Aliases for MT-TV Gene

Data sources for MT-TV Gene:

RNA type for MT-TV Gene

tRNA

Aliases for MT-TV Gene

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-Val (GUN)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TV include Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 and Leigh Syndrome. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TV Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary and piRNA Summary for MT-TV Gene

Genomics for MT-TV Gene

Genomic Locations for MT-TV Gene

Latest Assembly
chrMT:1,601-1,671
(GRCh38/hg38)
Size:
71 bases
Orientation:
Plus strand

Previous Assembly
chrMT:1,602-1,670
(GRCh37/hg19 by Ensembl)
Size:
69 bases
Orientation:
Plus strand

Genomic View for MT-TV Gene

Genes around MT-TV on UCSC Golden Path with GeneCards custom track
MT-TV in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TV Gene

No data available for GeneHancer (GH) 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

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

CRISPR products for research

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 2

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

PathCards logo

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

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

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TV Gene

Drugs & Compounds for MT-TV Gene

No Compound Related Data Available

Transcripts for MT-TV Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TV Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00002D2D8F_9606 tRNA 69 3

Ensembl: ENST00000387342 (view in UCSC) ,

PDBe: 5OOL_B, 5OOM_B, 6I9R_B,

ENA: View 52464 records in RNAcentral

URS000080E36F_9606 tRNA 70 1

PDBe: 3J7Y_B, 3J9M_B,

URS000000A699_9606 tRNA 69 1

ENA: KC993961.1:1601..1669:tRNA, MN687313.1:1603..1671:tRNA,

URS0000059DA7_9606 tRNA 69 1

ENA: View 66 records in RNAcentral

URS00000DB78D_9606 tRNA 69 1

ENA: KF631318.1:1604..1672:tRNA, KF631319.1:1604..1672:tRNA,

MT-TV in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

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

No data available for mRNA/cDNA for MT-TV Gene

Expression for MT-TV Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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
Regions:
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)
Alliance of Genome Resources:
Additional Orthologs for MT-TV

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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TV Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
930365 Uncertain Significance: See cases 1,657(+) C/CTT
NC_012920.1(MT-ND1):m.1658_1659dup
rs1057516055 Conflicting Interpretations: Muscular hypotonia of the trunk; Epilepsy; Developmental delay; Hyperlactaemia; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1 1,661(+) A/G
NC_012920.1:m.1661A>G
rs1057516056 Uncertain Significance: Muscular hypotonia of the trunk; Epilepsy; Developmental delay; Hyperlactaemia 1,655(+) A/G
NC_012920.1:m.1655A>G
rs1569483811 Conflicting Interpretations: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not provided 1,619(+) C/T
NC_012920.1(MT-CYB):m.1619C>T
rs1603218581 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 1,607(+) T/C
NC_012920.1(MT-CYB):m.1607T>C

Additional Variant Information for MT-TV Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , 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

(21) MalaCards diseases for MT-TV Gene - From: CVR, ORP, COP, and GCD

Additional Disease Information for MT-TV

Open Targets Platform
Open Targets Platform
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 40 72
  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 72
  3. 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 72
  4. Interpretation of mitochondrial tRNA variants. (PMID: 31965079) Wong LC … Craigen WJ (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72
  5. A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family. (PMID: 32715519) Fay A … Ptáček LJ (Annals of neurology 2020) 72

Products for MT-TV Gene

Sources for MT-TV Gene