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    TMC2 transmembrane channel like 2 [ Homo sapiens (human) ]

    Gene ID: 117532, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TMC2provided by HGNC
    Official Full Name
    transmembrane channel like 2provided by HGNC
    Primary source
    HGNC:HGNC:16527
    See related
    Ensembl:ENSG00000149488 MIM:606707; AllianceGenome:HGNC:16527
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C20orf145
    Summary
    This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TMC2 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2536573..2643580)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2566964..2674609)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2517219..2624226)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17467 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1 Neighboring gene zinc finger protein 343 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:2480910-2482109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17469 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:2490387-2490982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12603 Neighboring gene uncharacterized LOC105372504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2538685-2539395 Neighboring gene uncharacterized LOC105372505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12604 Neighboring gene NOP56 ribonucleoprotein repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17470 Neighboring gene small nucleolar RNA, C/D box 110 Neighboring gene microRNA 1292 Neighboring gene NOP56 ribonucleoprotein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation. Kawashima Y, et al. Pflugers Arch, 2015 Jan. PMID 25074487, Free PMC Article
    2. TMC function in hair cell transduction. Holt JR, et al. Hear Res, 2014 May. PMID 24423408, Free PMC Article
    3. Perception of sound and gravity by TMC1 and TMC2. Lin X. J Clin Invest, 2011 Dec. PMID 22105165, Free PMC Article
    4. Are TMCs the Mechanotransduction Channels of Vertebrate Hair Cells? Corey DP, et al. J Neurosci, 2016 Oct 26. PMID 27798174, Free PMC Article
    5. TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Tlili A, et al. Audiol Neurootol, 2008. PMID 18259073

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mechanosensitive monoatomic ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of mechanical stimulus involved in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of mechanical stimulus involved in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vestibular reflex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stereocilium tip IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane channel-like protein 2
    Names
    transmembrane cochlear-expressed gene 2
    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.

    Genomic

    1. NG_042834.1 RefSeqGene

      Range
      4967..111974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_080751.3 → NP_542789.2  transmembrane channel-like protein 2

      See identical proteins and their annotated locations for NP_542789.2

      Status: REVIEWED

      Source sequence(s)
      AL049712
      Consensus CDS
      CCDS13029.2
      UniProtKB/Swiss-Prot
      Q5JXT0, Q5JXT1, Q6UWW4, Q6ZS41, Q8N9F3, Q8TDI7, Q9BYN2, Q9BYN3, Q9BYN4, Q9BYN5
      Related
      ENSP00000351732.1, ENST00000358864.2
      Conserved Domains (1) summary
      pfam07810
      Location:579 → 685
      TMC; TMC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      2536573..2643580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260660.5 → XP_005260717.1  transmembrane channel-like protein 2 isoform X1

      Conserved Domains (2) summary
      pfam05672
      Location:95 → 187
      MAP7; MAP7 (E-MAP-115) family
      pfam07810
      Location:604 → 710
      TMC; TMC domain

    RNA

    1. XR_001754152.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      2566964..2674609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322937.1 → XP_054178912.1  transmembrane channel-like protein 2 isoform X1

    RNA

    1. XR_008485230.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDI7.3 GenPept UniProtKB/Swiss-Prot:Q8TDI7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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