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

Summary

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 liver development; regulation of macromolecule metabolic process; and ventricular cardiac muscle tissue morphogenesis. 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, Dec 2024]
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

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Endonuclease-mediated (1)
Gene trapped (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ptcd2 (e-PCR), detects polymorphism
- UniSTS:479214

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
involved_in 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
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 more info	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)

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

NC_000079.7 Reference GRCm39 C57BL/6J

Range

99456157..99481215 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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