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    Tm6sf2 transmembrane 6 superfamily member 2 [ Mus musculus (house mouse) ]

    Gene ID: 107770, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tm6sf2provided by MGI
    Official Full Name
    transmembrane 6 superfamily member 2provided by MGI
    Primary source
    MGI:MGI:1933210
    See related
    Ensembl:ENSMUSG00000036151 AllianceGenome:MGI:1933210
    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
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in lipid homeostasis and regulation of lipid metabolic process. Predicted to be active in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. Is expressed in lower urinary tract and testis. Orthologous to human TM6SF2 (transmembrane 6 superfamily member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in duodenum adult (RPKM 496.8), small intestine adult (RPKM 426.9) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tm6sf2 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.15 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (70525574..70532716)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (70072924..70080066)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_21762 Neighboring gene MAU2 sister chromatid cohesion factor Neighboring gene STARR-positive B cell enhancer ABC_E9314 Neighboring gene SURP and G patch domain containing 1 Neighboring gene hyaluronan and proteoglycan link protein 4 Neighboring gene neurocan Neighboring gene microRNA 7066

    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. Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2. Fan Y, et al. iScience, 2021 Nov 19. PMID 34746691, Free PMC Article
    2. Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins. Smagris E, et al. J Biol Chem, 2016 May 13. PMID 27013658, Free PMC Article
    3. Hepatic Transmembrane 6 Superfamily Member 2 Regulates Cholesterol Metabolism in Mice. Fan Y, et al. Gastroenterology, 2016 May. PMID 26774178, Free PMC Article
    4. Myeloid TM6SF2 Deficiency Inhibits Atherosclerosis. Zhu W, et al. Cells, 2022 Sep 15. PMID 36139452, Free PMC Article
    5. Liver-Specific Deletion of Mouse Tm6sf2 Promotes Steatosis, Fibrosis, and Hepatocellular Cancer. Newberry EP, et al. Hepatology, 2021 Sep. PMID 33638902, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Myeloid TM6SF2 Deficiency Inhibits Atherosclerosis.
      Title: Myeloid TM6SF2 Deficiency Inhibits Atherosclerosis.
    2. Liver-Specific Deletion of Mouse Tm6sf2 Promotes Steatosis, Fibrosis, and Hepatocellular Cancer.
      Title: Liver-Specific Deletion of Mouse Tm6sf2 Promotes Steatosis, Fibrosis, and Hepatocellular Cancer.
    3. Expression of TM6SF2 promoted cholesterol biosynthesis in hepatocytes.
      Title: Hepatic Transmembrane 6 Superfamily Member 2 Regulates Cholesterol Metabolism in Mice.
    4. Despite TM6SF2 being located in the endoplasmic reticulum and Golgi complex, the lipids that accumulate in its absence reside in lipid droplets.
      Title: Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of lipid metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of lipid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum-Golgi intermediate compartment membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane 6 superfamily member 2

    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_001293795.1 → NP_001280724.1  transmembrane 6 superfamily member 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC167132
      Consensus CDS
      CCDS80889.1
      UniProtKB/Swiss-Prot
      Q8BIG1, Q8R1J1
      UniProtKB/TrEMBL
      E9QM19
      Related
      ENSMUSP00000105788.3, ENSMUST00000110160.9
      Conserved Domains (1) summary
      pfam10914
      Location:218 → 357
      DUF2781; Protein of unknown function (DUF2781)

    2. NM_181540.4 → NP_853518.1  transmembrane 6 superfamily member 2 isoform 2

      See identical proteins and their annotated locations for NP_853518.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.
      Source sequence(s)
      AC167132, AK077126, BB869951
      Consensus CDS
      CCDS22357.1
      UniProtKB/Swiss-Prot
      Q8BIG1, Q8R1J1
      UniProtKB/TrEMBL
      A0A0R4J0J9
      Related
      ENSMUSP00000046114.6, ENSMUST00000049197.6
      Conserved Domains (1) summary
      pfam10914
      Location:216 → 355
      DUF2781; Protein of unknown function (DUF2781)

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      70525574..70532716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R1J1.2 GenPept UniProtKB/Swiss-Prot:Q8R1J1

    Gene LinkOut

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

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