Human Gene FARS2 (uc003mwr.2) Description and Page Index
Description: Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_006567): This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Transcript (Including UTRs) Position: hg19 chr6:5,261,584-5,771,816 Size: 510,233 Total Exon Count: 7 Strand: + Coding Region Position: hg19 chr6:5,368,804-5,771,662 Size: 402,859 Coding Exon Count: 6
ID:SYFM_HUMAN DESCRIPTION: RecName: Full=Phenylalanine--tRNA ligase, mitochondrial; EC=22.214.171.124; AltName: Full=Phenylalanyl-tRNA synthetase; Short=PheRS; Flags: Precursor; FUNCTION: Catalyzes direct attachment of p-Tyr (Tyr) to tRNAPhe. Permits also, with a lower efficiency, the attachment of m-Tyr to tRNAPhe, thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. CATALYTIC ACTIVITY: ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe). SUBUNIT: Monomer. SUBCELLULAR LOCATION: Mitochondrion matrix (Potential). SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family. SIMILARITY: Contains 1 FDX-ACB domain. SEQUENCE CAUTION: Sequence=AAF28998.1; Type=Frameshift; Positions=414;
Genetic Association Studies of Complex Diseases and Disorders
Body Height Amidou N'Diaye et al. PLoS genetics 2011, Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry., PLoS genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95363
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.