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Aliases for MT-TK Gene

Subcategory (RNA class) for MT-TK Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for MT-TK Gene

  • Mitochondrially Encoded TRNA Lysine 2
  • TRNA Lysine 2
  • MTTK 3
  • TRNA 3
  • TRNK 3

External Ids for MT-TK Gene

Previous HGNC Symbols for MT-TK Gene

  • MERRF
  • MTTK

Previous GeneCards Identifiers for MT-TK Gene

  • GC00U921604

Summaries for MT-TK Gene

GeneCards Summary for MT-TK Gene

MT-TK (Mitochondrially Encoded TRNA Lysine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TK include melas, mt-tk-related and maternally-inherited cardiomyopathy and hearing loss. Among its related pathways are tRNA Aminoacylation.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-TK Gene

Genomics for MT-TK Gene

Genomic Location for MT-TK Gene

Chromosome:
MT
Start:
8,295 bp from pter
End:
8,364 bp from pter
Size:
70 bases
Orientation:
Plus strand

Genomic View for MT-TK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TK Gene

No data available for Regulatory Elements for MT-TK Gene

Proteins for MT-TK Gene

Post-translational modifications for MT-TK Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TK Gene

Domains & Families for MT-TK Gene

Gene Families for MT-TK Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MT-TK: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MT-TK Gene

Function for MT-TK Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TK Gene

Localization for MT-TK Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-TK Gene COMPARTMENTS Subcellular localization image for MT-TK gene
Compartment Confidence
chloroplast 3
mitochondrion 3
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MT-TK Gene

Pathways & Interactions for MT-TK Gene

SuperPathways for MT-TK Gene

Superpath Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TK: view

Pathways by source for MT-TK Gene

1 KEGG pathway for MT-TK Gene

Interacting Proteins for MT-TK Gene

Gene Ontology (GO) - Biological Process for MT-TK Gene

None

No data available for SIGNOR curated interactions for MT-TK Gene

Drugs & Compounds for MT-TK Gene

No Compound Related Data Available

Transcripts for MT-TK Gene

mRNA/cDNA for MT-TK Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TK Gene

No ASD Table

Relevant External Links for MT-TK Gene

GeneLoc Exon Structure for
MT-TK
ECgene alternative splicing isoforms for
MT-TK

Expression for MT-TK Gene

mRNA expression in normal human tissues for MT-TK Gene

genes like me logo Genes that share expression patterns with MT-TK: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MT-TK Gene

Orthologs for MT-TK Gene

Evolution for MT-TK Gene

ENSEMBL:
Gene Tree for MT-TK (if available)
TreeFam:
Gene Tree for MT-TK (if available)

No data available for Orthologs for MT-TK Gene

Paralogs for MT-TK Gene

No data available for Paralogs for MT-TK Gene

Variants for MT-TK Gene

Relevant External Links for MT-TK Gene

HapMap Linkage Disequilibrium report
MT-TK
Human Gene Mutation Database (HGMD)
MT-TK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-TK Gene

Disorders for MT-TK Gene

MalaCards: The human disease database

(30) MalaCards diseases for MT-TK Gene - From: ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
melas, mt-tk-related
  • melas, mttk-related
maternally-inherited cardiomyopathy and hearing loss
  • maternally-inherited cardiomyopathy and deafness
merrf syndrome
  • myoclonus epilepsy and ragged red fibers
merrf/melas overlap syndrome
mitochondrial dna depletion syndrome 1
  • thymidine phosphorylase deficiency
- elite association
Search MT-TK in MalaCards View complete list of genes associated with diseases

Relevant External Links for MT-TK

Genetic Association Database (GAD)
MT-TK
genes like me logo Genes that share disorders with MT-TK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TK Gene

Publications for MT-TK Gene

  1. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. (PMID: 2112427) Shoffner J.M. … Wallace D.C. (Cell 1990) 2 67
  2. A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers. (PMID: 2124116) Yoneda M. … Tsuji S. (Biochem. Int. 1990) 2 67
  3. Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis. (PMID: 22681518) Kazakos K. … Polychronakos C. (Ann. Hum. Genet. 2012) 67
  4. The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. (PMID: 22743145) Gamba J. … Tengan C.H. (J. Neurol. Sci. 2012) 67
  5. Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism. (PMID: 22227389) Vendeix F.A. … Agris P.F. (J. Mol. Biol. 2012) 67

Products for MT-TK Gene

Sources for MT-TK Gene

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