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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive nonsyndromic hearing loss 63 Pathogenic; Likely pathogenic rs137853185, rs137853186, rs137853187, rs137853188, rs1391956558, rs545947177, rs780468292, rs797044907, rs1565331646, rs1298804148 RCV000000573
RCV000000574
RCV000000575
RCV000000576
RCV002283829
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness Pathogenic; Likely pathogenic rs137853185, rs545947177 RCV000603810
RCV000211724
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 63 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hearing impairment Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14504192
★☆☆☆☆
Found in Text Mining only
Congenital sensorineural hearing loss Congenital Sensorineural Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 34514748 Associate
★☆☆☆☆
Found in Text Mining only
Deafness Autosomal Recessive Deafness Pubtator 24926664 Associate
★☆☆☆☆
Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 63 Deafness CLINGEN_DG 18794526, 18953341, 21739586, 23053991
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 63 Deafness UNIPROT_DG 18794526, 18953341, 28281779
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 63 Deafness GENOMICS_ENGLAND_DG 18794526, 18953341
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 63 Deafness CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 63 Deafness CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations