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Fars2 phenylalanine-tRNA synthetase 2, mitochondrial [ Mus musculus (house mouse) ]

Gene ID: 69955, updated on 9-Dec-2024

Summary

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Official Symbol
Fars2provided by MGI
Official Full Name
phenylalanine-tRNA synthetase 2, mitochondrialprovided by MGI
Primary source
MGI:MGI:1917205
See related
Ensembl:ENSMUSG00000021420 AllianceGenome:MGI:1917205
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fars1; pheRS
Summary
Predicted to enable phenylalanine-tRNA ligase activity and tRNA binding activity. Predicted to be involved in phenylalanyl-tRNA aminoacylation and tRNA processing. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 14 and hereditary spastic paraplegia 77. Orthologous to human FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in testis adult (RPKM 22.0), heart adult (RPKM 16.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Fars2 in Genome Data Viewer
Location:
13 A3.3; 13 14.44 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (36301373..36721569)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (36117428..36537595)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_34184 Neighboring gene predicted gene, 30127 Neighboring gene protein phosphatase 1, regulatory subunit 3G Neighboring gene transmembrane p24 trafficking protein 10, pseudogene Neighboring gene predicted gene, 18132 Neighboring gene LYR motif containing 4 Neighboring gene STARR-positive B cell enhancer ABC_E7224 Neighboring gene STARR-seq mESC enhancer starr_34186 Neighboring gene STARR-seq mESC enhancer starr_34187 Neighboring gene STARR-seq mESC enhancer starr_34188 Neighboring gene predicted gene, 40912 Neighboring gene STARR-seq mESC enhancer starr_34189 Neighboring gene STARR-seq mESC enhancer starr_34190 Neighboring gene STARR-seq mESC enhancer starr_34191 Neighboring gene STARR-seq mESC enhancer starr_34192 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:36458293-36458547 Neighboring gene STARR-seq mESC enhancer starr_34193 Neighboring gene STARR-seq mESC enhancer starr_34195 Neighboring gene high mobility group box 1-like pseudogene Neighboring gene predicted gene, 46410

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System. Li B, et al. Circulation, 2024 Apr 16. PMID 38362779, Free PMC Article
  2. RREB1 regulates neuronal proteostasis and the microtubule network. Griffin EN, et al. Sci Adv, 2024 Jan 12. PMID 38198538, Free PMC Article
  3. Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function. Chen X, et al. Cell Biosci, 2022 Jul 6. PMID 35794642, Free PMC Article
  4. Identification and analysis of key circRNAs in the mouse embryonic ovary provides insight into primordial follicle development. Wang X, et al. BMC Genomics, 2024 Feb 3. PMID 38310234, Free PMC Article
  5. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
    Title: FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • 2810431B21Rik, 6720478K01Rik

Gene Ontology Provided by MGI

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 ISO
Inferred from Sequence Orthology
more info
  
enables phenylalanine-tRNA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables tRNA binding ISO
Inferred from Sequence Orthology
more info
  
enables tRNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in phenylalanyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phenylalanyl-tRNA aminoacylation ISO
Inferred from Sequence Orthology
more info
  
involved_in phenylalanyl-tRNA aminoacylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in tRNA processing ISO
Inferred from Sequence Orthology
more info
  
involved_in tRNA processing ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
phenylalanine--tRNA ligase, mitochondrial
Names
phenylalanine-tRNA synthetase 1 (mitochondrial)
NP_001034278.1
NP_077236.1
XP_006516832.1
XP_006516833.1
XP_011242647.1
XP_030103262.1
XP_030103263.1
XP_030103264.1
XP_030103265.1
XP_030103266.1
XP_036014053.1
XP_036014054.1
XP_036014055.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001039189.2 → NP_001034278.1  phenylalanine--tRNA ligase, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001034278.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks part of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC121942, AK020164, AK076259, BY101501, BY290041
    Consensus CDS
    CCDS26454.1
    UniProtKB/TrEMBL
    G3X9Q4
    Related
    ENSMUSP00000097177.3, ENSMUST00000099582.4
    Conserved Domains (1) summary
    PLN02788
    Location:1 → 218
    PLN02788; phenylalanine-tRNA synthetase

  2. NM_024274.3 → NP_077236.1  phenylalanine--tRNA ligase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_077236.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC121942, AK020164, AK054370, AK076259, BY101501, BY290041
    Consensus CDS
    CCDS26453.1
    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Related
    ENSMUSP00000021857.6, ENSMUST00000021857.13
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    36301373..36721569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158162.1 → XP_036014055.1  phenylalanine--tRNA ligase, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A0A286YCZ5
    Related
    ENSMUSP00000153019.2, ENSMUST00000224916.2
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 407
    PLN02788; phenylalanine-tRNA synthetase

  2. XM_006516770.5 → XP_006516833.1  phenylalanine--tRNA ligase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A286YCZ5
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 406
    PLN02788; phenylalanine-tRNA synthetase

  3. XM_011244345.3 → XP_011242647.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011242647.1

    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Related
    ENSMUSP00000153658.2, ENSMUST00000224611.2
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase

  4. XM_006516769.4 → XP_006516832.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006516832.1

    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase

  5. XM_030247405.1 → XP_030103265.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    G3X9Q4
    Conserved Domains (1) summary
    PLN02788
    Location:1 → 218
    PLN02788; phenylalanine-tRNA synthetase

  6. XM_030247404.1 → XP_030103264.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    G3X9Q4
    Conserved Domains (1) summary
    PLN02788
    Location:1 → 218
    PLN02788; phenylalanine-tRNA synthetase

  7. XM_030247406.2 → XP_030103266.1  phenylalanine--tRNA ligase, mitochondrial isoform X4

    UniProtKB/TrEMBL
    G3X9Q4
    Conserved Domains (1) summary
    PLN02788
    Location:1 → 218
    PLN02788; phenylalanine-tRNA synthetase

  8. XM_030247402.2 → XP_030103262.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase

  9. XM_030247403.2 → XP_030103263.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Related
    ENSMUSP00000153628.2, ENSMUST00000224241.2
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase

  10. XM_036158160.1 → XP_036014053.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase

  11. XM_036158161.1 → XP_036014054.1  phenylalanine--tRNA ligase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q3TBZ7, Q99M01, Q9CYY0
    UniProtKB/TrEMBL
    A0A286YCZ5
    Conserved Domains (1) summary
    PLN02788
    Location:32 → 450
    PLN02788; phenylalanine-tRNA synthetase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99M01.1 GenPept UniProtKB/Swiss-Prot:Q99M01

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