• Gene id: 29920

Gene Summary

• Gene Symbol: PYCR2   Gene   UCSC   Ensembl
• Aliases: HLD10, P5CR2
• Gene name: pyrroline-5-carboxylate reductase 2
• Alternate names: pyrroline-5-carboxylate reductase 2, P5C reductase 2, pyrroline 5-carboxylate reductase isoform, pyrroline-5-carboxylate reductase family member 2,
• Gene location: 1q42.12 (36245927: 36182059)     Exons: 10     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 616406

Protein Summary

• Protein general information: Q96C36  
  • Name: Pyrroline 5 carboxylate reductase 2 (P5C reductase 2) (P5CR 2) (EC 1.5.1.2)
  • Length: 320  
  • Mass: 33637
  • Tissue specificity: Detected in erythrocytes (at protein level) (PubMed
• Sequence:

  MSVGFIGAGQLAYALARGFTAAGILSAHKIIASSPEMNLPTVSALRKMGVNLTRSNKETVKHSDVLFLAVKPHII
  PFILDEIGADVQARHIVVSCAAGVTISSVEKKLMAFQPAPKVIRCMTNTPVVVQEGATVYATGTHALVEDGQLLE
  QLMSSVGFCTEVEEDLIDAVTGLSGSGPAYAFMALDALADGGVKMGLPRRLAIQLGAQALLGAAKMLLDSEQHPC
  QLKDNVCSPGGATIHALHFLESGGFRSLLINAVEASCIRTRELQSMADQEKISPAALKKTLLDRVKLESPTVSTL
  TPSSPGKLLTRSLALGGKKD

• Structural information:
  • Interpro: IPR008927  IPR036291  IPR028939  IPR029036  IPR000304  
  • Prosite: PS00521
  • STRING: ENSP00000342502
• Other Databases: GeneCards:  PYCR2  Malacards:  PYCR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004735	pyrroline-5-carboxylate reductase activity	IBA	molecular function
GO:0055129	L-proline biosynthetic process	IBA	biological process
GO:0006561	proline biosynthetic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0034599	cellular response to oxidative stress	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004735	pyrroline-5-carboxylate reductase activity	IEA	molecular function
GO:0006561	proline biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006561	proline biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004735	pyrroline-5-carboxylate reductase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0055129	L-proline biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00330	Arginine and proline metabolism

Diseases

Associated diseases	References
Hypomyelinating leukodystrophy	KEGG:H00679
Hypomyelinating leukodystrophy	KEGG:H00679
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq