Aliases for MT-TF Gene

Data sources for MT-TF Gene:

RNA type for MT-TF Gene

tRNA

Aliases for MT-TF Gene

External Ids for MT-TF Gene

Previous HGNC Symbols for MT-TF Gene

  • MTTF

Previous GeneCards Identifiers for MT-TF Gene

  • GC00U921600
  • GCMTP000580

Summaries for MT-TF Gene

GeneCards Summary for MT-TF Gene

MT-TF (Mitochondrially Encoded TRNA-Phe (UUU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TF include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Interstitial Nephritis. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TF 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-TF Gene

Genomics for MT-TF Gene

Genomic Locations for MT-TF Gene

Latest Assembly
chrMT:2-685
(GRCh38/hg38)
Size:
684 bases
Orientation:
Plus strand

Previous Assembly
chrMT:577-647
(GRCh37/hg19 by Ensembl)
Size:
71 bases
Orientation:
Plus strand

Genomic View for MT-TF Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TF Gene

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

Proteins for MT-TF Gene

Post-translational modifications for MT-TF Gene

No Post-translational modifications

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

Domains & Families for MT-TF Gene

Gene Families for MT-TF Gene

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

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

Function for MT-TF Gene

Human Phenotype Ontology for MT-TF 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-TF Gene

Localization for MT-TF 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-TF gene
Compartment Confidence
mitochondrion 2
nucleus 2
cytosol 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-TF Gene

Pathways & Interactions for MT-TF Gene

PathCards logo

SuperPathways for MT-TF Gene

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

Pathways by source for MT-TF Gene

1 KEGG pathway for MT-TF Gene

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

None

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

Drugs & Compounds for MT-TF Gene

No Compound Related Data Available

Transcripts for MT-TF Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00003E8921_9606 tRNA 71 2

Ensembl: ENST00000387314 (view in UCSC) ,

ENA: View 55353 records in RNAcentral

URS0001BE7EF2_9606 tRNA 684 1

LncBook: HSALNT0279503,

URS00003177B8_9606 tRNA 78 1

ENA: V00710.1:570..647:tRNA,

URS00000A8253_9606 tRNA 72 1

ENA: V00660.1:287..358:tRNA,

URS000001924B_9606 tRNA 71 1

ENA: AP008715.1:579..649:tRNA, KJ154351.1:575..645:tRNA, MH120806.1:578..648:tRNA,

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

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

No ASD Table

Relevant External Links for MT-TF Gene

GeneLoc Exon Structure for
MT-TF

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

Expression for MT-TF Gene

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

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

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

Orthologs for MT-TF Gene

Evolution for MT-TF Gene

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

No data available for Orthologs for MT-TF Gene

Paralogs for MT-TF Gene

No data available for Paralogs for MT-TF Gene

Variants for MT-TF Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
870573 Pathogenic: Mitochondrial diseases 590(+) A/G
NC_012920.1(MT-CYB):m.590A>G
rs118203885 Pathogenic: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 583(+) G/A
m.583G>A
rs118203886 Pathogenic: MERRF syndrome 611(+) G/A
m.611G>A
rs118203887 Pathogenic: Myopathy, mitochondrial, late-onset 622(+) G/A
m.622G>A
rs1556422474 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 596(+) T/C
NC_012920.1(MT-CYB):m.596T>C

Additional Variant Information for MT-TF Gene

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

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-TF Gene

Disorders for MT-TF Gene

MalaCards: The human disease database

(22) MalaCards diseases for MT-TF Gene - From: CVR, GTR, ORP, COP, and GCD

Additional Disease Information for MT-TF

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

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

Publications for MT-TF Gene

  1. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. (PMID: 20142618) Zsurka G … Kunz WS (Neurology 2010) 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. A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. (PMID: 31009750) Itkis Y … Zakharova EY (Mitochondrion 2019) 3
  4. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. (PMID: 26061759) Charif M … Hamel CP (American journal of medical genetics. Part A 2015) 3
  5. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. (PMID: 21882289) Yarham JW … McFarland R (Human mutation 2011) 72

Products for MT-TF Gene

Sources for MT-TF Gene