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

Gene ID: 791260, updated on 11-Apr-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 human LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing). [provided by Alliance of Genome Resources, Apr 2022]
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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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
  • 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)
  • Gene trapped (1) 
  • Chemically induced (ENU) (1)  1 citation
  • Endonuclease-mediated (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 O-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
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 methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within catecholamine metabolic process IEA
Inferred from Electronic Annotation
more info
  
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
  
acts_upstream_of_or_within 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

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