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    TMC7 transmembrane channel like 7 [ Homo sapiens (human) ]

    Gene ID: 79905, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TMC7provided by HGNC
    Official Full Name
    transmembrane channel like 7provided by HGNC
    Primary source
    HGNC:HGNC:23000
    See related
    Ensembl:ENSG00000170537 MIM:617198; AllianceGenome:HGNC:23000
    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. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 4.7), brain (RPKM 4.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p12.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18983934..19063942)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18914769..18994754)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18995256..19075264)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene putative uncharacterized protein encoded by LINC00269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:18922767-18923268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18937597-18938209 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18938210-18938823 Neighboring gene SMG1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:18983611-18984111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7239 Neighboring gene Sharpr-MPRA regulatory region 10247 Neighboring gene RNA, U6 small nuclear 1340, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19041109-19041653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10523 Neighboring gene COQ7 divergent transcript Neighboring gene uncharacterized LOC124903656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10525 Neighboring gene coenzyme Q7, hydroxylase

    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. Identification of EMT-related alternative splicing event of TMC7 to promote invasion and migration of pancreatic cancer. Weng Y, et al. Front Immunol, 2022. PMID 36713450, Free PMC Article
    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. Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. Turner ST, et al. Hypertension, 2012 Jun. PMID 22566498, 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. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of EMT-related alternative splicing event of TMC7 to promote invasion and migration of pancreatic cancer.
      Title: Identification of EMT-related alternative splicing event of TMC7 to promote invasion and migration of pancreatic cancer.
    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
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    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

    • FLJ21240, DKFZp781O2274

    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 7

    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_001160364.2 → NP_001153836.1  transmembrane channel-like protein 7 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in both UTR's and the coding region but maintains the reading frame, compared to variant 3. This results in a protein that is shorter than isoform c.
      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS53992.1
      UniProtKB/Swiss-Prot
      Q7Z402
      Related
      ENSP00000397081.3, ENST00000421369.3
      Conserved Domains (1) summary
      pfam07810
      Location:381 → 483
      TMC; TMC domain

    2. NM_001300732.2 → NP_001287661.1  transmembrane channel-like protein 7 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (c).
      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS73837.1
      UniProtKB/TrEMBL
      B3KSZ3, H3BNW8
      Related
      ENSP00000455041.1, ENST00000569532.5
      Conserved Domains (1) summary
      pfam07810
      Location:491 → 593
      TMC; TMC domain

    3. NM_001324263.1 → NP_001311192.1  transmembrane channel-like protein 7 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC099518

    4. NM_001324265.1 → NP_001311194.1  transmembrane channel-like protein 7 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      B3KSZ3

    5. NM_001324268.1 → NP_001311197.1  transmembrane channel-like protein 7 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC099518

    6. NM_024847.4 → NP_079123.3  transmembrane channel-like protein 7 isoform a

      See identical proteins and their annotated locations for NP_079123.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an alternate penultimate exon, compared to variant 3, resulting in an alternate 3' coding region and longer 3' UTR. It encodes isoform a which has a distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AC099518
      Consensus CDS
      CCDS10573.1
      UniProtKB/Swiss-Prot
      E7ERB6, Q5H9Q8, Q7Z402, Q7Z5M4, Q86WX0, Q9H766
      UniProtKB/TrEMBL
      B3KSZ3
      Related
      ENSP00000304710.5, ENST00000304381.10
      Conserved Domains (1) summary
      pfam07810
      Location:491 → 593
      TMC; TMC domain

    RNA

    1. NR_136733.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC099518

    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
      18983934..19063942
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434662.1 → XP_047290618.1  transmembrane channel-like protein 7 isoform X2

    2. XM_047434661.1 → XP_047290617.1  transmembrane channel-like protein 7 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      18914769..18994754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313960.1 → XP_054169935.1  transmembrane channel-like protein 7 isoform X2

    2. XM_054313959.1 → XP_054169934.1  transmembrane channel-like protein 7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z402.1 GenPept UniProtKB/Swiss-Prot:Q7Z402

    Gene LinkOut

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

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