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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LRTOMT Gene

protein-coding   GIFtS: 50
GCID: GC11P071792

Leucine Rich Transmembrane And O-Methyltransferase Domain...

(Previous names: leucine rich repeat containing 51, deafness, autosomal recessive...)
(Previous symbols: LRRC51, DFNB63)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Leucine Rich Transmembrane And O-Methyltransferase Domain
Containing1 2
     COMT23
LRRC511 2 3     TOMT3
DFNB631 2 5     Catechol O-Methyltransferase 23
EC 2.1.1.63 8     Protein LRTOMT13
Deafness, Autosomal Recessive 631     Protein LRTOMT23
Leucine Rich Repeat Containing 511     LRTOMT15
Leucine Rich Transmembrane And 0-Methyltransferase Domain Containing2     LRTOMT25
Transmembrane O-Methyltransferase2     

External Ids:    HGNC: 250331   Entrez Gene: 2200742   Ensembl: ENSG000001841547   OMIM: 6124145   UniProtKB: Q96E663   
UniProtKB: Q8WZ043   

Export aliases for LRTOMT gene to outside databases

Previous GC identifers: GC11P071471 GC11P068084


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 nonsyndromic deafness, and deafness, autosomal recessive 63, and among its related super-pathways are phenylalanine utilization. GO annotations related to this gene include catechol O-methyltransferase activity. An important paralog of this gene is COMT.

UniProtKB/Swiss-Prot: TOMT_HUMAN, Q8WZ04
Function: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and
catechol hormones (By similarity). Required for auditory function




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LRTOMT gene promoter:
         Sox5   FOXD1   STAT3   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLRTOMT promoter sequence
   Search SABiosciences Chromatin IP Primers for LRTOMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRTOMT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

LRTOMT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRTOMT gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P071792:  view genomic region     (about GC identifiers)

Start:
71,791,377 bp from pter      End:
71,821,828 bp from pter
Size:
30,452 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LRC51_HUMAN, Q96E66 (See protein sequence)
Recommended Name: Leucine-rich repeat-containing protein 51  
Size: 192 amino acids; 22206 Da
Subcellular location: Cytoplasm (By similarity)
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
Secondary accessions: B2R7X1 B6CZ35 B6CZ36 B6CZ37 B6CZ38 B6CZ39 B7Z5I4
Alternative splicing: 6 isoforms:  Q96E66-1   Q96E66-2   Q96E66-3   Q96E66-4   Q96E66-5   Q96E66-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

UniProtKB/Swiss-Prot: TOMT_HUMAN, Q8WZ04 (See protein sequence)

Recommended Name: Transmembrane O-methyltransferase  
Size: 291 amino acids; 32155 Da
Subcellular location: Isoform 1: Membrane; Single-pass membrane protein (Potential)
Subcellular location: Isoform 2: Cytoplasm (By similarity)
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
Sequence caution: Sequence=AAL55772.1; Type=Frameshift; Positions=91;
Secondary accessions: B7Z816
Alternative splicing: 2 isoforms:  Q8WZ04-1   Q8WZ04-2   Q96E66-3   Q96E66-4   Q96E66-5   Q96E66-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for LRTOMT: NX_Q8WZ04

Explore proteomics data for LRTOMT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WZ04

  • 4/6 DME Specific Peptides for LRTOMT (Q8WZ04) (see all 6)
     RLLTVERD  YLRDLQLLEAHALLP  LPDFPAIKDGIAQLTY  RDCLSGLRIEERAFSYV 

    LRTOMT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LRTOMT Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001138779.1  NP_001138780.1  NP_001138781.1  NP_001138782.1  NP_001192067.1  NP_001258400.1  NP_660352.1  

    ENSEMBL proteins: 
     ENSP00000438762   ENSP00000437561   ENSP00000289488   ENSP00000442267   ENSP00000441249  
     ENSP00000437649   ENSP00000444583   ENSP00000440693   ENSP00000395139   ENSP00000409403  
     ENSP00000440969   ENSP00000440248   ENSP00000438522   ENSP00000437985   ENSP00000443421  
     ENSP00000390485   ENSP00000414271   ENSP00000392233   ENSP00000409789   ENSP00000305742  

    Human Recombinant Protein Products for LRTOMT: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LRTOMT 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--
    GO:0016021integral to membrane IEA--

    LRTOMT for ontologies           About GeneDecksing



    LRTOMT Antibody Products: 
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    Abcam antibodies for LRTOMT
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    LSBio Antibodies in human, mouse, rat for LRTOMT 

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LRTOMT 
    Cloud-Clone Corp. CLIAs for LRTOMT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025782 Catechol_O-MeTrfase
     IPR002935 O-MeTrfase_3

    Graphical View of Domain Structure for InterPro Entry Q96E66
    Graphical View of Domain Structure for InterPro Entry Q8WZ04

    ProtoNet protein and cluster: Q96E66

    1 Blocks protein domain: IPB001611 Leucine-rich repeat signature

    UniProtKB/Swiss-Prot: LRC51_HUMAN, Q96E66
    Similarity: Contains 3 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain

