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

    Gene ID: 79838, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TMC5 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    transmembrane channel-like protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001105248.1NP_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:729825
      TMC; TMC domain
    2. NM_001105249.1NP_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:729825
      TMC; TMC domain
    3. NM_001261841.2NP_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:729825
      TMC; TMC domain
    4. NM_001308161.1NP_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:677773
      TMC; TMC domain
    5. NM_024780.5NP_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:483579
      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)