Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
220074
Gene name Gene Name - the full gene name approved by the HGNC.
Leucine rich transmembrane and O-methyltransferase domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LRTOMT
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP111, DFNB63, LRRC51, LRRC51-TOMT, TOMT
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.4
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612414 25033 ENSG00000284922
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal recessive nonsyndromic hearing loss 63 rs137853185, rs137853186, rs137853187, rs137853188, rs545947177, rs797044907, rs1565331646 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hearing Loss Hearing loss, autosomal recessive N/A N/A ClinVar
Associations from Text Mining Disease 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