    UniProtKB/Swiss-Prot: TOMT_HUMAN, Q8WZ04
    Similarity: Belongs to the methyltransferase superfamily. Catechol-O-methyltransferase family


    LRTOMT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TOMT_HUMAN, Q8WZ04
    Function: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and
    catechol hormones (By similarity). Required for auditory function
    Catalytic activity: S-adenosyl-L-methionine + a catechol = S-adenosyl-L-homocysteine + a guaiacol

         Enzyme Number (IUBMB): EC 2.1.1.61 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008171O-methyltransferase activity ----
    GO:0016206catechol O-methyltransferase activity ISS18794526
         
    LRTOMT for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for LRTOMT:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tomt):
     behavior/neurological  growth/size  hearing/vestibular/ear  nervous system 

    LRTOMT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LRTOMT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LRTOMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LRTOMT 
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    miRNA
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    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate LRTOMT (see all 27):
    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-185* hsa-miR-146a hsa-miR-3616-5p hsa-miR-548s hsa-miR-486-3p hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidLRTOMT 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of LRTOMT 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRTOMT


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LRTOMT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1phenylalanine utilization
    noradrenaline and adrenaline degradation0.31


    1 BioSystems Pathway for LRTOMT
        noradrenaline and adrenaline degradation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LRTOMT

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for LRTOMT (ENSP000002894884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound ISS18794526
    GO:0042135neurotransmitter catabolic process IEA--
    GO:0042424catecholamine catabolic process ISS18794526
    GO:0060117auditory receptor cell development ISS18794526

    LRTOMT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LRTOMT (TOMT)

    5 HMDB Compounds for LRTOMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    (-)-Salsoline(1S)-7-methoxy-1-methyl-1,2,3,4-tetrahydroisoquinolin-6-ol (see all 2)89-31-6--
    4-methoxy-17beta-estradiol4-methoxyestradiol;4-methoxy-1,3,5[10]-estratriene-3,17beta-diol;4-methoxy-3,17beta-dihydroxy-1,3,5[10]-estratriene;4-MeOE2;3,4,17beta-trihydroxy-1,3,5[10]-estratriene 4-methyl ether;3,17beta-dihydroxy-4-methoxy-1,3,5[10]-estratriene 362-07-2--
    Guaiacol1-Hydroxy-2-methoxybenzene (see all 26)90-05-1--
    Pyrocatechol1,2-Dihydroxybenzene (see all 20)120-80-9--
    Salsoline-1-carboxylate1-methyl-6-hydroxy-7-methoxy-1,2,3,4-tetrahydroisoquinoline-1-carboxylic acid;SLN-1C;Salsoline-1-carboxylic acid 31758-50-6--

    Search CenterWatch for drugs/clinical trials and news about LRTOMT / TOMT

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LRTOMT gene (7 alternative transcripts): 
    NM_001145307.4  NM_001145308.4  NM_001145309.3  NM_001145310.3  NM_001205138.3  NM_001271471.2  NM_145309.5  

    Unigene Cluster for LRTOMT:

    Leucine rich transmembrane and 0-methyltransferase domain containing
    Hs.317243  [show with all ESTs]
    Unigene Representative Sequence: NM_001145309
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000538413 ENST00000535883 ENST00000289488(uc001orr.3 uc010rqu.2 uc009ysz.3 uc009yta.3)
    ENST00000412777 ENST00000539271 ENST00000423494 ENST00000539587 ENST00000538478
    ENST00000324866(uc010rqt.2) ENST00000439209 ENST00000427369 ENST00000544409
    ENST00000542846 ENST00000541614 ENST00000537483 ENST00000536917 ENST00000440313
    ENST00000541899
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    hsa-miR-26a-2* hsa-miR-3938 hsa-miR-185* hsa-miR-146a hsa-miR-3616-5p hsa-miR-548s hsa-miR-486-3p hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidLRTOMT 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF289588.1 AK298997.1 AK302772.1 AK311690.1 AK313150.1 AK315892.1 BC012855.1 EU627066.1 
    EU627067.1 EU627068.1 EU627069.1 EU627070.1 NR_026886.3 

    23 DOTS entries:

    DT.414068  DT.100881038  DT.95346484  DT.95257502  DT.40308205  DT.448720  DT.95340741  DT.100662830 
    DT.120711933  DT.120712088  DT.120711908  DT.85105330  DT.91640431  DT.95245950  DT.95368203  DT.102824953 
    DT.120711941  DT.120712013  DT.120712015  DT.86847194  DT.100687598  DT.120712098  DT.121281162 

    24/117 AceView cDNA sequences (see all 117):

    CK821511 BU579918 C04741 CA312512 BX115135 BU579679 AI671544 BM553251 
    CK821510 CK902283 BM987914 AI911594 AI142365 BX102437 BM353606 AI288164 
    AI652845 BU729740 BI828630 CB268986 BM704196 AW204388 BI828023 AA464060 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for LRTOMT (see all 10)    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for LRTOMT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LRTOMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LRTOMT Expression
    About this image


