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    Tmc8 transmembrane channel-like gene family 8 [ Mus musculus (house mouse) ]

    Gene ID: 217356, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Tmc8provided by MGI
    Official Full Name
    transmembrane channel-like gene family 8provided by MGI
    Primary source
    MGI:MGI:2669037
    See related
    Ensembl:ENSMUSG00000050106 AllianceGenome:MGI:2669037
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    EVIN2; Ever2; mFLJ00400
    Summary
    Predicted to enable mechanosensitive ion channel activity; protein sequestering activity; and tumor necrosis factor binding activity. Predicted to be involved in several processes, including negative regulation of protein binding activity; regulation of extrinsic apoptotic signaling pathway via death domain receptors; and zinc ion homeostasis. Predicted to act upstream of or within ion transport. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and nuclear membrane. Human ortholog(s) of this gene implicated in epidermodysplasia verruciformis. Orthologous to human TMC8 (transmembrane channel like 8). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in thymus adult (RPKM 68.4), spleen adult (RPKM 27.6) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 E2; 11 82.96 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (117672396..117683963)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (117781584..117793137)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2900041M22 gene Neighboring gene predicted gene, 35170 Neighboring gene STARR-seq mESC enhancer starr_31269 Neighboring gene STARR-positive B cell enhancer ABC_E2377 Neighboring gene STARR-positive B cell enhancer ABC_E5303 Neighboring gene trinucleotide repeat containing 6C Neighboring gene STARR-seq mESC enhancer starr_31271 Neighboring gene STARR-seq mESC enhancer starr_31272 Neighboring gene STARR-positive B cell enhancer ABC_E1437 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:117642510-117642724 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:117643420-117643529 Neighboring gene STARR-positive B cell enhancer ABC_E5304 Neighboring gene STARR-positive B cell enhancer ABC_E9147 Neighboring gene transmembrane channel-like gene family 6 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:117655547-117655805 Neighboring gene RIKEN cDNA 6030468B19 gene Neighboring gene predicted gene 11723 Neighboring gene STARR-positive B cell enhancer ABC_E5305 Neighboring gene STARR-positive B cell enhancer ABC_E5306 Neighboring gene synaptogyrin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components. Wu CJ, et al. J Biol Chem, 2020 Nov 20. PMID 32917726, 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. 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
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
      Title: Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00400

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables mechanosensitive monoatomic ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein sequestering activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables tumor necrosis factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular zinc ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of extrinsic apoptotic signaling pathway via death domain receptors ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    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 8
    Names
    epidermodysplasia verruciformis 2
    epidermodysplasia verruciformis protein 2 homolog
    transmembrane channel-like 8

    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_001195088.1 → NP_001182017.1  transmembrane channel-like protein 8 isoform A

      Status: VALIDATED

      Description
      Transcript Variant: This variant (A) represents the longest transcript and encodes the longest isoform (A).
      Source sequence(s)
      AL645856

    2. NM_001195089.1 → NP_001182018.1  transmembrane channel-like protein 8 isoform B

      See identical proteins and their annotated locations for NP_001182018.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (B) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant A. The resulting protein (isoform B) has a distinct N-terminus and is shorter than isoform A.
      Source sequence(s)
      AL645856
      Consensus CDS
      CCDS56824.1
      UniProtKB/TrEMBL
      B0QZP6, Q571H8
      Related
      ENSMUSP00000101941.3, ENSMUST00000106334.9
      Conserved Domains (1) summary
      pfam07810
      Location:423 → 533
      TMC; TMC domain

    3. NM_001195090.1 → NP_001182019.1  transmembrane channel-like protein 8 isoform D

      See identical proteins and their annotated locations for NP_001182019.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (D) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses three alternate in-frame splice sites in the 5' coding region, compared to variant A. The resulting protein (isoform D) has a distinct N-terminus and is shorter than isoform A.
      Source sequence(s)
      AL645856, AY236501
      Consensus CDS
      CCDS56825.1
      UniProtKB/TrEMBL
      B0QZP7, Q571H8
      Related
      ENSMUSP00000113570.2, ENSMUST00000117781.8
      Conserved Domains (1) summary
      pfam07810
      Location:427 → 527
      TMC; TMC domain

    4. NM_181856.2 → NP_862904.1  transmembrane channel-like protein 8 isoform C

      See identical proteins and their annotated locations for NP_862904.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant A. The resulting protein (isoform C) has a distinct N-terminus and is shorter than isoform A.
      Source sequence(s)
      AL645856
      Consensus CDS
      CCDS25689.1
      UniProtKB/Swiss-Prot
      Q3TAL0, Q3UWI0, Q7TN58, Q7TQ67
      UniProtKB/TrEMBL
      B1ATC0, Q571H8
      Related
      ENSMUSP00000051878.8, ENSMUST00000050874.14
      Conserved Domains (1) summary
      pfam07810
      Location:422 → 532
      TMC; TMC domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      117672396..117683963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533123.5 → XP_006533186.1  transmembrane channel-like protein 8 isoform X1

      See identical proteins and their annotated locations for XP_006533186.1

      UniProtKB/TrEMBL
      B0QZP6, Q571H8
      Conserved Domains (1) summary
      pfam07810
      Location:423 → 533
      TMC; TMC domain

    2. XM_017314497.3 → XP_017169986.1  transmembrane channel-like protein 8 isoform X4

      Conserved Domains (1) summary
      pfam07810
      Location:423 → 533
      TMC; TMC domain

    3. XM_017314496.2 → XP_017169985.1  transmembrane channel-like protein 8 isoform X3

      UniProtKB/TrEMBL
      Q571H8
      Conserved Domains (1) summary
      pfam07810
      Location:423 → 533
      TMC; TMC domain

    4. XM_030245909.1 → XP_030101769.1  transmembrane channel-like protein 8 isoform X2

      UniProtKB/Swiss-Prot
      Q3TAL0, Q3UWI0, Q7TN58, Q7TQ67
      UniProtKB/TrEMBL
      B1ATC0, Q571H8
      Conserved Domains (1) summary
      pfam07810
      Location:422 → 532
      TMC; TMC domain

    RNA

    1. XR_001779966.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TN58.2 GenPept UniProtKB/Swiss-Prot:Q7TN58

    Gene LinkOut

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

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