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

Gene ID: 79838, updated on 5-Mar-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 ion channel activity. Predicted to be involved in ion transmembrane transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in small intestine (RPKM 21.9), stomach (RPKM 18.3) and 10 other tissues See more
Orthologs
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Genomic context

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Location:
16p12.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19410539..19499113)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19341776..19429985)
105.20220307 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: 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 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 (16) 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)

Genotypes

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_2023_10

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

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