help  | about  | cite  | software

Gene : GTPBP3 Homo sapiens

Name  ? GTP binding protein 3, mitochondrial Cytological Location  19p13.11
Brief Description  GTP binding protein 3, mitochondrial
Description  This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
  • synonyms:
  • AF360742,
  • COXPD23,
  • NM_032620,
  • THDF1,
  • OTTHUMG00000182766,
  • GTPBG3,
  • HGNC:14880,
  • MTGP1,
  • THDF1,
  • GTPBG3,
  • MSS1,
  • FLJ14700,
  • uc002ngg.5,
  • MTGP1,
  • GTPBP3,
  • MSS1
  • identifiers:
  • 84705,
  • ENSG00000130299,
  • GTPBP3

Genome feature

Region: gene ? Length: 7750  
Location: 19:17334982-17342731 Cyto location: 19p13.11

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



828 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results