Tmc2 transmembrane channel-like gene family 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmc2provided by MGI
Official Full Name: transmembrane channel-like gene family 2provided by MGI
Primary source: MGI:MGI:2151017
See related: Ensembl:ENSMUSG00000060332 AllianceGenome:MGI:2151017
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CWEA2
Summary: Enables mechanosensitive ion channel activity and voltage-gated calcium channel activity. Acts upstream of or within several processes, including calcium ion transmembrane transport; detection of mechanical stimulus involved in sensory perception of sound; and vestibular reflex. Located in stereocilium tip. Is expressed in inner ear. Orthologous to human TMC2 (transmembrane channel like 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.19 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (130037114..130106365)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (130195194..130265189)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study in transgenic mouse line in which Tmc2 cDNA is expressed under the control of the Tmc1 promoter revealed distinct roles and requirements for Tmc1 and Tmc2 in mature cochlear hair cells.
Title: Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function.
Study in transgenic mice shows that expression of knock-in Tmc2 restores sensory transduction in vestibular hair cells and transiently in cochlear hair cells in the absence of Tmc1. The cellular rescue leads to recovery of balance but not auditory function and concludes that Tmc1 provides some additional necessary function, not provided by Tmc2.
Title: Transgenic Tmc2 expression preserves inner ear hair cells and vestibular function in mice lacking Tmc1.
This study showed that calcium and integrin-binding protein 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 mutations.
Title: CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
TMC1 and TMC2 are components of the stereocilia mechanoelectrical transduction channel complex.
Title: TMC1 and TMC2 Localize at the Site of Mechanotransduction in Mammalian Inner Ear Hair Cell Stereocilia.
During the first postnatal week, we observed a normal mechanotransducer current in hair cells lacking Tmc1 or Tmc2; however, in the absence of both isoforms, we recorded a large MT current that was phase-shifted 180 degrees .
Title: The role of transmembrane channel-like proteins in the operation of hair cell mechanotransducer channels.
This study demonstrate TMC2 is components of hair cell transduction channels and contribute to permeation properties.
Title: TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear.
Tmc1 is expressed in mouse vestibular & cochlear hair cells near the stereocilia tips. Deletion of Tmc1 & Tmc2 causes deafness. Deletion of only Tmc2 does not.
Title: Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2) 1 citation

General gene information

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Markers

Tmc2 (e-PCR), detects polymorphism
- UniSTS:548028

Tmc2 (e-PCR), detects polymorphism
- UniSTS:548029

Tmc2 (e-PCR), detects polymorphism
- UniSTS:548030

Tmc2 (e-PCR), detects polymorphism
- UniSTS:548031

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables mechanosensitive monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables mechanosensitive monoatomic ion channel activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated calcium channel activity	IGI Inferred from Genetic Interaction more info	PubMed
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IGI Inferred from Genetic Interaction more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of sound	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of calcium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in vestibular reflex	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vestibular reflex	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane channel-like protein 2

Names: transmembrane cochlear-expressed protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_138655.1 → NP_619596.1 transmembrane channel-like protein 2

See identical proteins and their annotated locations for NP_619596.1

Status: VALIDATED

Source sequence(s)

AF417581

Consensus CDS

CCDS16736.1

UniProtKB/Swiss-Prot

Q7TQB1, Q8R4P4

Related

ENSMUSP00000077139.2, ENSMUST00000077988.8

Conserved Domains (2) summary

pfam06273
Location:6 → 145

eIF-4B; Plant specific eukaryotic initiation factor 4B

pfam07810
Location:561 → 667

TMC; TMC domain