Aliases for MT-TY Gene

Data sources for MT-TY Gene:

RNA type for MT-TY Gene

tRNA

Aliases for MT-TY Gene

External Ids for MT-TY Gene

Previous HGNC Symbols for MT-TY Gene

  • MTTY

Previous GeneCards Identifiers for MT-TY Gene

  • GC00U921617

Summaries for MT-TY Gene

GeneCards Summary for MT-TY Gene

MT-TY (Mitochondrially Encoded TRNA-Tyr (UAU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TY include Kearns-Sayre Syndrome and Intestinal Impaction. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TY 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-TY Gene

Genomics for MT-TY Gene

Genomic Locations for MT-TY Gene

Latest Assembly
chrMT:5,825-5,894
(GRCh38/hg38)
Size:
70 bases
Orientation:
Minus strand

Previous Assembly
chrMT:5,826-5,891
(GRCh37/hg19 by Ensembl)
Size:
66 bases
Orientation:
Minus strand

Genomic View for MT-TY Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TY Gene

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

Proteins for MT-TY Gene

Post-translational modifications for MT-TY Gene

No Post-translational modifications

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

Domains & Families for MT-TY Gene

Gene Families for MT-TY Gene

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

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

Function for MT-TY 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-TY Gene

Localization for MT-TY 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-TY 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-TY Gene

Pathways & Interactions for MT-TY Gene

PathCards logo

SuperPathways for MT-TY Gene

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

Pathways by source for MT-TY Gene

1 KEGG pathway for MT-TY Gene

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

None

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

Drugs & Compounds for MT-TY Gene

No Compound Related Data Available

Transcripts for MT-TY Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00000F3F5E_9606 tRNA 66 3

Ensembl: ENST00000387409 (view in UCSC) ,

Rfam: RF00005,

ENA: View 51015 records in RNAcentral

URS0000013E6C_9606 tRNA 69 1

ENA: AP010825.1:5830..5898:tRNA,

URS00002BF426_9606 tRNA 67 1

ENA: AP012423.1:5825..5891:tRNA,

URS0000093479_9606 tRNA 66 1

ENA: View 467 records in RNAcentral

URS00000F6EA2_9606 tRNA 66 1

ENA: View 10 records in RNAcentral

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

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

No ASD Table

Relevant External Links for MT-TY Gene

GeneLoc Exon Structure for
MT-TY

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

Expression for MT-TY Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , 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-TY Gene

Orthologs for MT-TY Gene

Evolution for MT-TY Gene

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

No data available for Orthologs for MT-TY Gene

Paralogs for MT-TY Gene

No data available for Paralogs for MT-TY Gene

Variants for MT-TY Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
rs118203891 Pathogenic: Exercise intolerance and complex III deficiency, somatic; not provided 5,874(-) T/C
m.5874T>C
rs118203892 Pathogenic: Kearns Sayre syndrome 5,884(-) AT/A
m.5888delT
rs118203893 Pathogenic: Kearns Sayre syndrome 5,877(-) C/T
m.5877C>T
rs118203894 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; Focal segmental glomerulosclerosis and dilated cardiomyopathy 5,843(-) A/G
m.5843A>G
rs1603220147 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,837(-) G/A
NC_012920.1(MT-CYB):m.5837G>A

Additional Variant Information for MT-TY Gene

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

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-TY Gene

Disorders for MT-TY Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
kearns-sayre syndrome
  • kss
intestinal impaction
gnathomiasis
  • gnathostomiasis
coenurosis
  • coenuriasis
neurodermatitis
- elite association - COSMIC cancer census association via MalaCards
Search MT-TY in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MT-TY

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

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

Publications for MT-TY Gene

  1. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A … Tiwari S (BMC bioinformatics 2009) 3
  2. CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. (PMID: 11756614) Raffelsberger T … Bittner RE (Neurology 2001) 72
  3. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 2

Products for MT-TY Gene

Sources for MT-TY Gene