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Tmc1 Gene Detail
Summary
  • Symbol
    Tmc1
  • Name
    transmembrane channel-like gene family 1
  • Synonyms
    4933416G09Rik, Beethoven, Bth
  • Feature Type
    protein coding gene
  • IDs
    MGI:2151016
    NCBI Gene: 13409
  • Gene Overview
    MyGene.info: TMC1
Location & Maps
more
  • Sequence Map
    Chr19:20783458-20954202 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      170745 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 13.98 cM, cytoband B
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    TMC1, transmembrane channel like 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMC1, transmembrane channel like 1
    Orthology source: HomoloGene
  • Synonyms
    DFNA36, DFNB11, DFNB7
  • Links
    NCBI Gene ID: 117531
    neXtProt AC: NX_Q8TDI8

  • Chr Location
    9q21.12; chr9:72521801-72836351 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 23670
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: TMC1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Tmc1 mouse models; 2 with human TMC1 associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 36; DFNA36   OMIM: 606705 View 3 models
Deafness, Autosomal Recessive 7; DFNB7   OMIM: 600974 View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    33 phenotypes from 6 alleles in 7 genetic backgrounds
    14 phenotypes from multigenic genotypes
    34 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (ENU)
    4
  • Gene trapped
    9
  • Spontaneous
    1
  • Targeted
    1
  • Transgenic
    1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024749 Ensembl Gene Model | MGI Sequence Detail 170745 C57BL/6J ±  kb
transcript ENSMUST00000039500 Ensembl | MGI Sequence Detail 4073 Not Applicable  
polypeptide ENSMUSP00000040859 Ensembl | MGI Sequence Detail 757 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    2874 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000016392 transmembrane channel-like protein 1
  • InterPro Domains
Molecular
Reagents
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  • All nucleic 8
    Genomic 1
    cDNA 5
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-8873, MGI:1891330, MGI:1921712, MGI:94911
References
more
  • Summaries
    All 59
    Developmental Gene Expression 2
    Diseases 4
    Gene Ontology 6
    Phenotypes 34
  • Earliest
    J:236 Deol MS, et al., A new gene for deafness in the mouse. Heredity. 1958;12:463-6
  • Latest
    J:218911 Beurg M, et al., Subunit determination of the conductance of hair-cell mechanotransducer channels. Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1589-94

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
07/19/2016
MGI 6.04
The Jackson Laboratory