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

Summary

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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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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General protein information

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Preferred Names: transmembrane O-methyltransferase

NP_001380429.1

EC 2.1.1.6

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)

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]