Aliases for MT-TH Gene

Data sources for MT-TH Gene:

RNA type for MT-TH Gene

tRNA

Aliases for MT-TH Gene

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-His (CAU/C)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TH include Mitochondrial Disease With Hypertrophic Cardiomyopathy and Deafness, Nonsyndromic Sensorineural, Mitochondrial. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TH 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-TH Gene

Genomics for MT-TH Gene

Genomic Locations for MT-TH Gene

Latest Assembly
chrMT:12,137-12,207
(GRCh38/hg38)
Size:
71 bases
Orientation:
Plus strand

Previous Assembly
chrMT:12,138-12,206
(GRCh37/hg19 by Ensembl)
Size:
69 bases
Orientation:
Plus strand

Genomic View for MT-TH Gene

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

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TH Gene

No data available for GeneHancer (GH) 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

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

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-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
nucleus 3
mitochondrion 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-TH Gene

Pathways & Interactions for MT-TH Gene

PathCards logo

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

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

None

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

Drugs & Compounds for MT-TH Gene

No Compound Related Data Available

Transcripts for MT-TH Gene

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

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS00001FBD75_9606 tRNA 69 3

Ensembl: ENST00000387441 (view in UCSC) ,

Rfam: RF00005,

ENA: View 51840 records in RNAcentral

URS000000EB00_9606 tRNA 69 1

ENA: AP011057.1:12138..12206:tRNA,

URS0000013C59_9606 tRNA 69 1

ENA: View 21 records in RNAcentral

URS000001FD4B_9606 tRNA 69 1

ENA: JQ705146.1:12138..12206:tRNA,

URS0000048580_9606 tRNA 69 1

ENA: JX893367.1:12114..12182:tRNA,

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

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

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

Expression for MT-TH Gene

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

Evidence on tissue expression from TISSUES for MT-TH Gene

  • Skin(2.1)

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
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-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 and mRNA Expression by UniProt/SwissProt 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)
Alliance of Genome Resources:
Additional Orthologs for MT-TH

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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TH 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
638146 Pathogenic: Pearson syndrome 8,479(+) ACCAAAGCCCATAAAA
NC_012920.1:m.8480_13440del
INITIATIOR_CODON_VARIANT,FRAMESHIFT
918020 Not Provided: not provided 12,187(+) C/T
NC_012920.1:m.12187C>T
rs1057520099 Conflicting Interpretations: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; not provided 12,175(+) T/C
Single allele
rs121434473 Pathogenic: Pigmentary retinopathy and sensorineural deafness 12,183(+) G/A
m.12183G>A

Additional Variant Information for MT-TH Gene

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

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-TH Gene

Disorders for MT-TH Gene

MalaCards: The human disease database

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

Additional Disease Information for MT-TH

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

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

Publications for MT-TH 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. Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men. (PMID: 24931671) Siwar BG … Leila AK (Biochemical and biophysical research communications 2014) 3
  3. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. (PMID: 24920829) Gong S … Guan MX (Nucleic acids research 2014) 3
  4. Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. (PMID: 21931169) Yan X … Guan MX (Journal of medical genetics 2011) 72
  5. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A … Tiwari S (BMC bioinformatics 2009) 3

Products for MT-TH Gene

Sources for MT-TH Gene