Aliases for MT-TC Gene

Data sources for MT-TC Gene:

RNA type for MT-TC Gene

tRNA

Aliases for MT-TC Gene

External Ids for MT-TC Gene

Previous HGNC Symbols for MT-TC Gene

  • MTTC

Previous GeneCards Identifiers for MT-TC Gene

  • GC00U921597

Summaries for MT-TC Gene

GeneCards Summary for MT-TC Gene

MT-TC (Mitochondrially Encoded TRNA-Cys (UGU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TC include Fasciolopsiasis and Mental Retardation, Autosomal Dominant 30. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TC 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-TC Gene

Genomics for MT-TC Gene

Genomic Locations for MT-TC Gene

Latest Assembly
chrMT:5,746-5,829
(GRCh38/hg38)
Size:
84 bases
Orientation:
Minus strand

Previous Assembly
chrMT:5,761-5,826
(GRCh37/hg19 by Ensembl)
Size:
66 bases
Orientation:
Minus strand

Genomic View for MT-TC Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TC Gene

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

Proteins for MT-TC Gene

Post-translational modifications for MT-TC Gene

No Post-translational modifications

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

Domains & Families for MT-TC Gene

Gene Families for MT-TC Gene

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

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

Function for MT-TC Gene

Human Phenotype Ontology for MT-TC 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-TC Gene

Localization for MT-TC 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-TC 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-TC Gene

Pathways & Interactions for MT-TC Gene

PathCards logo

SuperPathways for MT-TC Gene

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

Pathways by source for MT-TC Gene

1 KEGG pathway for MT-TC Gene

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

None

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

Drugs & Compounds for MT-TC Gene

No Compound Related Data Available

Transcripts for MT-TC Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000018E119_9606 tRNA 66 2

Ensembl: ENST00000387405 (view in UCSC) ,

ENA: View 49643 records in RNAcentral

URS00021C33D3_9606 tRNA 67 1

ENA: LC530713.1:1..69:tRNA,

URS00000166EE_9606 tRNA 66 1

ENA: View 10 records in RNAcentral

URS0000034729_9606 tRNA 66 1

ENA: JQ702194.1:5763..5828:tRNA, KP900750.1:5760..5825:tRNA, KP900751.1:5770..5835:tRNA, KP900752.1:5760..5825:tRNA, MN699942.1:5721..5786:tRNA,

URS000004FD29_9606 tRNA 66 1

ENA: JQ705593.1:5761..5827:tRNA, JQ705996.1:5761..5827:tRNA,

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

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

No ASD Table

Relevant External Links for MT-TC Gene

GeneLoc Exon Structure for
MT-TC

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

Expression for MT-TC 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-TC Gene

Orthologs for MT-TC Gene

Evolution for MT-TC Gene

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

No data available for Orthologs for MT-TC Gene

Paralogs for MT-TC Gene

No data available for Paralogs for MT-TC Gene

Variants for MT-TC Gene

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

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
209212 Likely Pathogenic: Primary dilated cardiomyopathy; Macrocytic dyserythropoietic anemia 5,781(-) CTGCTTCTTCGAATTT
NC_012920.1:m.5782_13922del8141
INITIATIOR_CODON_VARIANT,FRAMESHIFT
209213 Likely Pathogenic: Primary dilated cardiomyopathy; Macrocytic dyserythropoietic anemia 5,793(-) ATTTGCAATTCAATAT
NC_012920.1:m.5794_14876del9083
INITIATIOR_CODON_VARIANT,FRAMESHIFT
rs1556423031 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,772(-) G/A
NC_012920.1(MT-CYB):m.5772G>A
rs1556423033 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,788(-) T/C
NC_012920.1(MT-CYB):m.5788T>C
rs1556423035 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 5,794(-) T/C
NC_012920.1(MT-CYB):m.5794T>C

Additional Variant Information for MT-TC Gene

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

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-TC Gene

Disorders for MT-TC Gene

MalaCards: The human disease database

(8) MalaCards diseases for MT-TC Gene - From: COP and GCD

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

Additional Disease Information for MT-TC

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

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

Publications for MT-TC Gene

  1. Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. (PMID: 26278626) Wang F … Sun F (Scientific reports 2015) 3
  2. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A … Tiwari S (BMC bioinformatics 2009) 3
  3. MELAS (PMID: 20301411) El-Hattab AW … Scaglia F (GeneReviews® 2001) 3
  4. Mitochondrial Disorders Overview (PMID: 20301403) Chinnery PF (GeneReviews® 2000) 3
  5. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 2

Products for MT-TC Gene

Sources for MT-TC Gene