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MT-TL2 Gene

RNA gene   GIFtS: 20
GCID: GCMTP012268

Mitochondrially Encoded TRNA Leucine 2 (CUN)

(Previous name: tRNA leucine 2 (CUN))
(Previous symbol: MTTL2)
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(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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Subcategory (RNA class): Mt_tRNA

Quality score for this RNA gene is 3

Aliases
Mitochondrially Encoded TRNA Leucine 2 (CUN)1
MTTL21 2
TRNA Leucine 2 (CUN)1
TRNL22
tRNA2

External Ids:    HGNC: 74911   Entrez Gene: 45682   Ensembl: ENSG000002101917   OMIM: 5900555   

Export aliases for MT-TL2 gene to outside databases

Previous GC identifer: GC00U921606


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MT-TL2 Gene:
MT-TL2 (mitochondrially encoded tRNA leucine 2 (CUN)) is an RNA gene, and is affiliated with the Mt_tRNA class. Diseases associated with MT-TL2 include endomyocardial fibroelastosis, and maternally-inherited progressive external ophthalmoplegia.


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-TL2
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-TL2


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP012268:       (about GC identifiers)

Start:
12,266 bp from pter      End:
12,336 bp from pter
Size:
71 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
MTTRNA: ncRNAs / Transfer RNA, mitochondrial

  --

(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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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  --

(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 MT-TL2 About                                                                                                See pathways by source

SuperPathContained pathways About
1tRNA Aminoacylation
Aminoacyl-tRNA biosynthesis0.52

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for MT-TL2):
    Aminoacyl-tRNA biosynthesis


MT-TL2 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-TL2
Interactions:

    Search GeneGlobe Interaction Network for MT-TL2

(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 Tocris compounds for MT-TL2



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000387456(Mt_tRNA)

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GeneLoc Exon Structure


(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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Expression evidence for MT-TL2:none

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

MT-TL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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)
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  --

ENSEMBL Gene Tree for MT-TL2 (if available)
TreeFam Gene Tree for MT-TL2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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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Human Gene Mutation Database (HGMD): MT-TL2
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-TL2
DNA2.0 Custom Variant and Variant Library Synthesis for MT-TL2

(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.)
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OMIM gene information: 590055    OMIM disorders: --

11 diseases for MT-TL2:    About MalaCards
endomyocardial fibroelastosis    maternally-inherited progressive external ophthalmoplegia    chronic progressive external ophthalmoplegia    ophthalmoplegia
mitochondrial disorders    oral cancer    parkinson's disease    diabetes mellitus
alzheimer's disease    colorectal cancer    breast cancer


MT-TL2 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
GeneTests: MT-TL2
GeneReviews: MT-TL2

Export disorders for MT-TL2 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 MT-TL2 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with MT-TL2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. (PubMed id 22094595)1 MartA-n-JimAcnez R....Campos Y. (Mitochondrion 2012)
  2. Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. (PubMed id 20111055)1 Kato T....Tanaka M. (J. Hum. Genet. 2010)
  3. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. (PubMed id 20064630)1 Nishigaki Y....Tanaka M. (Mitochondrion 2010)
  4. Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. (PubMed id 20538375)1 Lakatos A....Potkin S.G. (Neurobiol. Aging 2010)
  5. [Study on the mitochondrial DNA mutations in familial diabetes mellitus in Chinese population]. (PubMed id 19199242)1 Wang S.J....Xiang K.S. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
  6. Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy. (PubMed id 19920115)1 Alsbeih G.A....Abu-Amero K.K. (Clin. Cancer Res. 2009)
  7. Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk. (PubMed id 19050702)1 Webb E....Houlston R.S. (Br. J. Cancer 2008)
  8. Mitochondrial DNA variant interactions modify breast cancer risk. (PubMed id 18709563)1 Covarrubias D....Leal S.M. (J. Hum. Genet. 2008)
  9. Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. (PubMed id 18603265)1 Cardaioli E....Federico A. (J. Neurol. Sci. 2008)
  10. Increased risk of oral cancer in relation to common Indian mitochondrial polymorphisms and Autosomal GSTP1 locus. (PubMed id 17886251)1 Datta S....Roy B. (Cancer 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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: 4568 HGNC: 7491 Ensembl:ENSG00000210191 euGenes: HUgn4568 ECgene: MT-TL2 Kegg: 4568
H-InvDB: MT-TL2

(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 MT-TL2 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 MT-TL2 gene:
Search GeneIP for patents involving MT-TL2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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