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TMC1 Gene

protein-coding   GIFtS: 49
GCID: GC09P075137

Transmembrane Channel-Like 1

(Previous names: transmembrane, cochlear expressed, 1)
(Previous symbols: DFNA36, DFNB7, DFNB11)
  See TMC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Channel-Like 11 2     Transmembrane, Cochlear Expressed, 11 2
DFNA361 2 5     Transmembrane Cochlear-Expressed Protein 12 3
DFNB111 2 5     Transmembrane Channel-Like Protein 12
DFNB71 2 5     

External Ids:    HGNC: 165131   Entrez Gene: 1175312   Ensembl: ENSG000001650917   OMIM: 6067065   UniProtKB: Q8TDI83   

Export aliases for TMC1 gene to outside databases

Previous GC identifers: GC09P066275 GC09P067087 GC09P068801 GC09P070688 GC09P070593 GC09P072366 GC09P074326 GC09P074211 GC09P044959


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TMC1 Gene:
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific
function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells.
Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual
deafness. (provided by RefSeq, Jul 2008)

GeneCards Summary for TMC1 Gene:
TMC1 (transmembrane channel-like 1) is a protein-coding gene. Diseases associated with TMC1 include toxic megacolon, and deafness, autosomal recessive 7. An important paralog of this gene is TMC7.

UniProtKB/Swiss-Prot: TMC1_HUMAN, Q8TDI8
Function: Probable ion channel required for the normal function of cochlear hair cells (By similarity)

Gene Wiki entry for TMC1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TMC1 gene promoter:
         Sox5   AP-1   CUTL1   POU6F1 (c2)   Cdc5   E47   Gfi-1   Hand1   Hlf   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMC1 promoter sequence
   Search Chromatin IP Primers for TMC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.12   Ensembl cytogenetic band:  9q21.13   HGNC cytogenetic band: 9q21

TMC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMC1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P075137:  view genomic region     (about GC identifiers)

Start:
75,136,717 bp from pter      End:
75,451,267 bp from pter
Size:
314,551 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TMC1_HUMAN, Q8TDI8 (See protein sequence)
Recommended Name: Transmembrane channel-like protein 1  
Size: 760 amino acids; 87768 Da
Sequence caution: Sequence=BAC05351.1; Type=Erroneous termination; Positions=744; Note=Translated as Arg;
Sequence=BAC05351.1; Type=Frameshift; Positions=588;
Secondary accessions: A8MVZ2 B1AM91

Explore the universe of human proteins at neXtProt for TMC1: NX_Q8TDI8

Explore proteomics data for TMC1 at MOPED


See TMC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_619636.2  
ENSEMBL proteins: 
 ENSP00000297784   ENSP00000341433   ENSP00000379538  

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antibodies-online peptides for TMC1

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR012496 TMC

Graphical View of Domain Structure for InterPro Entry Q8TDI8

ProtoNet protein and cluster: Q8TDI8

1 Blocks protein domain: IPB012496 TMC

UniProtKB/Swiss-Prot: TMC1_HUMAN, Q8TDI8
Similarity: Belongs to the TMC family


Find genes that share domains with TMC1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: TMC1_HUMAN, Q8TDI8
Function: Probable ion channel required for the normal function of cochlear hair cells (By similarity)

Phenotypes:
     2 GenomeRNAi human phenotypes for TMC1:

 Increased gamma-H2AX phosphory  Increased number of cells in m 

     5 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Tmc1):
 behavior/neurological  hearing/vestibular/ear  integument  nervous system  vision/eye 

Find genes that share phenotypes with TMC1           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for TMC1

miRNA
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Block miRNA regulation of human, mouse, rat TMC1 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate TMC1:
hsa-miR-3163 hsa-miR-1287
SwitchGear 3'UTR luciferase reporter plasmidTMC1 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector: TMC1 (NM_138691)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMC1

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TMC1_HUMAN, Q8TDI8: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
endoplasmic reticulum1
nucleus1
peroxisome1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0009897external side of plasma membrane IEA--
GO:0016021integral component of membrane IEA--
GO:0032426stereocilium bundle tip IEA--

Find genes that share ontologies with TMC1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMC1
Interactions:

    Search GeneGlobe Interaction Network for TMC1

5 Interacting proteins for TMC1 (Q8TDI83) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
GABARAPL2P605203I2D: score=1 
MAP1LC3BQ9GZQ83I2D: score=1 
NSMAFQ926363I2D: score=1 
PRKAA1Q131313I2D: score=1 
--Q6FG913I2D: score=1 
About this table

Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006811ion transport IEA--
GO:0050910detection of mechanical stimulus involved in sensory perception of sound IEA--
GO:0060005vestibular reflex IEA--
GO:0060117auditory receptor cell development IEA--

Find genes that share ontologies with TMC1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TMC1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TMC1 gene: 
NM_138691.2  

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000297784(uc010moz.1 uc004aiz.1) ENST00000497073 ENST00000492418
ENST00000486417 ENST00000469455 ENST00000340019(uc004aja.1 uc004ajb.1 uc004ajc.1 uc010mpa.1)
ENST00000396237
miRNA
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2 qRT-PCR Assays for microRNAs that regulate TMC1:
hsa-miR-3163 hsa-miR-1287
SwitchGear 3'UTR luciferase reporter plasmidTMC1 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for TMC1
Predesigned siRNA for gene silencing in human, mouse, rat TMC1
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OriGene ORF clones in mouse, rat for TMC1
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GenScript: all cDNA clones in your preferred vector: TMC1 (NM_138691)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMC1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMC1
  QuantiTect SYBR Green Assays in human, mouse, rat TMC1
  QuantiFast Probe-based Assays in human, mouse, rat TMC1

11 AceView cDNA sequences:

AF417578 NM_138691 BP370498 AW295808 AK098607 AI699911 AI686465 BG150313 
BX093725 AI336832 BF214797 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TMC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGGCCAATT
TMC1 Expression
About this image

TMC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMC1 Protein Expression

UniProtKB/Swiss-Prot: TMC1_HUMAN, Q8TDI8
Tissue specificity: Detected in fetal cochlea, and at low levels in placenta and testis

    Custom PCR Arrays for TMC1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMC1

(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)
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This gene was present in the common ancestor of animals.

Orthologs for TMC1 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmc11 , 5 transmembrane channel-like gene family 11, 5 88.61(n)1
97.12(a)1
  19 (13.98 cM)5
134091  NM_028953.21  NP_083229.11 
 207834585 
chicken
(Gallus gallus)
Aves TMC11 transmembrane channel-like 1 72.45(n)
72.2(a)
  427255  NM_001006580.1  NP_001006580.1 
lizard
(Anolis carolinensis)
Reptilia TMC16
transmembrane channel-like 1
65(a)
1 ↔ 1
2(47993071-48060703)
tropical clawed frog
(Xenopus tropicalis)
Amphibia tmc11 transmembrane channel-like 1 69.58(n)
70.44(a)
  100486683  XM_002935593.1  XP_002935639.1 
zebrafish
(Danio rerio)
Actinopterygii tmc11 transmembrane channel-like 1 66.67(n)
67.18(a)
  567237  XM_690529.4  XP_695621.4 
fruit fly
(Drosophila melanogaster)
Insecta CG32806
--
14(a)
1 → many
3L(9596701-9607009)
worm
(Caenorhabditis elegans)
Secernentea T13G4.33   -- 34(a)
(best of 2)
  X(1202384-1212051)   --


ENSEMBL Gene Tree for TMC1 (if available)
TreeFam Gene Tree for TMC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMC1 gene
TMC72  TMC32  TMC22  TMC82  TMC52  TMC42  TMC62  
2 SIMAP similar genes for TMC1 using alignment to 5 protein entries:     TMC1_HUMAN (see all proteins):
TMC2    TMC3

Find genes that share paralogs with TMC1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TMC1 (see all 6163)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0141254
Deafness, autosomal dominant, 36 (DFNA36)4--see VAR_0141252 D N mis40--------
VAR_0141264
Deafness, autosomal recessive, 7 (DFNB7)4--see VAR_0141262 M V mis40--------
rs25896151,2
C,F,A,Hnon-pathogenic175187803(-) GTCTCA/GTCTTC 2 D syn1 ese335Minor allele frequency- G:0.48NA NS EA WA CSA EU 8676
rs17969931,2,,4
C,F,A,Hnon-pathogenic175199588(-) TTCTTC/TTTCTC 2 K E mis1 trp323Minor allele frequency- T:0.23NA NS EA WA EU 7989
rs170581531,2,,4
C,F,Hnon-pathogenic175291311(+) CAATAT/CGATCA 2 /T /M mis118Minor allele frequency- C:0.02NA NS EA EU 7501
rs345324211,2
C,Fnon-pathogenic175315232(+) GAATTC/TGACAT 2 F syn14Minor allele frequency- T:0.10NA EU 6066
rs1219080731,2
C,Fpathogenic175193644(+) TACCTC/TGAAGA 2 R * stg10--------
rs1219080721,2
Cpathogenic175315233(+) AATTCA/C/GACATC 3 N H D mis10--------
rs1110334971,2
Cprobable-non-pathogenic175271499(+) ATTCCA/GTTCTC 2 I V mis10--------
rs1110334641,2
Cprobable-non-pathogenic175287541(+) CACAAC/TGAACT 2 T M mis10--------

HapMap Linkage Disequilibrium report for TMC1 (75136717 - 75386717 bp, first 250kb of TMC1)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for TMC1 (see all 18):    About this table    
Variant IDTypeSubtypePubMed ID
esv2738550CNV Deletion23290073
esv1000190CNV Insertion20482838
esv273677CNV Insertion20981092
esv273406CNV Insertion20981092
esv270202CNV Insertion20981092
esv271909CNV Insertion20981092
nsv416490CNV Insertion16902084
esv2652527CNV Insertion19546169
esv268860CNV Insertion20981092
esv272215CNV Insertion20981092

Human Gene Mutation Database (HGMD): TMC1
Locus Specific Mutation Databases (LSDB): TMC1

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TMC1
DNA2.0 Custom Variant and Variant Library Synthesis for TMC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 606706   
OMIM disorders: 600974  606705  
UniProtKB/Swiss-Prot: TMC1_HUMAN, Q8TDI8
  • Deafness, autosomal dominant, 36 (DFNA36) [MIM:606705]: 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. DFNA36 is a bilateral hearing loss, and
    begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Deafness, autosomal recessive, 7 (DFNB7) [MIM:600974]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 9 diseases for TMC1:    
    About MalaCards
    toxic megacolon    deafness, autosomal recessive 7    dfnb 7/11 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 36
    dfna36 nonsyndromic hearing loss and deafness    seminal vesicle tumor    megacolon    deafness, autosomal dominant 4b
    deafness, autosomal recessive 76

    4 diseases from the University of Copenhagen DISEASES database for TMC1:
    Nonsyndromic deafness     Sensorineural hearing loss     Hodgkin's lymphoma, nodular sclerosis     Toxic megacolon

    Find genes that share disorders with TMC1           About GenesLikeMe

    3 Novoseek inferred disease relationships for TMC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dfna36 99.3 16 17250663 (4), 18616530 (2), 15354000 (1), 19180119 (1) (see all 8)
    dfnb7 98.7 17 17877751 (4), 15605408 (2), 16287143 (2), 18616530 (2) (see all 6)
    hearing loss sensorineural 63.9 2 19187973 (2)

    Genetic Association Database (GAD): TMC1
    Human Genome Epidemiology (HuGE) Navigator: TMC1 (3 documents)

    Export disorders for TMC1 gene to outside databases

    (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)
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    PubMed articles for TMC1 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with TMC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. (PubMed id 11850618)1, 2, 3, 9 Kurima K.... Griffith A.J. (Nat. Genet. 2002)
    2. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (PubMed id 15605408)1, 4, 9 Meyer C.G....Horstmann R.D. (Hum. Mutat. 2005)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. (PubMed id 11850623)1, 3 Vreugde S....Steel K.P. (Nat. Genet. 2002)
    6. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. (PubMed id 18616530)1, 9 Hilgert N....Van Camp G. (Clin. Genet. 2008)
    7. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. (PubMed id 17877751)1, 9 Kitajiri S.I....Griffith A.J. (Clin. Genet. 2007)
    8. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. (PubMed id 16287143)1, 9 Kalay E....Kremer H. (Hum. Mutat. 2005)
    9. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. (PubMed id 19187973)1, 9 Sirmaci A....Tekin M. (Int. J. Pediatr. Otorhinolaryngol. 2009)
    10. Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. (PubMed id 19180119)1, 9 Hilgert N....Van Camp G. (J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
    Free Text  

      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 117531 HGNC: 16513 AceView: TMC1 Ensembl:ENSG00000165091 euGenes: HUgn117531
    ECgene: TMC1 H-InvDB: TMC1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMC1 gene:
    Search GeneIP for patents involving TMC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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