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

Gene ID: 120356740, updated on 21-Mar-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
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Genomic context

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Location:
11q13.4
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72105924..72109596)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72032814..72036486)
105.20220307 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_2023_10

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

Gene LinkOut

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