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Aliases for LRTOMT Gene

Aliases for LRTOMT Gene

  • Leucine Rich Transmembrane And O-Methyltransferase Domain Containing 2 3
  • EC 2.1.1.6 4 63
  • LRRC51 3 4
  • DFNB63 3 6
  • Leucine Rich Transmembrane And 0-Methyltransferase Domain Containing 3
  • Leucine Rich Repeat Containing 51 2
  • Transmembrane O-Methyltransferase 3
  • Deafness, Autosomal Recessive 63 2
  • Catechol O-Methyltransferase 2 4
  • Protein LRTOMT1 4
  • Protein LRTOMT2 4
  • CFAP111 3
  • LRTOMT1 6
  • LRTOMT2 6
  • COMT2 4
  • TOMT 4

External Ids for LRTOMT Gene

Previous HGNC Symbols for LRTOMT Gene

  • LRRC51
  • DFNB63

Previous GeneCards Identifiers for LRTOMT Gene

  • GC11P071471
  • GC11P071792
  • GC11P068084

Summaries for LRTOMT Gene

Entrez Gene Summary for LRTOMT Gene

  • This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012]

GeneCards Summary for LRTOMT Gene

LRTOMT (Leucine Rich Transmembrane And O-Methyltransferase Domain Containing) is a Protein Coding gene. Diseases associated with LRTOMT include deafness, autosomal recessive 63 and dfnb63 nonsyndromic hearing loss and deafness. Among its related pathways are Phenylalanine metabolism. GO annotations related to this gene include catechol O-methyltransferase activity. An important paralog of this gene is COMT.

UniProtKB/Swiss-Prot for LRTOMT Gene

  • Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRTOMT Gene

Genomics for LRTOMT Gene

Regulatory Elements for LRTOMT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRTOMT Gene

Start:
72,080,331 bp from pter
End:
72,110,782 bp from pter
Size:
30,452 bases
Orientation:
Plus strand

Genomic View for LRTOMT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRTOMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRTOMT Gene

Proteins for LRTOMT Gene

  • Protein details for LRTOMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ04-TOMT_HUMAN
    Recommended name:
    Transmembrane O-methyltransferase
    Protein Accession:
    Q8WZ04
    Secondary Accessions:
    • B7Z816

    Protein attributes for LRTOMT Gene

    Size:
    291 amino acids
    Molecular mass:
    32155 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • In primates, this protein is produced by a bicistronic gene which also produces the LRRC51 protein from an overlapping reading frame. In rodents, these proteins are produced by 2 separate adjacent genes which together are orthologous to the single primate gene
    SequenceCaution:
    • Sequence=AAL55772.1; Type=Frameshift; Positions=91; Evidence={ECO:0000305};

    Alternative splice isoforms for LRTOMT Gene

    UniProtKB/Swiss-Prot:
  • Protein details for LRTOMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E66-LRC51_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 51
    Protein Accession:
    Q96E66
    Secondary Accessions:
    • B2R7X1
    • B6CZ35
    • B6CZ36
    • B6CZ37
    • B6CZ38
    • B6CZ39
    • B7Z5I4

    Protein attributes for LRTOMT Gene

    Size:
    192 amino acids
    Molecular mass:
    22206 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • In primates, this protein is produced by a bicistronic gene which also produces the TOMT protein from an overlapping reading frame. In rodents, these proteins are produced by 2 separate adjacent genes which together are orthologous to the single primate gene

    Alternative splice isoforms for LRTOMT Gene

neXtProt entry for LRTOMT Gene

Proteomics data for LRTOMT Gene at MOPED

Post-translational modifications for LRTOMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for LRTOMT Gene

Protein Domains for LRTOMT Gene

Suggested Antigen Peptide Sequences for LRTOMT Gene

Graphical View of Domain Structure for InterPro Entry

Q96E66

UniProtKB/Swiss-Prot:

LRC51_HUMAN :
  • Q96E66
  • Q8WZ04
Domain:
  • Contains 1 LRRCT domain.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-dependent O-methyltransferase family.
Similarity:
  • Contains 3 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRTOMT: view

No data available for Gene Families for LRTOMT Gene

Function for LRTOMT Gene

Molecular function for LRTOMT Gene

UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol.
UniProtKB/Swiss-Prot Function: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones (By similarity). Required for auditory function.

Enzyme Numbers (IUBMB) for LRTOMT Gene

Gene Ontology (GO) - Molecular Function for LRTOMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008171 O-methyltransferase activity --
GO:0016206 catechol O-methyltransferase activity ISS 18794526
genes like me logo Genes that share ontologies with LRTOMT: view
genes like me logo Genes that share phenotypes with LRTOMT: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRTOMT

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for LRTOMT Gene

Localization for LRTOMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRTOMT Gene

Isoform 1: Membrane; Single-pass membrane protein.
Isoform 2: Cytoplasm.
Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRTOMT Gene COMPARTMENTS Subcellular localization image for LRTOMT gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for LRTOMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRTOMT: view

Pathways for LRTOMT Gene

genes like me logo Genes that share pathways with LRTOMT: view

Pathways by source for LRTOMT Gene

1 BioSystems pathway for LRTOMT Gene

Interacting Proteins for LRTOMT Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000305742%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000247026%0d%0a
Selected Interacting proteins: ENSP00000305742 for LRTOMT Gene via STRING

