Aliases for MT-TM Gene

Data sources for MT-TM Gene:

RNA type for MT-TM Gene

tRNA

Aliases for MT-TM Gene

External Ids for MT-TM Gene

Previous HGNC Symbols for MT-TM Gene

  • MTTM

Previous GeneCards Identifiers for MT-TM Gene

  • GC00U921607

Summaries for MT-TM Gene

GeneCards Summary for MT-TM Gene

MT-TM (Mitochondrially Encoded TRNA-Met (AUA/G)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TM include Mitochondrial Myopathy and Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy. 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-TM Gene

Genomics for MT-TM Gene

Genomic Locations for MT-TM Gene

Latest Assembly
chrMT:4,400-4,470
(GRCh38/hg38)
Size:
71 bases
Orientation:
Plus strand

Previous Assembly
chrMT:4,402-4,469
(GRCh37/hg19 by Ensembl)
Size:
68 bases
Orientation:
Plus strand

Genomic View for MT-TM Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TM Gene

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

Proteins for MT-TM Gene

Post-translational modifications for MT-TM Gene

No Post-translational modifications

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

Domains & Families for MT-TM Gene

Gene Families for MT-TM Gene

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

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

Function for MT-TM 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-TM Gene

Localization for MT-TM 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-TM gene
Compartment Confidence
mitochondrion 3
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-TM Gene

Pathways & Interactions for MT-TM Gene

PathCards logo

SuperPathways for MT-TM Gene

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

Pathways by source for MT-TM Gene

1 KEGG pathway for MT-TM Gene

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

None

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

Drugs & Compounds for MT-TM Gene

No Compound Related Data Available

Transcripts for MT-TM Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000006E464_9606 tRNA 68 2

Ensembl: ENST00000387377 (view in UCSC) ,

ENA: View 52741 records in RNAcentral

URS0000D77905_9606 tRNA 68 2

PDBe: 6GAW_AV, 6GAZ_AV, 6GB2_AV, 6YDP_AV, 6YDW_AV,

ENA: LC530718.1:1..71:tRNA,

URS00002D6C4C_9606 tRNA 70 1

ENA: AP012370.1:4401..4470:tRNA, AP012382.1:4401..4470:tRNA, AP012391.1:4401..4470:tRNA,

URS000004104A_9606 tRNA 68 1

ENA: KC993968.1:4400..4467:tRNA,

URS000004CD95_9606 tRNA 68 1

ENA: JQ704758.1:4403..4470:tRNA,

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

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

No ASD Table

Relevant External Links for MT-TM Gene

GeneLoc Exon Structure for
MT-TM

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

Expression for MT-TM Gene

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

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

This gene is overexpressed in Heart - Left Ventricle (x8.0), Brain - Putamen (basal ganglia) (x5.1), and Brain - Caudate (basal ganglia) (x4.3).
genes like me logo Genes that share expression patterns with MT-TM: 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-TM Gene

Orthologs for MT-TM Gene

Evolution for MT-TM Gene

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

No data available for Orthologs for MT-TM Gene

Paralogs for MT-TM Gene

No data available for Paralogs for MT-TM Gene

Variants for MT-TM Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs11510098 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke. Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 4,454(+) T/AT/C
NC_012920.1(MT-CYB):m.4454T>A
rs118203884 Pathogenic: Mitochondrial myopathy 4,409(+) T/C
m.4409T>C
rs1556422856 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 4,418(+) T/C
NC_012920.1(MT-CYB):m.4418T>C
rs1603219452 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 4,417(+) A/G
NC_012920.1(MT-CYB):m.4417A>G
rs1603219456 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 4,429(+) G/A
NC_012920.1(MT-CYB):m.4429G>A

Additional Variant Information for MT-TM Gene

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

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-TM Gene

Disorders for MT-TM Gene

MalaCards: The human disease database

(15) MalaCards diseases for MT-TM Gene - From: CVR, COP, and GCD

Additional Disease Information for MT-TM

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

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

Publications for MT-TM 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 novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes. (PMID: 31022467) Lim AZ … Taylor RW (Mitochondrion 2019) 3
  3. A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function. (PMID: 29222331) Zhou M … Guan MX (The Journal of biological chemistry 2018) 3
  4. Molecular characterization of mitochondrial transferRNAGln and transferRNAMet A4401G mutations in a Chinese family with hypertension. (PMID: 28259969) Yu SS … He ZF (Molecular medicine reports 2017) 3
  5. The mitochondrial tRNA(Met) 4454T > C variant may not be associated with essential hypertension in Han Chinese population. (PMID: 23627313) Wang Y … Shang X (Mitochondrial DNA 2014) 3

Products for MT-TM Gene

Sources for MT-TM Gene