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Aliases for MT-TV Gene

Subcategory (RNA class) for MT-TV Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for MT-TV Gene

  • Mitochondrially Encoded TRNA Valine 2 5
  • TRNA Valine 2
  • TRNA 3
  • TRNV 3
  • MTTV 3

External Ids for MT-TV Gene

Previous HGNC Symbols for MT-TV Gene

  • MTTV

Previous GeneCards Identifiers for MT-TV Gene

  • GC00U921615

Summaries for MT-TV Gene

GeneCards Summary for MT-TV Gene

MT-TV (Mitochondrially Encoded TRNA Valine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TV include mitochondrial dna-associated leigh syndrome and leigh syndrome. 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-TV Gene

Genomics for MT-TV Gene

Genomic Location for MT-TV Gene

Chromosome:
MT
Start:
1,602 bp from pter
End:
1,670 bp from pter
Size:
69 bases
Orientation:
Plus strand

Genomic View for MT-TV Gene

Genes around MT-TV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TV Gene

No data available for Regulatory Elements for MT-TV Gene

Proteins for MT-TV Gene

Post-translational modifications for MT-TV Gene

No Post-translational modifications

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

Domains & Families for MT-TV Gene

Gene Families for MT-TV Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for MT-TV Gene

Human Phenotype Ontology for MT-TV Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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-TV Gene

Localization for MT-TV Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-TV Gene COMPARTMENTS Subcellular localization image for MT-TV gene
Compartment Confidence
chloroplast 3
mitochondrion 2
nucleus 1

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

Pathways & Interactions for MT-TV Gene

SuperPathways for MT-TV Gene

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

Pathways by source for MT-TV Gene

1 KEGG pathway for MT-TV Gene

Interacting Proteins for MT-TV Gene

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

None

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

Drugs & Compounds for MT-TV Gene

No Compound Related Data Available

Transcripts for MT-TV Gene

mRNA/cDNA for MT-TV Gene

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

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

No ASD Table

Relevant External Links for MT-TV Gene

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

Expression for MT-TV Gene

mRNA expression in normal human tissues for MT-TV Gene

mRNA differential expression in normal tissues according to GTEx for MT-TV Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.1), Brain - Caudate (basal ganglia) (x6.1), Brain - Amygdala (x5.8), Brain - Substantia nigra (x5.2), Brain - Nucleus accumbens (basal ganglia) (x4.9), and Brain - Anterior cingulate cortex (BA24) (x4.5).
genes like me logo Genes that share expression patterns with MT-TV: view

In Situ Assay Products

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

Orthologs for MT-TV Gene

Evolution for MT-TV Gene

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

No data available for Orthologs for MT-TV Gene

Paralogs for MT-TV Gene

No data available for Paralogs for MT-TV Gene

Variants for MT-TV Gene

Relevant External Links for MT-TV Gene

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

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-TV Gene

Disorders for MT-TV Gene

MalaCards: The human disease database

(3) MalaCards diseases for MT-TV Gene - From: ClinVar, GeneTests, and Orphanet

Disorder Aliases PubMed IDs
mitochondrial dna-associated leigh syndrome
  • leigh disease, maternally inherited
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
tubulointerstitial nephritis and uveitis
  • tinu
- elite association - COSMIC cancer census association via MalaCards
Search MT-TV in MalaCards View complete list of genes associated with diseases

Relevant External Links for MT-TV

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

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

Publications for MT-TV Gene

  1. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. (PMID: 15320572) Menotti F. … Arbustini E. (Ital Heart J 2004) 3 48 67
  2. Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity. (PMID: 24691472) Fraidakis M.J. … LombA"s A. (Mitochondrion 2014) 3
  3. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A. … Tiwari S. (BMC Bioinformatics 2009) 3
  4. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. (PMID: 18400783) Rorbach J. … Lightowlers R.N. (Nucleic Acids Res. 2008) 3
  5. Mitochondrial Disorders Overview (PMID: 20301403) Pagon R.A. … Stephens K. ( 1993) 3

Products for MT-TV Gene

Sources for MT-TV Gene

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