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Aliases for MT-TH Gene

Subcategory (RNA class) for MT-TH Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for MT-TH Gene

  • Mitochondrially Encoded TRNA Histidine 2 5
  • TRNA Histidine 2
  • TRNA 3
  • TRNH 3
  • MTTH 3

External Ids for MT-TH Gene

Previous HGNC Symbols for MT-TH Gene

  • MTTH

Previous GeneCards Identifiers for MT-TH Gene

  • GC00U921602

Summaries for MT-TH Gene

GeneCards Summary for MT-TH Gene

MT-TH (Mitochondrially Encoded TRNA Histidine) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-TH include Mitochondrial Non-Syndromic Sensorineural Deafness and Myoclonic Epilepsy Associated With Ragged-Red Fibers. Among its related pathways are tRNA Aminoacylation.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-TH Gene

Genomics for MT-TH Gene

Genomic Location for MT-TH Gene

Chromosome:
MT
Start:
12,138 bp from pter
End:
12,206 bp from pter
Size:
69 bases
Orientation:
Plus strand

Genomic View for MT-TH Gene

Genes around MT-TH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TH Gene

No data available for Regulatory Elements for MT-TH Gene

Proteins for MT-TH Gene

Post-translational modifications for MT-TH Gene

No Post-translational modifications

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

Domains & Families for MT-TH Gene

Gene Families for MT-TH Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MT-TH Gene

Function for MT-TH Gene

Human Phenotype Ontology for MT-TH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-TH Gene

Localization for MT-TH 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-TH gene
Compartment Confidence
mitochondrion 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MT-TH Gene

Pathways & Interactions for MT-TH Gene

SuperPathways for MT-TH Gene

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

Pathways by source for MT-TH Gene

1 KEGG pathway for MT-TH Gene

Interacting Proteins for MT-TH Gene

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

None

No data available for SIGNOR curated interactions for MT-TH Gene

Transcripts for MT-TH Gene

mRNA/cDNA for MT-TH Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No ASD Table

Relevant External Links for MT-TH Gene

GeneLoc Exon Structure for
MT-TH
ECgene alternative splicing isoforms for
MT-TH

Expression for MT-TH Gene

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

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
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-TH: 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-TH Gene

Orthologs for MT-TH Gene

Evolution for MT-TH Gene

ENSEMBL:
Gene Tree for MT-TH (if available)
TreeFam:
Gene Tree for MT-TH (if available)

No data available for Orthologs for MT-TH Gene

Paralogs for MT-TH Gene

No data available for Paralogs for MT-TH Gene

Variants for MT-TH Gene

Relevant External Links for MT-TH Gene

Human Gene Mutation Database (HGMD)
MT-TH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-TH Gene

Disorders for MT-TH Gene

MalaCards: The human disease database

(7) MalaCards diseases for MT-TH Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial non-syndromic sensorineural deafness
  • isolated mitochondrial neurosensory deafness
myoclonic epilepsy associated with ragged-red fibers
  • merrf syndrome
melas, mt-th-related
merrf/melas overlap syndrome
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search MT-TH in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MT-TH: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for MT-TH Gene

Publications for MT-TH Gene

  1. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. (PMID: 24920829) Gong S. … Guan M.X. (Nucleic Acids Res. 2014) 3 64
  2. Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men. (PMID: 24931671) Siwar B.G. … Leila A.K. (Biochem. Biophys. Res. Commun. 2014) 3 64
  3. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A. … Tiwari S. (BMC Bioinformatics 2009) 3 64

Products for MT-TH Gene

Sources for MT-TH Gene

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