Gene Gene information from NCBI Gene database.
Entrez ID 220074
Gene name Leucine rich transmembrane and O-methyltransferase domain containing
Gene symbol LRTOMT
Synonyms (NCBI Gene)
CFAP111DFNB63LRRC51LRRC51-TOMTTOMT
Chromosome 11
Chromosome location 11q13.4
Summary This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT694485 hsa-miR-548c-3p HITS-CLIP 23313552
MIRT694484 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT694483 hsa-miR-3974 HITS-CLIP 23313552
MIRT694482 hsa-miR-6502-3p HITS-CLIP 23313552
MIRT694481 hsa-miR-6888-5p HITS-CLIP 23313552
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612414 25033 ENSG00000284922
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WZ04
Protein name Transmembrane O-methyltransferase (EC 2.1.1.6) (Catechol O-methyltransferase 2) (Protein LRTOMT2)
Protein function Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function (PubMed:18794526). Component of the cochlear hair cell's mechanotransduction (MET
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01596 Methyltransf_3 96 252 O-methyltransferase Domain
Sequence
MGTPWRKRKGIAGPGLPDLSCALVLQPRAQVGTMSPAIALAFLPLVVTLLVRYRHYFRLL
VRTVLLRSLRDCLSGLRIEERAFSYVLTHALPGDPGHILTTLDHWSSRCEYLSHMGPVKG
QILMRLVEEKAPACVLELGTYCGYSTLLIARALPPGGRLLTVERDPRTAAVAEKLIRLAG
FDEHMVELIVGSSEDVIPCLRTQYQLSRADLVLLAHRPRCYLRDLQLLEAHALLPAGATV
LADHVLFPGAPR
FLQYAKSCGRYRCRLHHTGLPDFPAIKDGIAQLTYAGPG
Sequence length 291
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Tyrosine metabolism
Metabolic pathways
Dopaminergic synapse
  Enzymatic degradation of dopamine by COMT
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
107
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 63 Pathogenic; Likely pathogenic rs137853185, rs137853186, rs137853187, rs137853188, rs1391956558, rs545947177, rs780468292, rs797044907, rs1565331646, rs1298804148 RCV000000573
RCV000000574
RCV000000575
RCV000000576
RCV002283829
RCV000156590
RCV002471368
RCV001449954
RCV000770827
RCV000779080
Rare genetic deafness Pathogenic; Likely pathogenic rs137853185, rs545947177 RCV000603810
RCV000211724
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hearing impairment Uncertain significance rs746981074 RCV001375107
Hearing loss, autosomal recessive Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs561551303, rs190307646, rs191758747, rs111537544, rs139554095, rs886048628, rs561766061, rs73543612, rs17161980, rs373529881, rs12272086 RCV004577823
RCV004577816
RCV004577819
RCV004577815
RCV004577817
RCV004577818
RCV004577820
RCV004577821
RCV004577822
RCV004577824
RCV004577714
LRTOMT-related disorder Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs530987072, rs570774925, rs76657474, rs556093010, rs537610140, rs1372207779, rs373088272 RCV003973330
RCV003898544
RCV003955254
RCV003897697
RCV003977889
RCV003923877
RCV003910127
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Deafness Associate 34514748
Deafness Autosomal Recessive Associate 24926664
Hearing Loss Associate 28281779, 36928321
Hearing Loss Sensorineural Associate 31835641
Nonsyndromic Deafness Associate 31389194, 36928321