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

    Gene ID: 79905, updated on 18-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMC7 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18983934..19063942)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18914769..18994754)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21240, DKFZp781O2274

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ion channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    involved_in sensory perception of mechanical stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transmembrane channel-like protein 7

    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_001160364.2NP_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:381483
      TMC; TMC domain
    2. NM_001300732.2NP_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:491593
      TMC; TMC domain
    3. NM_001324263.1NP_001311192.1  transmembrane channel-like protein 7 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC099518
    4. NM_001324265.1NP_001311194.1  transmembrane channel-like protein 7 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC099518
      UniProtKB/TrEMBL
      B3KSZ3
    5. NM_001324268.1NP_001311197.1  transmembrane channel-like protein 7 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC099518
    6. NM_024847.4NP_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:491593
      TMC; TMC domain

    RNA

    1. NR_136733.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC099518

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

    mRNA and Protein(s)

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

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

      UniProtKB/TrEMBL
      B3KSZ3

    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_054313960.1XP_054169935.1  transmembrane channel-like protein 7 isoform X2

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

      UniProtKB/TrEMBL
      B3KSZ3