Pycr2 pyrroline-5-carboxylate reductase family, member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pycr2provided by MGI
Official Full Name: pyrroline-5-carboxylate reductase family, member 2provided by MGI
Primary source: MGI:MGI:1277956
See related: Ensembl:ENSMUSG00000026520 AllianceGenome:MGI:1277956
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: P5cr2; 1810018M05Rik
Summary: Predicted to enable pyrroline-5-carboxylate reductase activity. Predicted to be involved in L-proline biosynthetic process and cellular response to oxidative stress. Predicted to act upstream of or within cellular amino acid biosynthetic process. Predicted to be located in mitochondrion. Is expressed in several structures, including alimentary system; brain; respiratory system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 10. Orthologous to human PYCR2 (pyrroline-5-carboxylate reductase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 34.4), ovary adult (RPKM 30.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H4; 1 84.46 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (180731839..180735653)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (180904274..180908088)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Genetic analysis of Pycr1 and Pycr2 in mice.
Title: Genetic analysis of Pycr1 and Pycr2 in mice.
Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
Title: Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables pyrroline-5-carboxylate reductase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in L-proline biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amino acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in proline biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: pyrroline-5-carboxylate reductase 2

Names: P5C reductase 2; P5CR 2

NP_598466.1

EC 1.5.1.2

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.