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

    Gene ID: 69955, updated on 27-Nov-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, Nov 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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