Aliases for MT-TL2 Gene

Data sources for MT-TL2 Gene:

RNA type for MT-TL2 Gene

tRNA

Aliases for MT-TL2 Gene

External Ids for MT-TL2 Gene

Previous HGNC Symbols for MT-TL2 Gene

  • MTTL2

Previous GeneCards Identifiers for MT-TL2 Gene

  • GC00U921606

Summaries for MT-TL2 Gene

GeneCards Summary for MT-TL2 Gene

MT-TL2 (Mitochondrially Encoded TRNA-Leu (CUN) 2) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TL2 include Mitochondrial Dna-Related Progressive External Ophthalmoplegia and Mitochondrial Encephalomyopathy. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TL2 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-TL2 Gene

Genomics for MT-TL2 Gene

Genomic Locations for MT-TL2 Gene

Latest Assembly
chrMT:12,265-12,337
(GRCh38/hg38)
Size:
73 bases
Orientation:
Plus strand

Previous Assembly
chrMT:12,266-12,336
(GRCh37/hg19 by Ensembl)
Size:
71 bases
Orientation:
Plus strand

Genomic View for MT-TL2 Gene

Genes around MT-TL2 on UCSC Golden Path with GeneCards custom track
MT-TL2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TL2 Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TL2 Gene

Proteins for MT-TL2 Gene

Post-translational modifications for MT-TL2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TL2 Gene

Domains & Families for MT-TL2 Gene

Gene Families for MT-TL2 Gene

genes like me logo Genes that share domains with MT-TL2: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TL2 Gene

Function for MT-TL2 Gene

Human Phenotype Ontology for MT-TL2 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-TL2 Gene

Localization for MT-TL2 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-TL2 gene
Compartment Confidence
mitochondrion 2
nucleus 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-TL2 Gene

Pathways & Interactions for MT-TL2 Gene

PathCards logo

SuperPathways for MT-TL2 Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TL2: view

Pathways by source for MT-TL2 Gene

1 KEGG pathway for MT-TL2 Gene

Gene Ontology (GO) - Biological Process for MT-TL2 Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TL2 Gene

Drugs & Compounds for MT-TL2 Gene

No Compound Related Data Available

Transcripts for MT-TL2 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TL2 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000056BD99_9606 tRNA 71 2

Ensembl: ENST00000387456 (view in UCSC) ,

ENA: View 45772 records in RNAcentral

URS00015544FB_9606 tRNA 72 1

ENA: MN150713.1:14089..14160:tRNA,

URS00000177BE_9606 tRNA 71 1

ENA: JQ706026.1:12266..12336:tRNA, JQ706032.1:12266..12336:tRNA, JQ706045.1:12266..12336:tRNA,

URS0000023621_9606 tRNA 71 1

ENA: AY922299.1:12268..12338:tRNA,

URS0000044288_9606 tRNA 71 1

ENA: View 7 records in RNAcentral

MT-TL2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TL2 Gene

No ASD Table

Relevant External Links for MT-TL2 Gene

GeneLoc Exon Structure for
MT-TL2

No data available for mRNA/cDNA for MT-TL2 Gene

Expression for MT-TL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TL2 Gene

mRNA differential expression in normal tissues according to GTEx for MT-TL2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x6.5), Brain - Putamen (basal ganglia) (x6.5), and Brain - Substantia nigra (x5.8).
genes like me logo Genes that share expression patterns with MT-TL2: 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-TL2 Gene

Orthologs for MT-TL2 Gene

Evolution for MT-TL2 Gene

ENSEMBL:
Gene Tree for MT-TL2 (if available)
TreeFam:
Gene Tree for MT-TL2 (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TL2

No data available for Orthologs for MT-TL2 Gene

Paralogs for MT-TL2 Gene

No data available for Paralogs for MT-TL2 Gene

Variants for MT-TL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TL2 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
430686 Pathogenic: Mitochondrial diseases 12,113(+) GACATCATTACCGGGT
NC_012920.1:m.12114_14420del2307
638146 Pathogenic: Pearson syndrome 8,479(+) ACCAAAGCCCATAAAA
NC_012920.1:m.8480_13440del
INITIATIOR_CODON_VARIANT,FRAMESHIFT
rs1131692061 Pathogenic: Mitochondrial diseases 12,271(+) T/C
NC_012920.1:m.12271T>C
rs1131692062 Pathogenic: Mitochondrial diseases 12,283(+) G/A
NC_012920.1:m.12283G>A
rs121434462 Pathogenic: Mitochondrial encephalomyopathy; Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 12,315(+) G/A
m.12315G>A

Additional Variant Information for MT-TL2 Gene

Human Gene Mutation Database (HGMD)
MT-TL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TL2
Leiden Open Variation Database (LOVD)
MT-TL2

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-TL2 Gene

Disorders for MT-TL2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for MT-TL2 Gene - From: CVR, ORP, COP, and GCD

Additional Disease Information for MT-TL2

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TL2 Gene

Publications for MT-TL2 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. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA(Leu(CUN)) gene. (PMID: 22094595) Martín-Jiménez R … Campos Y (Mitochondrion 2012) 3
  4. Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. (PMID: 20064630) Nishigaki Y … Tanaka M (Mitochondrion 2010) 3
  5. Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. (PMID: 20111055) Kato T … Tanaka M (Journal of human genetics 2010) 3

Products for MT-TL2 Gene

Sources for MT-TL2 Gene