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

    Gene ID: 10667, updated on 13-May-2024

    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; AllianceGenome:HGNC:21062
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FARS2 in Genome Data Viewer
    Location:
    6p25.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (5249934..5771583)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (5119147..5640982)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (5261240..5771816)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene LYRM4 antisense RNA 1 Neighboring gene LYR motif containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5193017-5193524 Neighboring gene microRNA 3691 Neighboring gene Sharpr-MPRA regulatory region 15549 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:5230418-5231617 Neighboring gene uncharacterized LOC124901249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23904 Neighboring gene Sharpr-MPRA regulatory region 4425 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23906 Neighboring gene NANOG hESC enhancer GRCh37_chr6:5412113-5412622 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:5438556-5439472 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:5439473-5440389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5456946-5457932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23907 Neighboring gene FARS2 antisense RNA 1 Neighboring gene MPRA-validated peak5636 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23908 Neighboring gene NANOG hESC enhancer GRCh37_chr6:5529614-5530223 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:5541695-5542894 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:5581546-5582745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23910 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 37 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:5639236-5640099 Neighboring gene uncharacterized LOC101927950 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:5665450-5666649 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:5672975-5673971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:5737751-5738252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5783313-5783996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5783997-5784680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5804076-5804576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5804577-5805077 Neighboring gene uncharacterized LOC124901250 Neighboring gene ribosomal protein L34 pseudogene 16

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phenylalanine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phenylalanine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phenylalanine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in phenylalanyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phenylalanyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    involved_in tRNA processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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
    XP_047274042.1
    XP_047274043.1
    XP_054210022.1
    XP_054210023.1
    XP_054210024.1
    XP_054210025.1
    XP_054210026.1
    XP_054210027.1
    XP_054210028.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033003.3 RefSeqGene

      Range
      16581..526651
      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
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Related
      ENSP00000316335.5, ENST00000324331.10
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    2. NM_001374875.1NP_001361804.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    3. NM_001374876.1NP_001361805.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    4. NM_001374877.1NP_001361806.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    5. NM_001374878.1NP_001361807.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    6. NM_001374879.1NP_001361808.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    7. NM_001375257.1NP_001362186.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Consensus CDS
      CCDS4494.1
      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase
    8. NM_001375258.1NP_001362187.1  phenylalanine--tRNA ligase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Conserved Domains (1) summary
      PLN02788
      Location:29406
      PLN02788; phenylalanine-tRNA synthetase
    9. NM_001375259.1NP_001362188.1  phenylalanine--tRNA ligase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Conserved Domains (1) summary
      PLN02788
      Location:1218
      PLN02788; phenylalanine-tRNA synthetase
    10. NM_001375260.1NP_001362189.1  phenylalanine--tRNA ligase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL022097, AL121978, AL133473, AL392184, AL590868
      Conserved Domains (1) summary
      PLN02788
      Location:1218
      PLN02788; phenylalanine-tRNA synthetase
    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
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
      UniProtKB/TrEMBL
      A0A3B3ITR6
      Related
      ENSP00000274680.4, ENST00000274680.9
      Conserved Domains (1) summary
      PLN02788
      Location:29450
      PLN02788; phenylalanine-tRNA synthetase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      5249934..5771583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418086.1XP_047274042.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
    2. XM_047418087.1XP_047274043.1  phenylalanine--tRNA ligase, mitochondrial isoform X6

    3. XM_011514248.4XP_011512550.1  phenylalanine--tRNA ligase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      A0A3B3ITR6
      Related
      ENSP00000497889.1, ENST00000648580.1
      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 ...
    4. XM_011514249.3XP_011512551.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

      UniProtKB/TrEMBL
      A0A3B3ITR6
      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 ...
    5. XM_011514247.4XP_011512549.1  phenylalanine--tRNA ligase, mitochondrial isoform X2

      UniProtKB/TrEMBL
      A0A3B3ITR6
      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 ...
    6. XM_011514251.4XP_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 ...
    7. XM_006714966.4XP_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_007059197.1 RNA Sequence

    2. XR_007059196.1 RNA Sequence

    3. XR_926027.4 RNA Sequence

    4. XR_007059198.1 RNA Sequence

    5. XR_007059199.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      5119147..5640982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354047.1XP_054210022.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B2R664, O95363, Q53F66, Q5TCS3, Q6FG29, Q9NPY7, Q9P062
    2. XM_054354053.1XP_054210028.1  phenylalanine--tRNA ligase, mitochondrial isoform X6

    3. XM_054354049.1XP_054210024.1  phenylalanine--tRNA ligase, mitochondrial isoform X3

    4. XM_054354050.1XP_054210025.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

    5. XM_054354048.1XP_054210023.1  phenylalanine--tRNA ligase, mitochondrial isoform X2

    6. XM_054354051.1XP_054210026.1  phenylalanine--tRNA ligase, mitochondrial isoform X5

    7. XM_054354052.1XP_054210027.1  phenylalanine--tRNA ligase, mitochondrial isoform X6

    RNA

    1. XR_008487238.1 RNA Sequence

    2. XR_008487237.1 RNA Sequence

    3. XR_008487239.1 RNA Sequence

    4. XR_008487236.1 RNA Sequence

    5. XR_008487240.1 RNA Sequence

    6. XR_008487241.1 RNA Sequence