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

Gene ID: 217356, updated on 5-Mar-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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See Tmc8 in Genome Data Viewer
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

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