Aliases for MT-TN Gene

Data sources for MT-TN Gene:

RNA type for MT-TN Gene

tRNA

Aliases for MT-TN Gene

External Ids for MT-TN Gene

Previous HGNC Symbols for MT-TN Gene

  • MTTN

Previous GeneCards Identifiers for MT-TN Gene

  • GC00U921608

Summaries for MT-TN Gene

GeneCards Summary for MT-TN Gene

MT-TN (Mitochondrially Encoded TRNA-Asn (AAU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TN include Chronic Progressive External Ophthalmoplegia and Mitochondrial Dna-Related Progressive External Ophthalmoplegia. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TN 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-TN Gene

Genomics for MT-TN Gene

Genomic Locations for MT-TN Gene

Latest Assembly
chrMT:5,656-5,746
(GRCh38/hg38)
Size:
91 bases
Orientation:
Minus strand

Previous Assembly
chrMT:5,657-5,729
(GRCh37/hg19 by Ensembl)
Size:
73 bases
Orientation:
Minus strand

Genomic View for MT-TN Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TN Gene

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

Proteins for MT-TN Gene

Post-translational modifications for MT-TN Gene

No Post-translational modifications

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

Domains & Families for MT-TN Gene

Gene Families for MT-TN Gene

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

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

Function for MT-TN Gene

Human Phenotype Ontology for MT-TN 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-TN Gene

Localization for MT-TN 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-TN 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-TN Gene

Pathways & Interactions for MT-TN Gene

PathCards logo

SuperPathways for MT-TN Gene

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

Pathways by source for MT-TN Gene

1 KEGG pathway for MT-TN Gene

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

None

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

Drugs & Compounds for MT-TN Gene

No Compound Related Data Available

Transcripts for MT-TN Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00004206E2_9606 tRNA 73 3

Ensembl: ENST00000387400 (view in UCSC) ,

Rfam: RF00005,

ENA: View 45535 records in RNAcentral

URS00000208B4_9606 tRNA 73 1

ENA: S69633.1:1..73:tRNA,

URS000005FBEE_9606 tRNA 73 1

ENA: AP008606.1:5660..5732:tRNA,

URS00000601BA_9606 tRNA 73 1

ENA: DQ246814.1:5658..5730:tRNA,

URS000008BA3B_9606 tRNA 73 1

ENA: View 12 records in RNAcentral

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

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

No ASD Table

Relevant External Links for MT-TN Gene

GeneLoc Exon Structure for
MT-TN

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

Expression for MT-TN Gene

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

genes like me logo Genes that share expression patterns with MT-TN: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TN Gene

Orthologs for MT-TN Gene

Evolution for MT-TN Gene

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

No data available for Orthologs for MT-TN Gene

Paralogs for MT-TN Gene

No data available for Paralogs for MT-TN Gene

Variants for MT-TN Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs1553139251 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,663(-) C/T
NC_012920.1(MT-CYB):m.5663C>T
rs1556423024 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,705(-) A/G
NC_012920.1(MT-CYB):m.5705A>G
rs1569484022 Pathogenic: External ophthalmoplegia 5,667(-) G/A
NC_012920.1:m.5667G>A
rs1603220076 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,661(-) A/G
NC_012920.1(MT-CYB):m.5661A>G
rs1603220078 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,662(-) C/T
NC_012920.1(MT-CYB):m.5662C>T

Additional Variant Information for MT-TN Gene

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

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-TN Gene

Disorders for MT-TN Gene

MalaCards: The human disease database

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

Additional Disease Information for MT-TN

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

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

Publications for MT-TN Gene

  1. 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
  2. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. (PMID: 23696415) Blakely EL … Taylor RW (Human mutation 2013) 72
  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. Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk. (PMID: 19050702) Webb E … Houlston RS (British journal of cancer 2008) 3
  5. A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure. (PMID: 16908752) Meulemans A … De Meirleir L (Archives of neurology 2006) 72

Products for MT-TN Gene

Sources for MT-TN Gene