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LRTOMT Gene

protein-coding   GIFtS: 49
GCID: GC11P071792

Leucine Rich Transmembrane And O-Methyltransferase Domain...

(Previous names: leucine rich repeat containing 51, deafness, autosomal recessive...)
(Previous symbols: LRRC51, DFNB63)
  See LRTOMT-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 nonsyndromic deafness. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for LRTOMT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LRC51_HUMAN, Q96E66 (See protein sequence)
Recommended Name: Leucine-rich repeat-containing protein 51  
Size: 192 amino acids; 22206 Da
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
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

Selected DME Specific Peptides for LRTOMT (Q8WZ04) (see all 6)
 RLLTVERD  YLRDLQLLEAHALLP  LPDFPAIKDGIAQLTY  RDCLSGLRIEERAFSYV 


See LRTOMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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  

LRTOMT Human Recombinant Protein Products:

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Novus Biologicals LRTOMT Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for LRTOMT

 
Search eBioscience for Proteins for LRTOMT 

 
antibodies-online proteins for LRTOMT (5 products) 

 
Search antibodies-online for peptides for LRTOMT

LRTOMT Antibody Products:

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Abcam antibodies for LRTOMT
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Search ThermoFisher Antibodies for LRTOMT
antibodies-online antibodies for LRTOMT (3 products) 

LRTOMT Assay Products:

Browse Kits and Assays available from EMD Millipore
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Cloud-Clone Corp. ELISAs for LRTOMT
Cloud-Clone Corp. CLIAs for LRTOMT
Search eBioscience for ELISAs for LRTOMT 
antibodies-online kits for LRTOMT (9 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 class I-like SAM-binding methyltransferase superfamily. Cation-dependent
O-methyltransferase family


Find genes that share domains with LRTOMT           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008171O-methyltransferase activity ----
GO:0016206catechol O-methyltransferase activity ISS18794526
     
Find genes that share ontologies with LRTOMT           About GenesLikeMe


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/body  hearing/vestibular/ear  nervous system 

Find genes that share phenotypes with LRTOMT           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for LRTOMT

miRNA
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Block miRNA regulation of human, mouse, rat LRTOMT using miScript Target Protectors
Selected qRT-PCR 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
Products:
    
OriGene RNAi products in human, mouse, rat for LRTOMT
Predesigned siRNA for gene silencing in human, mouse, rat LRTOMT

Gene Editing
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DNA2.0 Custom Protein Engineering Service for LRTOMT

Clone
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OriGene clones in human, mouse for LRTOMT (see all 28)
OriGene ORF clones in mouse, rat for LRTOMT
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): LRTOMT (NM_001145307)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRTOMT
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRTOMT

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for LRTOMT 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRTOMT


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
LRC51_HUMAN, Q96E66: Cytoplasm (By similarity)
TOMT_HUMAN, Q8WZ04: Isoform 1: Membrane; Single-pass membrane protein (Potential)
TOMT_HUMAN, Q8WZ04: Isoform 2: Cytoplasm (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2

Gene Ontology (GO): 3 cellular component terms:    About this table

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

Find genes that share ontologies with LRTOMT           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for LRTOMT About    
See pathways by source

SuperPathContained pathways About
1Phenylalanine metabolism
noradrenaline and adrenaline degradation0.31


1 BioSystems Pathway for LRTOMT
    noradrenaline and adrenaline degradation


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LRTOMT
Interactions:

    Search GeneGlobe Interaction Network for LRTOMT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for LRTOMT (ENSP000002894884) via UniProtKB, MINT, STRING, and/or I2D (see all 124)
InteractantInteraction Details
GeneCardExternal ID(s)
PRPF19ENSP000002275244STRING: ENSP00000227524
CRNKL1ENSP000003665574STRING: ENSP00000366557
ISY1ENSP000003769734STRING: ENSP00000376973
LSM6ENSP000002965814STRING: ENSP00000296581
PLRG1ENSP000003031914STRING: ENSP00000303191
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Gene Ontology (GO): 4 biological process terms:    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

Find genes that share ontologies with LRTOMT           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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--



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
Selected 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
miRNA
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Selected qRT-PCR 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
Products:
     
OriGene RNAi products in human, mouse, rat for LRTOMT
Predesigned siRNA for gene silencing in human, mouse, rat LRTOMT
Clone
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OriGene clones in human, mouse for LRTOMT (see all 28)
OriGene ORF clones in mouse, rat for LRTOMT
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 4): LRTOMT (NM_001145307)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for LRTOMT
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LRTOMT
Primer
Products:
    
OriGene qPCR primer pairs and template standards for LRTOMT
OriGene qSTAR qPCR primer pairs in human, mouse for LRTOMT
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LRTOMT
  QuantiTect SYBR Green Assays in human, mouse, rat LRTOMT
  QuantiFast Probe-based Assays in human, mouse, rat LRTOMT

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 

Selected AceView cDNA sequences (see all 117):

AW204388 AA464060 BI828630 CA312512 AI142365 BX102437 BM704196 BU579679 
CK902283 BM553251 CK821510 C04741 BM353606 AI288164 BX115135 CB268986 
AI671544 AI652845 AI911594 BI828023 BU579918 BU729740 Z40955 BM987914 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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

LRTOMT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

LRTOMT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.317243
    Custom PCR Arrays for LRTOMT
Primer
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OriGene qPCR primer pairs and template standards for LRTOMT
OriGene qSTAR qPCR primer pairs in human, mouse for LRTOMT
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QuantiFast Probe-based Assays in human, mouse, rat LRTOMT
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRTOMT

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for LRTOMT gene from Selected species (see all 12)    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 
lizard
(Anolis carolinensis)
Reptilia LRTOMT6
leucine rich transmembrane and O-methyltransferase...
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 
zebrafish
(Danio rerio)
Actinopterygii comtb6
catechol-O-methyltransferase b
33(a)
many ↔ many
11(26553451-26565001) ENSDARG00000025679


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)
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Paralogs for LRTOMT gene
COMT2  
Selected 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    ECD
SENP7    WDR6    GALK2    NDUFS7    PSD3    TJP1
ATL2    COX7A2    LAMA5    ZNF568    ZNHIT3    BUB1B

Find genes that share paralogs with LRTOMT           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for LRTOMT (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
----------
rs617411951,2,,4
CDeafness, autosomal recessive, 63 (DFNB63)4 --71683664(+) GAGTCG/AGGCAG 6 /Q /R mis11Minor allele frequency- A:0.01NS 72
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--------
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
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing LRTOMT
DNA2.0 Custom Variant and Variant Library Synthesis for LRTOMT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

  • 5 diseases for LRTOMT:    
    About MalaCards
    deafness, autosomal recessive 63    nonsyndromic deafness    dfnb63 nonsyndromic hearing loss and deafness    autosomal recessive nonsyndromic deafness
    deafness, autosomal recessive 76


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    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)
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    PubMed articles for LRTOMT gene, integrated from 10 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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    3. The c.242G&gt;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. (Mol. Biol. Rep. 2012)
    4. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. (PubMed id 21739586)1 Vanwesemael M....Van Camp G. (Am. J. Med. Genet. A 2011)
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 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. (J. Mol. Med. 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. (Ann. Hum. Genet. 2007)
    8. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (PubMed id 17066295)1 Khan S.Y....Riazuddin S. (Hum. Genet. 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. (Genome Res. 2006)
    10. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 220074 HGNC: 25033 AceView: LOC220074 Ensembl:ENSG00000184154 euGenes: HUgn220074
    ECgene: LRTOMT H-InvDB: LRTOMT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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