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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 Leigh Syndrome and Mitochondrial Dna-Associated Leigh Syndrome And Narp. Among its related pathways are tRNA Aminoacylation.

Additional gene information for MT-TV Gene

No data available for Entrez Gene Summary , CIViC 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

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for MT-TV
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-TV gene
Compartment Confidence
mitochondrion 2
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MT-TV Gene

Pathways & Interactions for MT-TV Gene

SuperPathways for MT-TV Gene

SuperPathway 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 :

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for MT-TV
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TV Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MT-TV: view

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

Human Gene Mutation Database (HGMD)
MT-TV
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial dna-associated leigh syndrome and narp
  • mtdna-associated leigh syndromenarp
mitochondrial disorders
  • mitochondrial encephalomyopathies
cercarial dermatitis
  • cutaneous schistosomiasis
- 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 (Italian heart journal : official journal of the Italian Federation of Cardiology 2004) 3 45 60
  2. Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity. (PMID: 24691472) Fraidakis MJ … Lombès A (Mitochondrion 2014) 3 60
  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 60
  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 RN (Nucleic acids research 2008) 3 60

Products for MT-TV Gene

Sources for MT-TV Gene

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