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This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
PYCR2 (Pyrroline-5-Carboxylate Reductase 2) is a Protein Coding gene. Diseases associated with PYCR2 include Leukodystrophy, Hypomyelinating, 10 and Primary Autosomal Recessive Microcephaly. Among its related pathways are Viral mRNA Translation and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include NAD binding and pyrroline-5-carboxylate reductase activity. An important paralog of this gene is PYCR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004735 | pyrroline-5-carboxylate reductase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 24930674 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IDA | 23024808 |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
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2 | Arginine and proline metabolism | ||
3 | Carbon metabolism | ||
4 | Amino acid synthesis and interconversion (transamination) | ||
5 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006561 | proline biosynthetic process | IEA,IDA | 23024808 |
GO:0008652 | cellular amino acid biosynthetic process | IEA,TAS | -- |
GO:0034599 | cellular response to oxidative stress | IMP | 25865492 |
GO:0055114 | oxidation-reduction process | IEA | -- |
GO:0055129 | L-proline biosynthetic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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1-Pyrroline-5-carboxylic acid |
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2906-39-0 |
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Hydrogen Ion |
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Pyrroline hydroxycarboxylic acid |
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22573-88-2 |
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ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
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SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PYCR2 30 |
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Dog (Canis familiaris) |
Mammalia | -- 31 |
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OneToMany | |
PYCR2 30 |
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Cow (Bos Taurus) |
Mammalia | PYCR2 30 31 |
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OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Pycr2 30 |
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Mouse (Mus musculus) |
Mammalia | Pycr2 30 17 31 |
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OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
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OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
PYCR2 30 |
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Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
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OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pycr1 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.14102 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | pycr1a 31 |
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ManyToMany | |
pycr1b 30 31 |
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ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5840 31 |
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OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | M153.1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRO3 31 |
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OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9500 31 |
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OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716064 | Benign: not provided | 225,921,374(-) | A/G | INTRON_VARIANT | |
729355 | Likely Benign: not provided | 225,921,243(-) | G/A | SYNONYMOUS_VARIANT | |
730211 | Benign: not provided | 225,920,477(-) | G/C | MISSENSE_VARIANT | |
732357 | Likely Benign: not provided | 225,923,780(-) | G/A | INTRON_VARIANT | |
734289 | Likely Benign: not provided | 225,922,234(-) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
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leukodystrophy, hypomyelinating, 10 |
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primary autosomal recessive microcephaly |
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leukodystrophy |
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autosomal recessive cutis laxa type iii |
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cutis laxa, autosomal recessive, type iib |
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