Aliases for MT-TE Gene

Data sources for MT-TE Gene:

RNA type for MT-TE Gene

tRNA

Aliases for MT-TE Gene

  • Mitochondrially Encoded TRNA-Glu (GAA/G) (HGNC, Ensembl)
  • Mitochondrially Encoded TRNA Glutamic Acid (HGNC)
  • TRNA Glutamic Acid (HGNC)
  • HSALNG0136336 (LncBook)
  • RF00005 (Rfam)

External Ids for MT-TE Gene

Previous HGNC Symbols for MT-TE Gene

  • MTTE

Previous GeneCards Identifiers for MT-TE Gene

  • GC00U921599
  • GCMTM014676

Summaries for MT-TE Gene

GeneCards Summary for MT-TE Gene

MT-TE (Mitochondrially Encoded TRNA-Glu (GAA/G)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TE include Mitochondrial Myopathy, Infantile, Transient and Diabetes And Deafness, Maternally Inherited. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TE 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-TE Gene

Genomics for MT-TE Gene

Genomic Locations for MT-TE Gene

Latest Assembly
chrMT:12,350-14,747
(GRCh38/hg38)
Size:
2,398 bases
Orientation:
Minus strand

Previous Assembly
chrMT:14,674-14,742
(GRCh37/hg19 by Ensembl)
Size:
69 bases
Orientation:
Minus strand

Genomic View for MT-TE Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TE Gene

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

Proteins for MT-TE Gene

Post-translational modifications for MT-TE Gene

No Post-translational modifications

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

Domains & Families for MT-TE Gene

Gene Families for MT-TE Gene

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

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

Function for MT-TE Gene

Human Phenotype Ontology for MT-TE 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-TE Gene

Localization for MT-TE 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-TE 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-TE Gene

Pathways & Interactions for MT-TE Gene

PathCards logo

SuperPathways for MT-TE Gene

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

Pathways by source for MT-TE Gene

1 KEGG pathway for MT-TE Gene

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

None

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

Drugs & Compounds for MT-TE Gene

No Compound Related Data Available

Transcripts for MT-TE Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000034E9D0_9606 tRNA 69 2

Ensembl: ENST00000387459 (view in UCSC) ,

ENA: View 50701 records in RNAcentral

URS0001BDAFEE_9606 tRNA 1190 1

LncBook: HSALNT0279560,

URS0001BD5CEF_9606 tRNA 898 1

LncBook: HSALNT0279567,

URS0001BCB23F_9606 tRNA 879 1

LncBook: HSALNT0279562,

URS0001BEF35B_9606 tRNA 809 1

LncBook: HSALNT0279566,

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

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

No ASD Table

Relevant External Links for MT-TE Gene

GeneLoc Exon Structure for
MT-TE

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

Expression for MT-TE Gene

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

genes like me logo Genes that share expression patterns with MT-TE: 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-TE Gene

Orthologs for MT-TE Gene

Evolution for MT-TE Gene

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

No data available for Orthologs for MT-TE Gene

Paralogs for MT-TE Gene

No data available for Paralogs for MT-TE Gene

Variants for MT-TE Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs1057516070 Benign: Sudden death; Episodic vomiting; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Developmental delay; Mild liver congestion; not provided 14,706(-) A/G
NC_012920.1:m.14706A>G
rs121434453 Pathogenic/Likely Pathogenic: Mitochondrial myopathy; Diabetes-deafness syndrome maternally transmitted; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Mitochondrial diseases; Myopathy, mitochondrial, with diabetes mellitus 14,709(-) T/C
m.14709T>C
rs1556424478 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 14,691(-) C/T
NC_012920.1(MT-CYB):m.14691C>T
rs1556424481 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke. Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 14,696(-) A/CA/G
NC_012920.1(MT-CYB):m.14696A>C
rs1569484669 Uncertain Significance: See cases; not provided 14,701(-) C/T
NC_012920.1(MT-CYB):m.14701C>T

Additional Variant Information for MT-TE Gene

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

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-TE Gene

Disorders for MT-TE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial myopathy, infantile, transient
  • mmit
diabetes and deafness, maternally inherited
  • midd
mitochondrial myopathy with diabetes
  • mitochondrial myopathy, lipid type
gonadal dysgenesis
  • gonadal dysgenesis syndrome
mitochondrial myopathy
  • mitochondrial cytopathy
- elite association - COSMIC cancer census association via MalaCards
Search MT-TE in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MT-TE

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

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

Publications for MT-TE Gene

  1. Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. (PMID: 16414144) Tang DL … Liu F (Diabetes research and clinical practice 2006) 3 40
  2. [Association of mitochondrial DNA variation with type 2 diabetes mellitus]. (PMID: 16331560) Tang DL … Liu SM (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005) 3 40
  3. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. (PMID: 15286228) Uusimaa J … Majamaa K (Pediatrics 2004) 3 40
  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. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. (PMID: 32313153) Riley LG … Christodoulou J (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72

Products for MT-TE Gene

Sources for MT-TE Gene