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

Gene ID: 10667, updated on 1-Mar-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
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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
    UniProtKB/TrEMBL
    A0A3B3ITR6
  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
    UniProtKB/TrEMBL
    A0A3B3ITR6
  2. XM_054354053.1XP_054210028.1  phenylalanine--tRNA ligase, mitochondrial isoform X6

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

    UniProtKB/TrEMBL
    A0A3B3ITR6
  4. XM_054354050.1XP_054210025.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    A0A3B3ITR6
  5. XM_054354048.1XP_054210023.1  phenylalanine--tRNA ligase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A3B3ITR6
  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