AI480125 AW054904 BU738758 AA319123 BM665883
GeneLoc Exon Structure
|
Expression
for TMIE gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TMIE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCCCCGAG
About this image
See TMIE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMIE
SOURCE GeneReport for Unigene cluster: Hs.185777
UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7Tissue specificity: Expressed in many tissues
SABiosciences Custom PCR Arrays for TMIE
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMIE
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TMIE | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMIE | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMIE | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMIE |
Orthologs
for TMIE gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for TMIE gene from 4/9 species (see all 9) About this table
ENSEMBL Gene Tree for TMIE (if available)
TreeFam Gene Tree for TMIE (if available) |
Paralogs
for TMIE gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for TMIE gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TMIE (46742823 - 46752413 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TMIE
1 CNV: 3428
Human Gene Mutation Database (HGMD): TMIE
Locus Specific Mutation Databases (LSDB): TMIE
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMIE |
|
Disorders
/ Diseases
for TMIE gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TMIE for disorders About GeneDecksing
OMIM gene information: 607237
OMIM disorders: 600971
UniProtKB/Swiss-Prot: TMIE_HUMAN, Q8NEW7
Defects in TMIE are the cause of deafness autosomal recessive type 6 (DFNB6) [MIM:600971]. DFNB6 is a form ofsensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, thenerve pathways to the brain, or the area of the brain that receives sound information
3  diseases for TMIE: About MalaCardsdeafness, autosomal recessive 6 hearing loss sensorineural hearing loss
1 disease from the University of Copenhagen DISEASES database for TMIE:Nonsyndromic deafness Human Genome Epidemiology (HuGE) Navigator: TMIE (1 document)
Export disorders for TMIE gene to outside databases
|
Publications
for TMIE gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TMIE gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with TMIE) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. (PubMed id 12145746)1, 2, 3, 9 Naz S.... Wilcox E.R. (2002)
- 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. (PubMed id 12140191)1, 3, 9 Mitchem K.L....Kohrman D.C. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A founder TMIE mutation is a frequent cause of hearin g loss in southeastern Anatolia. (PubMed id 19438934)1, 9 Sirmaci A....Tekin M. (2009)
- Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss. (PubMed id 20206386)1 Yang J.J....Li S.Y. (2010)
- Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. (PubMed id 16389551)1 Santos R.L....Leal S.M. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9. (PubMed id 14727813)1 Cho K.I....Ryoo Z.Y. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
|
External Searches for TMIE gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TMIE gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TMIE gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TMIE gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TMIE | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TMIE gene:
Search GeneIP for patents involving TMIE
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TMIE gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for TMIE | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMIE | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMIE | | | OriGene Protein Over-expression Lysate for TMIE | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TMIE | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMIE | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMIE | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for TMIE | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for TMIE | | OriGene Custom Protein Services for TMIE | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMIE | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMIE | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMIE | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMIE | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMIE | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMIE |
| |
 |  |  |  | |
| | | | Search Tocris compounds for TMIE |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | TMIE Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMIE |
|  |  |  | | | | ThermoFisher Antibodies for TMIE |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMIE |
|
|
|
|
