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    Ptcd2 pentatricopeptide repeat domain 2 [ Mus musculus (house mouse) ]

    Gene ID: 68927, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ptcd2provided by MGI
    Official Full Name
    pentatricopeptide repeat domain 2provided by MGI
    Primary source
    MGI:MGI:1916177
    See related
    Ensembl:ENSMUSG00000021650 AllianceGenome:MGI:1916177
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1190005P08Rik
    Summary
    Acts upstream of or within several processes, including animal organ development; muscle cell development; and regulation of mRNA processing. Located in mitochondrion. Is expressed in central nervous system and sensory organ. Orthologous to human PTCD2 (pentatricopeptide repeat domain 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart adult (RPKM 13.1), CNS E18 (RPKM 11.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    13 D1; 13 52.76 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (99456157..99481215, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (99319649..99344678, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41036 Neighboring gene zinc finger protein 366 Neighboring gene STARR-seq mESC enhancer starr_35452 Neighboring gene STARR-seq mESC enhancer starr_35453 Neighboring gene STARR-seq mESC enhancer starr_35456 Neighboring gene STARR-positive B cell enhancer mm9_chr13:100123104-100123405 Neighboring gene mitochondrial ribosomal protein S27 Neighboring gene RIKEN cDNA 6430562O15 gene Neighboring gene microtubule-associated protein 1B Neighboring gene STARR-seq mESC enhancer starr_35459

    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. Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria. Xu F, et al. Biochem J, 2008 Nov 15. PMID 18729827
    2. A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. McKee AE, et al. BMC Dev Biol, 2005 Jul 20. PMID 16033648, Free PMC Article
    3. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001
    4. Exchangeable gene trap using the Cre/mutated lox system. Araki K, et al. Cell Mol Biol (Noisy-le-grand), 1999 Jul. PMID 10512203
    5. Matrix-screening reveals a vast potential for direct protein-protein interactions among RNA binding proteins. Lang B, et al. Nucleic Acids Res, 2021 Jul 9. PMID 34133714, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PTCD2 protein is involved in processing RNA transcripts involving cytochrome b derived from mitochondrial DNA.
      Title: Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within liver development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of mRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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
    		 PubMed 

    General protein information

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    Preferred Names
    pentatricopeptide repeat-containing protein 2, mitochondrial

    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_026873.2 → NP_081149.1  pentatricopeptide repeat-containing protein 2, mitochondrial

      See identical proteins and their annotated locations for NP_081149.1

      Status: PROVISIONAL

      Source sequence(s)
      AC132347
      Consensus CDS
      CCDS26721.1
      UniProtKB/Swiss-Prot
      Q8R3K3, Q91VG3, Q9D0S7
      Related
      ENSMUSP00000022153.7, ENSMUST00000022153.8
      Conserved Domains (2) summary
      sd00004
      Location:130 → 152
      PPR; PPR repeat [structural motif]
      pfam13041
      Location:157 → 203
      PPR_2; PPR repeat family

    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
      99456157..99481215 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036158153.1 → XP_036014046.1  pentatricopeptide repeat-containing protein 2, mitochondrial isoform X1

      Conserved Domains (2) summary
      sd00004
      Location:130 → 152
      PPR; PPR repeat [structural motif]
      pfam10037
      Location:128 → 205
      MRP-S27; Mitochondrial 28S ribosomal protein S27
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R3K3.1 GenPept UniProtKB/Swiss-Prot:Q8R3K3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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