Gene Ontology (GO) - Biological Process for LRTOMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound ISS 18794526
GO:0032259 methylation IEA --
GO:0042135 neurotransmitter catabolic process IEA --
GO:0042424 catecholamine catabolic process ISS 18794526
GO:0060117 auditory receptor cell development ISS 18794526
genes like me logo Genes that share ontologies with LRTOMT: view

Compounds for LRTOMT Gene

(5) HMDB Compounds for LRTOMT Gene

Compound Synonyms Cas Number PubMed IDs
(-)-Salsoline
  • (1S)-7-methoxy-1-methyl-1,2,3,4-tetrahydroisoquinolin-6-ol
89-31-6
4-methoxy-17beta-estradiol
  • 4-methoxyestradiol
362-07-2
Guaiacol
  • 1-Hydroxy-2-methoxybenzene
90-05-1
Pyrocatechol
  • 1,2-Dihydroxybenzene
120-80-9
Salsoline-1-carboxylate
  • 1-methyl-6-hydroxy-7-methoxy-1,2,3,4-tetrahydroisoquinoline-1-carboxylic acid
31758-50-6
genes like me logo Genes that share compounds with LRTOMT: view

Transcripts for LRTOMT Gene

Unigene Clusters for LRTOMT Gene

Leucine rich transmembrane and 0-methyltransferase domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRTOMT

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRTOMT Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5:
SP6: -
SP7: - - - - - -
SP8: - - - - - -
SP9: - -
SP10: - - - - - - - - -

Relevant External Links for LRTOMT Gene

GeneLoc Exon Structure for
LRTOMT
ECgene alternative splicing isoforms for
LRTOMT

Expression for LRTOMT Gene

mRNA expression in normal human tissues for LRTOMT Gene

mRNA differential expression in normal tissues according to GTEx for LRTOMT Gene

This gene is overexpressed in Testis (7.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LRTOMT Gene

SOURCE GeneReport for Unigene cluster for LRTOMT Gene Hs.317243

genes like me logo Genes that share expressions with LRTOMT: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for LRTOMT Gene

Orthologs for LRTOMT Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRTOMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRTOMT 35
  • 99.54 (n)
  • 99.31 (a)
cow
(Bos Taurus)
Mammalia LRTOMT 36
  • 96 (a)
OneToOne
TOMT 35
  • 89.89 (n)
  • 95.88 (a)
dog
(Canis familiaris)
Mammalia LRTOMT 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tomt 35
  • 86.56 (n)
  • 92.64 (a)
Tomt 16
Tomt 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LRTOMT 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tomt 35
  • 85.66 (n)
  • 91.86 (a)
lizard
(Anolis carolinensis)
Reptilia LRTOMT 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15885 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490284 35
  • 63.4 (n)
  • 56.86 (a)
zebrafish
(Danio rerio)
Actinopterygii comtb 36
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6621 36
  • 22 (a)
OneToOne
Species with no ortholog for LRTOMT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRTOMT Gene

ENSEMBL:
Gene Tree for LRTOMT (if available)
TreeFam:
Gene Tree for LRTOMT (if available)

Paralogs for LRTOMT Gene

Paralogs for LRTOMT Gene

genes like me logo Genes that share paralogs with LRTOMT: view

Variants for LRTOMT Gene

Sequence variations from dbSNP and Humsavar for LRTOMT Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs482013 -- 72,092,916(-) GGCAA(C/T)ATGGT intron-variant
rs493065 -- 72,085,883(-) CATGC(A/G)AAAGA intron-variant
rs495567 -- 72,084,442(+) CGATA(C/T)ATAGT intron-variant
rs505041 -- 72,089,346(-) TCAAA(A/T)CAAAC intron-variant
rs517837 -- 72,091,313(-) CCCCA(C/T)ACCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRTOMT Gene

Variant ID Type Subtype PubMed ID
nsv428262 CNV Gain+Loss 18775914
nsv384 CNV Insertion 18451855
nsv825989 CNV Loss 20364138

Relevant External Links for LRTOMT Gene

HapMap Linkage Disequilibrium report
LRTOMT
Human Gene Mutation Database (HGMD)
LRTOMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRTOMT Gene

Disorders for LRTOMT Gene

(1) OMIM Diseases for LRTOMT Gene (612414)

UniProtKB/Swiss-Prot

LRC51_HUMAN
  • Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:18794526, ECO:0000269 PubMed:18953341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with LRTOMT: view

Publications for LRTOMT Gene

  1. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. (PMID: 18794526) Du X. … Beutler B. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3 4
  2. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (PMID: 18953341) Ahmed Z.M. … Kremer H. (Nat. Genet. 2008) 2 3 4
  3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  4. Deafness and Hereditary Hearing Loss Overview (PMID: 20301607) Pagon R.A. … Stephens K. ( 1993) 3
  5. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. (PMID: 21739586) Vanwesemael M. … Van Camp G. (Am. J. Med. Genet. A 2011) 3

Products for LRTOMT Gene

  • antibodies-online proteins for LRTOMT
  • antibodies-online antibodies for LRTOMT
  • antibodies-online kits for LRTOMT

Sources for LRTOMT Gene

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