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    TOMT transmembrane O-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 120356740, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TOMTprovided by HGNC
    Official Full Name
    transmembrane O-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:55527
    See related
    Ensembl:ENSG00000284844 AllianceGenome:HGNC:55527
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COMT2
    Summary
    This gene encodes a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. Readthrough transcription is observed across this gene and the adjacent leucine-rich repeat containing 51 gene. A third locus (GeneID:220074) is defined to represent the readthrough transcripts. [provided by RefSeq, Feb 2021]
    Orthologs
    all
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    Genomic context

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    See TOMT in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72105924..72109596)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72032814..72036486)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71816970..71820642)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene leucine rich transmembrane and O-methyltransferase domain containing Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3713 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71814909-71815429 Neighboring gene uncharacterized LOC124902837 Neighboring gene anaphase promoting complex subunit 15 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71823011-71823548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71823549-71824086 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71824087-71824624 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71849877-71850378 Neighboring gene folate receptor gamma

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Sarmadi A, et al. BMC Med Genet, 2020 Jun 9. PMID 32517708, Free PMC Article
    2. Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance. Ichinose A, et al. Ann Otol Rhinol Laryngol, 2015 May. PMID 25788562
    3. The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. Charif M, et al. Mol Biol Rep, 2012 Dec. PMID 23053991
    4. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. Vanwesemael M, et al. Am J Med Genet A, 2011 Aug. PMID 21739586
    5. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. Kalay E, et al. J Mol Med (Berl), 2007 Apr. PMID 17211611

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Homology

    General protein information

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    Preferred Names
    transmembrane O-methyltransferase
    NP_001380429.1

    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_001393500.2 → NP_001380429.1  transmembrane O-methyltransferase

      Status: VALIDATED

      Source sequence(s)
      AP000812
      Consensus CDS
      CCDS91529.1
      UniProtKB/TrEMBL
      A0A2R8Y5M8
      Related
      ENSP00000494667.1, ENST00000541899.3
      Conserved Domains (1) summary
      COG4122
      Location:82 → 218
      YrrM; Predicted O-methyltransferase YrrM [General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      72105924..72109596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      72032814..72036486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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