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    TMC3 transmembrane channel like 3 [ Homo sapiens (human) ]

    Gene ID: 342125, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMC3provided by HGNC
    Official Full Name
    transmembrane channel like 3provided by HGNC
    Primary source
    HGNC:HGNC:22995
    See related
    Ensembl:ENSG00000188869 MIM:617196; AllianceGenome:HGNC:22995
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable mechanosensitive monoatomic ion channel activity. Predicted to be involved in monoatomic ion transmembrane transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TMC3 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (81331088..81374213, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (79195160..79238283, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81623429..81666554, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 161 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81481874-81483073 Neighboring gene interleukin 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9949 Neighboring gene Sharpr-MPRA regulatory regions 3481 and 15421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9951 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81585795-81586313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81588972-81589538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81589539-81590103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9956 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:81595578-81596777 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:81600895-81601072 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81605226-81606425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81648807-81649306 Neighboring gene TMC3 antisense RNA 1 Neighboring gene StAR related lipid transfer domain containing 5 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81841057-81841558 Neighboring gene uncharacterized LOC102723985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81943819-81944319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81944380-81944880 Neighboring gene uncharacterized LOC105370921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81966619-81967178

    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. Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function. Tang W, et al. PLoS One, 2014. PMID 24983941, Free PMC Article
    2. Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics. Dong C, et al. J Lipid Res, 2011 Jul. PMID 21558551, Free PMC Article
    3. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Ahmad J, et al. Hum Genet, 2005 Apr. PMID 15711797
    4. Parkinson disease loci in the mid-western Amish. Davis MF, et al. Hum Genet, 2013 Nov. PMID 23793441, Free PMC Article
    5. Conductance and block of hair-cell mechanotransducer channels in transmembrane channel-like protein mutants. Beurg M, et al. J Gen Physiol, 2014 Jul. PMID 24981230, Free PMC Article

    See all (11) 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
    Parkinson disease loci in the mid-western Amish.
    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)

    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
    		  
    Process Evidence Code Pubs
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane channel-like protein 3

    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_054935.1 RefSeqGene

      Range
      4865..47990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080532.3 → NP_001074001.1  transmembrane channel-like protein 3

      See identical proteins and their annotated locations for NP_001074001.1

      Status: VALIDATED

      Source sequence(s)
      AC103858, AY236490, AY263163, BC157874
      Consensus CDS
      CCDS45324.1
      UniProtKB/Swiss-Prot
      A2RTY2, B2RXJ3, Q7Z405, Q7Z5M5
      UniProtKB/TrEMBL
      H0YK69
      Related
      ENSP00000352413.5, ENST00000359440.6
      Conserved Domains (1) summary
      pfam07810
      Location:504 → 610
      TMC; TMC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      81331088..81374213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      79195160..79238283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181841.1: Suppressed sequence

      Description
      NM_181841.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5M5.3 GenPept UniProtKB/Swiss-Prot:Q7Z5M5

    Gene LinkOut

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

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