    See LRTOMT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LRTOMT

    SOURCE GeneReport for Unigene cluster: Hs.317243
        SABiosciences Custom PCR Arrays for LRTOMT
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for LRTOMT gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tomt1 , 5 transmembrane O-methyltransferase1, 5 86.56(n)1
    92.64(a)1
      7 (54.68 cM)5
    7912601  NM_001081679.11  NP_001075148.11 
     1018983735 
    chicken
    (Gallus gallus)
    Aves LOC1008574361 transmembrane O-methyltransferase-like 64.71(n)
    62.94(a)
      100857436  XM_003643435.1  XP_003643483.1 
    lizard
    (Anolis carolinensis)
    Reptilia LRTOMT6
    Uncharacterized protein
    64(a)
    1 ↔ 1
    GL343792.1(25697-33296)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158852 Xenopus laevis transcribed sequence with weak similarity more 71.04(n)    CB592548.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LRTOMT gene
    COMT2  
    18/45 SIMAP similar genes for LRTOMT using alignment to 10 protein entries:     LRC51_HUMAN (see all proteins) (see all similar genes):
    ZNF23    KLHDC1    SUN3    TGFBR3    C12orf23    SENP7
    WDR6    GALK2    NDUFS7    PSD3    TJP1    ATL2
    COX7A2    LAMA5    ZNF568    ZNHIT3    BUB1B    C19orf47

    LRTOMT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/672 SNPs in LRTOMT are shown (see all 672)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549574
    Deafness, autosomal recessive, 63 (DFNB63)4--see VAR_0549572 E K mis40--------
    VAR_0475544
    Deafness, autosomal recessive, 63 (DFNB63)4--see VAR_0475542 L P mis40--------
    VAR_0549554
    Deafness, autosomal recessive, 63 (DFNB63)4--see VAR_0549552 R Q mis40--------
    VAR_0549564
    Deafness, autosomal recessive, 63 (DFNB63)4--see VAR_0549562 W R mis40--------
    VAR_0475554
    Deafness, autosomal recessive, 63 (DFNB63)4--see VAR_0475552 R H mis40--------
    rs617411951,2,4
    CDeafness, autosomal recessive, 63 (DFNB63)4 --71683664(+) GAGTCG/AGGCAG 6 /Q /R mis11Minor allele frequency- A:0.01NS 72
    rs797716051,2
    --71653521(+) AGAATA/TCAAGT 8 -- us2k10--------
    rs1428631851,2
    C--71653631(+) TGTACC/TGCTTT 8 -- us2k10--------
    rs1824848351,2
    --71653733(+) AAGTAC/TGTGGT 8 -- us2k10--------
    rs1440934211,2
    C--71653819(+) CTACC-/TTACATG
    ATCCTCATG
    TTCGC
    8 -- us2k10--------

    HapMap Linkage Disequilibrium report for LRTOMT (71791377 - 71821828 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LRTOMT:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv384CNV Insertion18451855
    nsv825989CNV Loss20364138
    nsv428262CNV Gain+Loss18775914


    Human Gene Mutation Database (HGMD): LRTOMT
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612414   
    OMIM disorders: 611451  
    UniProtKB/Swiss-Prot: TOMT_HUMAN, Q8WZ04
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for LRTOMT:    About MalaCards
    nonsyndromic deafness    deafness, autosomal recessive 63    dfnb63 nonsyndromic hearing loss and deafness    autosomal recessive nonsyndromic deafness
    nonsyndromic hearing loss and deafness, autosomal recessive    sensorineural hearing loss    tuberculosis


    LRTOMT for disorders           About GeneDecksing


    Export disorders for LRTOMT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LRTOMT gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with LRTOMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (PubMed id 18953341)1, 2, 3 Ahmed Z.M....Kremer H. (2008)
    2. A catechol-O-methyltransferase that is essential for auditory function in mice and humans. (PubMed id 18794526)1, 2, 3 Du X....Beutler B. (2008)
    3. The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. (PubMed id 23053991)1 Charif M....Barakat A. (2012)
    4. A 1 bp deletion in the dual reading frame deafness ge ne LRTOMT causes a frameshift from the first into the second reading frame. (PubMed id 21739586)1 Vanwesemael M....Van Camp G. (2011)
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    6. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. (PubMed id 17211611)1 Kalay E....Kremer H. (2007)
    7. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4. (PubMed id 17166180)1 Tlili A....Ayadi H. (2007)
    8. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (PubMed id 17066295)1 Khan S.Y....Riazuddin S. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 220074 HGNC: 25033 AceView: LOC220074 Ensembl:ENSG00000184154 euGenes: HUgn220074
    ECgene: LRTOMT H-InvDB: LRTOMT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LRTOMT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LRTOMT gene:
    Search GeneIP for patents involving LRTOMT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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