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    FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 10667, updated on 20-Dec-2019

    Summary

    Official Symbol
    FARS2provided by HGNC
    Official Full Name
    phenylalanyl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:21062
    See related
    Ensembl:ENSG00000145982 MIM:611592
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FARS1; PheRS; SPG77; COXPD14; HSPC320; mtPheRS
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.7), testis (RPKM 1.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See FARS2 in Genome Data Viewer
    Location:
    6p25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (5261007..5771583)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (5261251..5771816)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LYRM4 antisense RNA 1 Neighboring gene LYR motif containing 4 Neighboring gene protein phosphatase 1 regulatory subunit 3G Neighboring gene microRNA 3691 Neighboring gene uncharacterized LOC101927972 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 37 Neighboring gene uncharacterized LOC101927950 Neighboring gene uncharacterized LOC107986515 Neighboring gene ribosomal protein L34 pseudogene 16 Neighboring gene uncharacterized LOC105374898 Neighboring gene uncharacterized LOC107986516 Neighboring gene RNA, 7SL, cytoplasmic 221, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    NHGRI GWA Catalog
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    NHGRI GWA Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    phenylalanine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phenylalanine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phenylalanine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    phenylalanyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phenylalanyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    tRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    phenylalanine--tRNA ligase, mitochondrial
    Names
    dJ236A3.1 (phenylalanine-tRNA synthetase)
    dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))
    mitochondrial PHERS
    phenylalanine tRNA ligase 2, mitochondrial
    phenylalanine translase
    phenylalanine-tRNA synthetase 1 (mitochondrial)
    NP_001305801.1
    NP_001361804.1
    NP_001361805.1
    NP_001361806.1
    NP_001361807.1
    NP_001361808.1
    NP_001362186.1
    NP_001362187.1
    NP_001362188.1
    NP_001362189.1
    NP_006558.1
    XP_006715029.1
    XP_011512549.1
    XP_011512550.1
    XP_011512551.1
    XP_011512553.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033003.2 RefSeqGene

      Range
      5163..515233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318872.2NP_001305801.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      O95363
      Related
      ENSP00000316335.5, ENST00000324331.10
      Conserved Domains (3) summary
      smart00896
      Location:358450
      FDX-ACB; Ferredoxin-fold anticodon binding domain
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
      cd00496
      Location:84338
      PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
    2. NM_001374875.1NP_001361804.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    3. NM_001374876.1NP_001361805.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    4. NM_001374877.1NP_001361806.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    5. NM_001374878.1NP_001361807.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    6. NM_001374879.1NP_001361808.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    7. NM_001375257.1NP_001362186.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    8. NM_001375258.1NP_001362187.1  phenylalanine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    9. NM_001375259.1NP_001362188.1  phenylalanine--tRNA ligase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    10. NM_001375260.1NP_001362189.1  phenylalanine--tRNA ligase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
    11. NM_006567.5NP_006558.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_006558.1

      Status: REVIEWED

      Source sequence(s)
      AF097441, BC020239, CA432122, DA516347
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      O95363
      Related
      ENSP00000274680.3, ENST00000274680.8
      Conserved Domains (3) summary
      smart00896
      Location:358450
      FDX-ACB; Ferredoxin-fold anticodon binding domain
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
      cd00496
      Location:84338
      PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      5261007..5771583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514248.3XP_011512550.1  phenylalanine--tRNA ligase, mitochondrial isoform X3

      Conserved Domains (2) summary
      smart00896
      Location:358408
      FDX-ACB; Ferredoxin-fold anticodon binding domain
      cd00496
      Location:84338
      PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
    2. XM_011514249.2XP_011512551.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

      Related
      ENSP00000497889.1, ENST00000648580.1
      Conserved Domains (2) summary
      smart00896
      Location:358404
      FDX-ACB; Ferredoxin-fold anticodon binding domain
      cd00496
      Location:84338
      PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
    3. XM_011514247.3XP_011512549.1  phenylalanine--tRNA ligase, mitochondrial isoform X2

      Conserved Domains (2) summary
      smart00896
      Location:358404
      FDX-ACB; Ferredoxin-fold anticodon binding domain
      cd00496
      Location:84338
      PheRS_alpha_core; Phenylalanyl-tRNA synthetase (PheRS) alpha chain catalytic core domain. PheRS belongs to class II aminoacyl-tRNA synthetases (aaRS) based upon its structure and the presence of three characteristic sequence motifs. This domain is primarily responsible ...
    4. XM_011514251.3XP_011512553.1  phenylalanine--tRNA ligase, mitochondrial isoform X5

      Conserved Domains (1) summary
      cl00268
      Location:84302
      class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...
    5. XM_006714966.3XP_006715029.1  phenylalanine--tRNA ligase, mitochondrial isoform X6

      Conserved Domains (1) summary
      cl00268
      Location:84303
      class_II_aaRS-like_core; Class II tRNA amino-acyl synthetase-like catalytic core domain. Class II amino acyl-tRNA synthetases (aaRS) share a common fold and generally attach an amino acid to the 3' OH of ribose of the appropriate tRNA. PheRS is an exception in that it attaches ...

    RNA

    1. XR_926028.2 RNA Sequence

    2. XR_926027.3 RNA Sequence

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