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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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