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    TMC4 transmembrane channel like 4 [ Homo sapiens (human) ]

    Gene ID: 147798, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMC4provided by HGNC
    Official Full Name
    transmembrane channel like 4provided by HGNC
    Primary source
    HGNC:HGNC:22998
    See related
    Ensembl:ENSG00000167608 MIM:617181; AllianceGenome:HGNC:22998
    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
    Broad expression in duodenum (RPKM 27.9), colon (RPKM 25.4) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMC4 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54160108..54173160, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57240374..57253360, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54663846..54676854, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene uncharacterized LOC102724273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54662792-54663461 Neighboring gene leukocyte receptor cluster member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54676977-54677793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54677794-54678609 Neighboring gene membrane bound O-acyltransferase domain containing 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54683683-54684198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54684199-54684714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54684715-54685229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54687509-54688008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54692762-54693444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54693445-54694126 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54695049-54695250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54696095-54696610 Neighboring gene tRNA splicing endonuclease subunit 34 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54704113-54704783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54709694-54710202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54710710-54711217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54711218-54711724 Neighboring gene ribosomal protein S9

    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. Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease. Sookoian S, et al. Sci Rep, 2018 Mar 23. PMID 29572551, Free PMC Article
    2. The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent. Mancina RM, et al. Gastroenterology, 2016 May. PMID 26850495, Free PMC Article
    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. 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. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Denoeud F, et al. Genome Res, 2007 Jun. PMID 17567994, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study explored the role of rs641738 C/T located in TMC4 exon 1 (p.Gly17Glu) and 500 bases- downstream of MBOAT7 gene (TMC4/MBOAT7), in the genetic risk for developing nonalcoholic fatty liver disease (NAFLD). No evidence was found of association between rs641738 and either NAFLD (Cochran-Armitage test for trend, p = 0.529) or the disease severity (p = 0.61).
      Title: Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease.
    2. Report no association between the TMC4 rs641738 variant and the development and severity of NAFLD in individuals of European descent.
      Title: The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent.
    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
    An atlas of genetic influences on human blood metabolites.
    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

    • MGC39329

    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 4
    Names
    testicular tissue protein Li 204

    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_001145303.3 → NP_001138775.2  transmembrane channel-like protein 4 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA578987, AC245052, AY236492, BC025323, BQ082417, BU680152
      Consensus CDS
      CCDS46174.1
      UniProtKB/TrEMBL
      A0A087WT65, A0A0G2JPL6
      Related
      ENSP00000477627.1, ENST00000617472.4
      Conserved Domains (1) summary
      pfam07810
      Location:480 → 558
      TMC; TMC domain

    2. NM_144686.4 → NP_653287.2  transmembrane channel-like protein 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment in the 5' coding region compared to variant 1. The resulting isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AA578987, AC245052, AY236492, BC025323, BQ082417, BU680152
      Consensus CDS
      CCDS12882.1
      UniProtKB/TrEMBL
      A0A087WVI4, A0A0G2JMM6
      Related
      ENSP00000479458.1, ENST00000619895.5
      Conserved Domains (1) summary
      pfam07810
      Location:474 → 552
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54160108..54173160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526486.3 → XP_011524788.1  transmembrane channel-like protein 4 isoform X1

      Conserved Domains (1) summary
      pfam07810
      Location:320 → 398
      TMC; TMC domain

    RNA

    1. XR_935741.3 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      134958..147932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329665.1 → XP_054185640.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485656.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330144.1 → XP_054186119.1  transmembrane channel-like protein 4 isoform X2

    2. XM_054330143.1 → XP_054186118.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485690.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330457.1 → XP_054186432.1  transmembrane channel-like protein 4 isoform X3

    2. XM_054330456.1 → XP_054186431.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485695.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330710.1 → XP_054186685.1  transmembrane channel-like protein 4 isoform X4

    2. XM_054330709.1 → XP_054186684.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485701.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330941.1 → XP_054186916.1  transmembrane channel-like protein 4 isoform X5

    2. XM_054330940.1 → XP_054186915.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485705.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331219.1 → XP_054187194.1  transmembrane channel-like protein 4 isoform X6

    2. XM_054331218.1 → XP_054187193.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485712.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      134959..147938 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331491.1 → XP_054187466.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485719.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333530.1 → XP_054189505.1  transmembrane channel-like protein 4 isoform X7

    2. XM_054333529.1 → XP_054189504.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485848.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      134959..147968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333628.1 → XP_054189603.1  transmembrane channel-like protein 4 isoform X8

    2. XM_054333627.1 → XP_054189602.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485853.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57240374..57253360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319880.1 → XP_054175855.1  transmembrane channel-like protein 4 isoform X9

    2. XM_054319879.1 → XP_054175854.1  transmembrane channel-like protein 4 isoform X1

    RNA

    1. XR_008485087.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z404.3 GenPept UniProtKB/Swiss-Prot:Q7Z404

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