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 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; chr9:75136717-75451267 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human TMC1

Alleles and phenotypes

All alleles(15) : Targeted(1) Gene trapped(9) Spontaneous(1) Chemically induced(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	auditory receptor cell development, detection of mechanical stimulus involved in sensory perception of sound, ...
Component	external side of plasma membrane, integral to membrane, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (143)    Tissues (27)    Images (31)
Theiler Stages: 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	123
In situ reporter (knock in)	5
RT-PCR	15

cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(8) Genomic(1) cDNA(5) Primer pair(1) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000024749 (Evidence)
Entrez Gene	13409 (Evidence)
UniGene	219585
DFCI	TC1590074, TC1593640, TC1619935, TC1736162
DoTS	DT.101710009, DT.40168793, DT.94132545, DT.94260382
NIA Mouse Gene Index	U038906
Consensus CDS Project	CCDS50403.1
International Mouse Knockout Project Status	Tmc1

Sequences

Length	Strain/Species
genomic	13409	NCBI Gene Model | MGI Sequence Detail	170745	C57BL/6J
transcript	NM_028953	RefSeq | MGI Sequence Detail	4073	Not Specified
polypeptide	Q8R4P5	UniProt | EBI | MGI Sequence Detail	757	Not Applicable

All sequences(24) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(131 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:181985 Manji SS, et al., Identification of three novel hearing loss mouse strains with mutations in the tmc1 gene. Am J Pathol. 2012 Apr;180(4):1560-9
All references(59)

Other accession IDs

MGD-MRK-8873, MGI:1891330, MGI:1921712, MGI:94911