Aliases for MT-TW Gene

Data sources for MT-TW Gene:

RNA type for MT-TW Gene

tRNA

Aliases for MT-TW Gene

External Ids for MT-TW Gene

Previous HGNC Symbols for MT-TW Gene

  • MTTW

Previous GeneCards Identifiers for MT-TW Gene

  • GC00U921616

Summaries for MT-TW Gene

GeneCards Summary for MT-TW Gene

MT-TW (Mitochondrially Encoded TRNA-Trp (UGA/G)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TW include Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes and Leigh Syndrome. Among its related pathways are tRNA Aminoacylation.

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

Genomics for MT-TW Gene

Genomic Locations for MT-TW Gene

Latest Assembly
chrMT:5,511-5,580
(GRCh38/hg38)
Size:
70 bases
Orientation:
Plus strand

Previous Assembly
chrMT:5,512-5,579
(GRCh37/hg19 by Ensembl)
Size:
68 bases
Orientation:
Plus strand

Genomic View for MT-TW Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TW Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TW Gene

Proteins for MT-TW Gene

Post-translational modifications for MT-TW Gene

No Post-translational modifications

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

Domains & Families for MT-TW Gene

Gene Families for MT-TW Gene

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TW Gene

Function for MT-TW Gene

Human Phenotype Ontology for MT-TW 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-TW Gene

Localization for MT-TW 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-TW 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-TW Gene

Pathways & Interactions for MT-TW Gene

PathCards logo

SuperPathways for MT-TW Gene

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

Pathways by source for MT-TW Gene

1 KEGG pathway for MT-TW Gene

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

None

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

Drugs & Compounds for MT-TW Gene

No Compound Related Data Available

Transcripts for MT-TW Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000012396D_9606 tRNA 68 2

Ensembl: ENST00000387382 (view in UCSC) ,

ENA: View 22062 records in RNAcentral

URS00021DB18E_9606 tRNA 71 1

ENA: LC530725.1:1..71:tRNA,

URS00002C899E_9606 tRNA 69 1

ENA: DQ862536.1:5513..5581:tRNA, DQ862537.1:5514..5582:tRNA,

URS000002491F_9606 tRNA 68 1

ENA: View 15 records in RNAcentral

URS00000428DF_9606 tRNA 68 1

ENA: View 163 records in RNAcentral

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

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

No ASD Table

Relevant External Links for MT-TW Gene

GeneLoc Exon Structure for
MT-TW

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

Expression for MT-TW Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TW Gene

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • meninges
  • neck
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
  • stomach
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MT-TW: view

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for MT-TW Gene

Orthologs for MT-TW Gene

Evolution for MT-TW Gene

ENSEMBL:
Gene Tree for MT-TW (if available)
TreeFam:
Gene Tree for MT-TW (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TW

No data available for Orthologs for MT-TW Gene

Paralogs for MT-TW Gene

No data available for Paralogs for MT-TW Gene

Variants for MT-TW Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs1556423004 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,528(+) T/C
NC_012920.1(MT-CYB):m.5528T>C
rs1556423008 Uncertain Significance: Leigh syndrome; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,559(+) A/G
NC_012920.1:m.5559A>G
rs1556423009 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not provided 5,561(+) T/C
NC_012920.1:m.5561T>C
rs1603219997 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,514(+) A/G
NC_012920.1(MT-CYB):m.5514A>G
rs1603220000 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,515(+) A/G
NC_012920.1(MT-CYB):m.5515A>G

Additional Variant Information for MT-TW Gene

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

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-TW Gene

Disorders for MT-TW Gene

MalaCards: The human disease database

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

Additional Disease Information for MT-TW

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TW: view

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

Publications for MT-TW Gene

  1. Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. (PMID: 19349200) Mkaouar-Rebai E … Fakhfakh F (Molecular genetics and metabolism 2009) 3 72
  2. 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
  3. Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene. (PMID: 29625105) Cardaioli E … Dotti MT (Biochemical and biophysical research communications 2018) 3
  4. Mitochondrial DNA mutation m.5512A > G in the acceptor-stem of mitochondrial tRNATrp causing maternally inherited essential hypertension. (PMID: 27687549) Guo L … Bi R (Biochemical and biophysical research communications 2016) 3
  5. A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome. (PMID: 26524491) Duff RM … Filipovska A (Mitochondrion 2015) 3

Products for MT-TW Gene

Sources for MT-TW Gene