Aliases for MT-TD Gene

Data sources for MT-TD Gene:

RNA type for MT-TD Gene

tRNA

Aliases for MT-TD Gene

External Ids for MT-TD Gene

Previous HGNC Symbols for MT-TD Gene

  • MTTD

Previous GeneCards Identifiers for MT-TD Gene

  • GC00U921598

Summaries for MT-TD Gene

GeneCards Summary for MT-TD Gene

MT-TD (Mitochondrially Encoded TRNA-Asp (GAU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TD include Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes and Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes. 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-TD Gene

Genomics for MT-TD Gene

Genomic Locations for MT-TD Gene

Latest Assembly
chrMT:7,516-7,685
(GRCh38/hg38)
Size:
170 bases
Orientation:
Plus strand

Previous Assembly
chrMT:7,518-7,585
(GRCh37/hg19 by Ensembl)
Size:
68 bases
Orientation:
Plus strand

Genomic View for MT-TD Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TD Gene

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

Proteins for MT-TD Gene

Post-translational modifications for MT-TD Gene

No Post-translational modifications

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

Domains & Families for MT-TD Gene

Gene Families for MT-TD Gene

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

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

Function for MT-TD Gene

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TD Gene

Localization for MT-TD 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-TD 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-TD Gene

Pathways & Interactions for MT-TD Gene

PathCards logo

SuperPathways for MT-TD Gene

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

Pathways by source for MT-TD Gene

1 KEGG pathway for MT-TD Gene

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

None

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

Drugs & Compounds for MT-TD Gene

No Compound Related Data Available

Transcripts for MT-TD Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00001FC4D3_9606 tRNA 68 2

Ensembl: ENST00000387419 (view in UCSC) ,

ENA: View 47952 records in RNAcentral

URS00002EDD4B_9606 tRNA 168 1

ENA: AM263184.1:7517..7684:tRNA, AM263185.1:7516..7683:tRNA,

URS0000050612_9606 tRNA 70 1

ENA: DQ862536.1:7517..7586:tRNA, DQ862537.1:7518..7587:tRNA,

URS00000A45EB_9606 tRNA 70 1

ENA: AP010832.1:7516..7585:tRNA,

URS00004DE567_9606 tRNA 69 1

ENA: AY922265.1:7518..7586:tRNA,

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

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

No ASD Table

Relevant External Links for MT-TD Gene

GeneLoc Exon Structure for
MT-TD

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

Expression for MT-TD Gene

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

mRNA differential expression in normal tissues according to GTEx for MT-TD Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x8.9), Brain - Caudate (basal ganglia) (x7.5), Brain - Substantia nigra (x4.5), Brain - Spinal cord (cervical c-1) (x4.5), and Brain - Nucleus accumbens (basal ganglia) (x4.0).
genes like me logo Genes that share expression patterns with MT-TD: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TD Gene

Orthologs for MT-TD Gene

Evolution for MT-TD Gene

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

No data available for Orthologs for MT-TD Gene

Paralogs for MT-TD Gene

No data available for Paralogs for MT-TD Gene

Variants for MT-TD Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs121434454 Pathogenic: Mitochondrial myopathy, isolated 7,526(+) A/G
m.7526A>G
rs1556423308 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 7,559(+) A/G
NC_012920.1(MT-CYB):m.7559A>G
rs1556423311 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 7,570(+) A/G
NC_012920.1(MT-CYB):m.7570A>G
rs1603220992 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 7,518(+) A/G
NC_012920.1(MT-CYB):m.7518A>G
rs1603220993 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 7,520(+) G/A
NC_012920.1(MT-CYB):m.7520G>A

Additional Variant Information for MT-TD Gene

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

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-TD Gene

Disorders for MT-TD Gene

MalaCards: The human disease database

(6) MalaCards diseases for MT-TD Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MT-TD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MT-TD

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

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

Publications for MT-TD 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. A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. (PMID: 27536005) Wang M … Guan MX (Nucleic acids research 2016) 3
  3. Pathology-related mutation A7526G (A9G) helps in the understanding of the 3D structural core of human mitochondrial tRNA(Asp). (PMID: 19535463) Messmer M … Florentz C (RNA (New York, N.Y.) 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. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 2

Products for MT-TD Gene

Sources for MT-TD Gene