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    Tomt transmembrane O-methyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 791260, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Tomtprovided by MGI
    Official Full Name
    transmembrane O-methyltransferaseprovided by MGI
    Primary source
    MGI:MGI:3769724
    See related
    Ensembl:ENSMUSG00000078630 AllianceGenome:MGI:3769724
    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
    Comt2; F930017I19Rik
    Summary
    Enables catechol O-methyltransferase activity. Involved in several processes, including auditory receptor cell development; catecholamine catabolic process; and positive regulation of protein import. Located in apical part of cell and endoplasmic reticulum. Used to study autosomal recessive nonsyndromic deafness 63. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 63. Orthologous to several human genes including LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing) and TOMT (transmembrane O-methyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 2.9), CNS E14 (RPKM 2.7) and 28 other tissues See more
    Orthologs
    all
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    Genomic context

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    See Tomt in Genome Data Viewer
    Location:
    7 E2; 7 54.68 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (101549010..101555572, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (101899803..101906407, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_19700 Neighboring gene folate receptor alpha Neighboring gene predicted gene, 35597 Neighboring gene anaphase promoting complex C subunit 15 Neighboring gene STARR-positive B cell enhancer ABC_E2837 Neighboring gene STARR-positive B cell enhancer ABC_E1350 Neighboring gene STARR-positive B cell enhancer ABC_E1089 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 Neighboring gene leucine rich repeat containing 51 Neighboring gene STARR-positive B cell enhancer ABC_E554 Neighboring gene nuclear mitotic apparatus protein 1 Neighboring gene MYST histone acetyltransferase 1 pseudogene

    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 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. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Du X, et al. Proc Natl Acad Sci U S A, 2008 Sep 23. PMID 18794526, Free PMC Article
    2. The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells. Cunningham CL, et al. Elife, 2017 May 15. PMID 28504928, Free PMC Article
    3. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Ahmed ZM, et al. Nat Genet, 2008 Nov. PMID 18953341, Free PMC Article
    4. Lps2: a new locus required for responses to lipopolysaccharide, revealed by germline mutagenesis and phenotypic screening. Hoebe K, et al. J Endotoxin Res, 2003. PMID 12935356
    5. Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt). Erickson T, et al. Elife, 2017 May 23. PMID 28534737, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables catechol O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables catechol O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in auditory receptor cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in catecholamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in catecholamine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dopamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein import IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane O-methyltransferase homolog
    Names
    catechol O-methyltransferase 2
    NP_001075148.1
    NP_001269017.1
    XP_017167892.1

    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_001081679.1 → NP_001075148.1  transmembrane O-methyltransferase homolog

      See identical proteins and their annotated locations for NP_001075148.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same protein.
      Source sequence(s)
      DQ854743
      Consensus CDS
      CCDS40044.1
      UniProtKB/Swiss-Prot
      A1Y9I9
      Related
      ENSMUSP00000102583.2, ENSMUST00000106970.3
      Conserved Domains (1) summary
      COG4122
      Location:82 → 218
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]

    2. NM_001282088.1 → NP_001269017.1  transmembrane O-methyltransferase homolog

      See identical proteins and their annotated locations for NP_001269017.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      EU627091
      Consensus CDS
      CCDS40044.1
      UniProtKB/Swiss-Prot
      A1Y9I9
      Related
      ENSMUSP00000102582.2, ENSMUST00000106969.9
      Conserved Domains (1) summary
      COG4122
      Location:82 → 218
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      101549010..101555572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312403.3 → XP_017167892.1  transmembrane O-methyltransferase homolog isoform X1

      UniProtKB/Swiss-Prot
      A1Y9I9
      Conserved Domains (1) summary
      COG4122
      Location:82 → 218
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1Y9I9.1 GenPept UniProtKB/Swiss-Prot:A1Y9I9

    Gene LinkOut

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