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Tmc1
Gene Detail
 Symbol
Name
ID
Tmc1
transmembrane channel-like gene family 1
MGI:2151016
Synonyms 4933416G09Rik, Beethoven, Bth
Feature Type protein coding gene
Genetic Map
Chromosome 19
13.98 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr19:20783458-20954202 bp, - strand
From NCBI annotation of GRCm38

  170745 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23670  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Tmc1

Human
homologs
Human Homolog TMC1, transmembrane channel-like 1
NCBI Gene ID 117531
neXtProt AC  NX_Q8TDI8
Human Synonyms  DFNA36, DFNB11, DFNB7
Human Chr (Location)  9q21.12; chr9:72521801-72836351 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human TMC1
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Chemically induced (ENU)(4) Gene trapped(9) Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness.
 
Human Diseases Modeled Using Mouse Tmc1 (2)    Alleles Annotated to Human Diseases(5)   
Interactions
Tmc1 interacts with 268 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process auditory receptor cell development, calcium ion transmembrane transport, ...
Component external side of plasma membrane, integral component of membrane, ...
Function voltage-gated calcium channel activity
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (143)    Tissues (29)    Images (31)
Theiler Stages: 23, 24, 25, 26, 27, 28
Assay TypeResults
RNA in situ 123
In situ reporter (knock in) 5
RT-PCR 15
cDNA source data(5)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(8) Genomic(1) cDNA(5) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000024749 (Evidence)
Entrez Gene13409 (Evidence)
UniGene219585
DFCITC1590074, TC1593640, TC1619935, TC1736162
DoTSDT.101710009, DT.40168793, DT.94132545, DT.94260382
NIA Mouse Gene IndexU038906
Consensus CDS ProjectCCDS50403.1
International Mouse Knockout Project StatusTmc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 13409 NCBI Gene Model | MGI Sequence Detail 170745 C57BL/6J ±  kb
transcript NM_028953 RefSeq | MGI Sequence Detail 4073 Not Specified 
polypeptide Q8R4P5 UniProt | EBI | MGI Sequence Detail 757 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(1737 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR012496 TMC
Protein Ontology PR:000016392 transmembrane channel-like protein 1
Graphical View of Protein Domain Structure
References (Earliest) J:236 Deol MS, et al., A new gene for deafness in the mouse. Heredity. 1958;12:463-6
(Latest) J:201662 Pan B, et al., TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear. Neuron. 2013 Aug 7;79(3):504-15
All references(60)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-8873, MGI:1891330, MGI:1921712, MGI:94911

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory