Aliases for MT-TS2 Gene

Data sources for MT-TS2 Gene:

RNA type for MT-TS2 Gene

tRNA

Aliases for MT-TS2 Gene

External Ids for MT-TS2 Gene

Previous HGNC Symbols for MT-TS2 Gene

  • MTTS2

Previous GeneCards Identifiers for MT-TS2 Gene

  • GC00U921613
  • GCMTP012209

Summaries for MT-TS2 Gene

GeneCards Summary for MT-TS2 Gene

MT-TS2 (Mitochondrially Encoded TRNA-Ser (AGU/C) 2) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TS2 include Retinitis Pigmentosa-Deafness Syndrome and Usher Syndrome, Type Iiia. 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-TS2 Gene

Genomics for MT-TS2 Gene

Genomic Locations for MT-TS2 Gene

Latest Assembly
chrMT:12,206-12,266
(GRCh38/hg38)
Size:
61 bases
Orientation:
Plus strand

Previous Assembly
chrMT:12,207-12,265
(GRCh37/hg19 by Ensembl)
Size:
59 bases
Orientation:
Plus strand

Genomic View for MT-TS2 Gene

Genes around MT-TS2 on UCSC Golden Path with GeneCards custom track
MT-TS2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TS2 Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TS2 Gene

Proteins for MT-TS2 Gene

Post-translational modifications for MT-TS2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TS2 Gene

Domains & Families for MT-TS2 Gene

Gene Families for MT-TS2 Gene

genes like me logo Genes that share domains with MT-TS2: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TS2 Gene

Function for MT-TS2 Gene

Human Phenotype Ontology for MT-TS2 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-TS2 Gene

Localization for MT-TS2 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-TS2 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-TS2 Gene

Pathways & Interactions for MT-TS2 Gene

PathCards logo

SuperPathways for MT-TS2 Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TS2: view

Pathways by source for MT-TS2 Gene

1 KEGG pathway for MT-TS2 Gene

Gene Ontology (GO) - Biological Process for MT-TS2 Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TS2 Gene

Drugs & Compounds for MT-TS2 Gene

No Compound Related Data Available

Transcripts for MT-TS2 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TS2 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00002C130C_9606 tRNA 59 2

Ensembl: ENST00000387449 (view in UCSC) ,

ENA: View 49640 records in RNAcentral

URS0000027F06_9606 tRNA 59 1

ENA: View 11 records in RNAcentral

URS000003F315_9606 tRNA 59 1

ENA: FJ951527.1:12208..12266:tRNA,

URS0000050C0F_9606 tRNA 59 1

ENA: JF824843.2:12207..12265:tRNA,

URS00000F0A16_9606 tRNA 59 1

ENA: View 121 records in RNAcentral

MT-TS2 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TS2 Gene

No ASD Table

Relevant External Links for MT-TS2 Gene

GeneLoc Exon Structure for
MT-TS2

No data available for mRNA/cDNA for MT-TS2 Gene

Expression for MT-TS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-TS2 Gene

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • pancreas
  • stomach
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MT-TS2: 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 and Evidence on tissue expression from TISSUES for MT-TS2 Gene

Orthologs for MT-TS2 Gene

Evolution for MT-TS2 Gene

ENSEMBL:
Gene Tree for MT-TS2 (if available)
TreeFam:
Gene Tree for MT-TS2 (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TS2

No data available for Orthologs for MT-TS2 Gene

Paralogs for MT-TS2 Gene

No data available for Paralogs for MT-TS2 Gene

Variants for MT-TS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TS2 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
rs118203888 Pathogenic: Retinitis pigmentosa-deafness syndrome; Cerebellar ataxia, cataract, and diabetes mellitus. Likely Pathogenic: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 12,258(+) C/AC/T
m.12258C>A
rs118203889 Pathogenic: MERRF/MELAS overlap syndrome 12,207(+) G/A
m.12207G>A
rs1556424082 Conflicting Interpretations: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not provided 12,217(+) A/G
NC_012920.1(MT-CYB):m.12217A>G
rs1556424083 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 12,235(+) T/C
NC_012920.1(MT-CYB):m.12235T>C

Additional Variant Information for MT-TS2 Gene

Human Gene Mutation Database (HGMD)
MT-TS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TS2
Leiden Open Variation Database (LOVD)
MT-TS2

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-TS2 Gene

Disorders for MT-TS2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MT-TS2 Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MT-TS2

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TS2 Gene

Publications for MT-TS2 Gene

  1. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. (PMID: 12045211) Poulton J … Wareham NJ (Human molecular genetics 2002) 3 40
  2. 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
  3. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. (PMID: 22378285) Tuppen HA … McFarland R (European journal of human genetics : EJHG 2012) 3
  4. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A … Tiwari S (BMC bioinformatics 2009) 3
  5. A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency. (PMID: 16950817) Wong LJ … Kerr DS (Journal of medical genetics 2006) 72

Products for MT-TS2 Gene

Sources for MT-TS2 Gene