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

Gene ID: 79905, updated on 27-Nov-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 ion channel inhibitor activity and mechanosensitive monoatomic ion channel activity. Predicted to be involved in sensory perception of mechanical stimulus. Predicted to be located in plasma membrane. Predicted to be active in neuronal cell body. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 4.7), brain (RPKM 4.0) and 15 other tissues See more
Orthologs
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Genomic context

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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

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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. TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction. Zhang X, et al. Cell Rep, 2024 Apr 23. PMID 38568807
  3. 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
  4. 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
  5. 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

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction.
    Title: TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction.
  2. 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)

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 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

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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_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_047434662.1 → 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

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