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    TMC5 transmembrane channel like 5 [ Homo sapiens (human) ]

    Gene ID: 79838, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMC5provided by HGNC
    Official Full Name
    transmembrane channel like 5provided by HGNC
    Primary source
    HGNC:HGNC:22999
    See related
    Ensembl:ENSG00000103534 MIM:617197; AllianceGenome:HGNC:22999
    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. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in small intestine (RPKM 21.9), stomach (RPKM 18.3) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMC5 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19410539..19499113)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19341776..19429985)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19421861..19510435)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2858 Neighboring gene uncharacterized LOC105371114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10529 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:19404552-19405751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7244 Neighboring gene uncharacterized LOC124903659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19499330-19500018 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:19507832-19508043 Neighboring gene RNA, U4 small nuclear 46, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:19532887-19533621 Neighboring gene glycerophosphodiester phosphodiesterase 1 Neighboring gene centriolar coiled-coil protein 110

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Transmembrane Channel-Like 5 (TMC5) promotes prostate cancer cell proliferation through cell cycle regulation. Zhang W, et al. Biochimie, 2019 Oct. PMID 31356847
    2. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. Kurima K, et al. Genomics, 2003 Sep. PMID 12906855
    3. A genome-wide association study of sleep habits and insomnia. Byrne EM, et al. Am J Med Genet B Neuropsychiatr Genet, 2013 Jul. PMID 23728906, Free PMC Article
    4. TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. Keresztes G, et al. BMC Genomics, 2003 Jun 17. PMID 12812529, Free PMC Article
    5. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. Ng D, et al. Int J Cancer, 2008 Oct 1. PMID 18649358, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This findings revealed that TMC5 promoted prostate cancer cell proliferation through cell cycle regulation and could be a powerful and hopeful target for prostate cancer treatment.
      Title: Transmembrane Channel-Like 5 (TMC5) promotes prostate cancer cell proliferation through cell cycle regulation.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.
    Submit: New GeneRIF Correction

    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
    A genome-wide association study of sleep habits and insomnia.
    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

    Clone Names

    • FLJ13593

    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 extracellular exosome HDA PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane channel-like protein 5

    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)

    1. NM_001105248.1 → NP_001098718.1  transmembrane channel-like protein 5 isoform a

      See identical proteins and their annotated locations for NP_001098718.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A). Variants 1 and 4 encode the same isoform (A).
      Source sequence(s)
      AI738488, AK023655, BC070101, CR749359
      Consensus CDS
      CCDS45431.1
      UniProtKB/Swiss-Prot
      Q68DK8, Q6UXY8, Q8IY20, Q8NHV6, Q9H8I7
      UniProtKB/TrEMBL
      B7Z946
      Related
      ENSP00000379531.2, ENST00000396229.6
      Conserved Domains (1) summary
      pfam07810
      Location:729 → 825
      TMC; TMC domain

    2. NM_001105249.1 → NP_001098719.1  transmembrane channel-like protein 5 isoform b

      See identical proteins and their annotated locations for NP_001098719.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter protein (isoform B), compared to isoform A.
      Source sequence(s)
      AI738488, AK023655, BC070101, CR749359
      Consensus CDS
      CCDS42126.1
      UniProtKB/TrEMBL
      B7Z946
      Related
      ENSP00000370822.4, ENST00000381414.8
      Conserved Domains (1) summary
      pfam07810
      Location:729 → 825
      TMC; TMC domain

    3. NM_001261841.2 → NP_001248770.1  transmembrane channel-like protein 5 isoform a

      See identical proteins and their annotated locations for NP_001248770.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate promoter, compared to variant 1. Variants 1 and 4 encode the same isoform (A).
      Source sequence(s)
      AK023655, AK304431, BC070101, CR749359, DB222660
      Consensus CDS
      CCDS45431.1
      UniProtKB/Swiss-Prot
      Q68DK8, Q6UXY8, Q8IY20, Q8NHV6, Q9H8I7
      UniProtKB/TrEMBL
      B7Z946
      Related
      ENSP00000446274.2, ENST00000542583.7
      Conserved Domains (1) summary
      pfam07810
      Location:729 → 825
      TMC; TMC domain

    4. NM_001308161.1 → NP_001295090.1  transmembrane channel-like protein 5 isoform d

      See identical proteins and their annotated locations for NP_001295090.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC130456, AK299055, CR749359
      Consensus CDS
      CCDS76837.1
      UniProtKB/TrEMBL
      B7Z5K3, F5GYU8
      Related
      ENSP00000441227.1, ENST00000541464.5
      Conserved Domains (1) summary
      pfam07810
      Location:677 → 773
      TMC; TMC domain

    5. NM_024780.5 → NP_079056.2  transmembrane channel-like protein 5 isoform c

      See identical proteins and their annotated locations for NP_079056.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple 5' exons and uses an alternate promoter and start codon, compared to variant 1, which results in a protein (isoform C) with a shorter, distinct N-terminus, compared to isoform A.
      Source sequence(s)
      AK023655, AY236494, BC027602, CR749359
      Consensus CDS
      CCDS10577.1
      UniProtKB/TrEMBL
      B3KUQ8
      Related
      ENSP00000219821.5, ENST00000219821.9
      Conserved Domains (1) summary
      pfam07810
      Location:483 → 579
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19410539..19499113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      19341776..19429985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXY8.3 GenPept UniProtKB/Swiss-Prot:Q6UXY8

    Gene LinkOut

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

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