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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:20760822-20931566 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 13.98 cM, cytoband B
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1727 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2151016
 protein coding gene Chr19:20760820-20931566 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024975
 protein coding gene Chr19:18781411-18965919 (-)
A/J MGP_AJ_G0024952
 protein coding gene Chr19:17746593-17915342 (-)
AKR/J MGP_AKRJ_G0024922
 protein coding gene Chr19:18435472-18612286 (-)
BALB/cJ MGP_BALBcJ_G0024951
 protein coding gene Chr19:17764275-17936893 (-)
C3H/HeJ MGP_C3HHeJ_G0024709
 protein coding gene Chr19:18379877-18573942 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025393
 protein coding gene Chr19:19436561-19619783 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022812
 protein coding gene Chr19:18040642-18202959 (-)
CAST/EiJ MGP_CASTEiJ_G0024177
 protein coding gene Chr19:18050918-18228327 (-)
CBA/J MGP_CBAJ_G0024687
 protein coding gene Chr19:20214645-20407273 (-)
DBA/2J MGP_DBA2J_G0024819
 protein coding gene Chr19:17758165-17928725 (-)
FVB/NJ MGP_FVBNJ_G0024780
 protein coding gene Chr19:17633245-17806811 (-)
LP/J MGP_LPJ_G0024903
 protein coding gene Chr19:18752707-18932360 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024807
 protein coding gene Chr19:20344829-20557288 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025448
 protein coding gene Chr19:18382635-18562692 (-)
PWK/PhJ MGP_PWKPhJ_G0023926
 protein coding gene Chr19:17295756-17466812 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023731
 protein coding gene Chr19:17663503-17840924 (-)
WSB/EiJ MGP_WSBEiJ_G0024245
 protein coding gene Chr19:18443645-18623436 (-)



Homology
more
  • Human Ortholog
    TMC1, transmembrane channel like 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMC1, transmembrane channel like 1
  • Synonyms
    DFNA36, DFNB11, DFNB7
  • Links
    NCBI Gene ID: 117531
    neXtProt AC: NX_Q8TDI8
    UniProt: Q8TDI8

  • Chr Location
    9q21.13; chr9:72521608-72838297 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Tmc1 mouse models; 3 with human TMC1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 6 models
      
IDs
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
less
  • Phenotype Summary
    27 phenotypes from 6 alleles in 6 genetic backgrounds
    14 phenotypes from multigenic genotypes
    69 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.
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
less
  • All GO Annotations
    25
  • GO References
    9
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    863
  • Tissues
    31
  • cDNA Data
    6
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      Genomic 1
      cDNA 6
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-8873, MGI:1891330, MGI:1921712, MGI:94911
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 9
      Phenotypes 69
    • Earliest
      J:236 Deol MS, et al., A new gene for deafness in the mouse. Heredity. 1958;12(4):463-6
    • Latest
      J:344637 Beurg M, et al., LHFPL5 is a key element in force transmission from the tip link to the hair cell mechanotransducer channel. Proc Natl Acad Sci U S A. 2024 Jan 16;121(3):e2318270121
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory