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Aliases for PYCR2 Gene

Aliases for PYCR2 Gene

  • Pyrroline-5-Carboxylate Reductase Family, Member 2 2 3
  • P5C Reductase 2 3 4
  • EC 1.5.1.2 4 63
  • Pyrroline 5-Carboxylate Reductase Isoform 3
  • P5CR 2 4
  • HLD10 3
  • P5CR2 3

External Ids for PYCR2 Gene

Previous GeneCards Identifiers for PYCR2 Gene

  • GC01M223083
  • GC01M222415
  • GC01M224174
  • GC01M226074
  • GC01M196625
  • GC01M226107

Summaries for PYCR2 Gene

Entrez Gene Summary for PYCR2 Gene

  • 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]

GeneCards Summary for PYCR2 Gene

PYCR2 (Pyrroline-5-Carboxylate Reductase Family, Member 2) is a Protein Coding gene. Diseases associated with PYCR2 include leukodystrophy, hypomyelinating, 10. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include NAD binding and pyrroline-5-carboxylate reductase activity. An important paralog of this gene is ENSG00000255835.

UniProtKB/Swiss-Prot for PYCR2 Gene

  • Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYCR2 Gene

Genomics for PYCR2 Gene

Regulatory Elements for PYCR2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PYCR2 Gene

Chromosome:
1
Start:
225,919,877 bp from pter
End:
225,924,340 bp from pter
Size:
4,464 bases
Orientation:
Minus strand

Genomic View for PYCR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PYCR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PYCR2 Gene

Proteins for PYCR2 Gene

  • Protein details for PYCR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C36-P5CR2_HUMAN
    Recommended name:
    Pyrroline-5-carboxylate reductase 2
    Protein Accession:
    Q96C36
    Secondary Accessions:
    • A8K798
    • Q7Z515
    • Q9Y5J4

    Protein attributes for PYCR2 Gene

    Size:
    320 amino acids
    Molecular mass:
    33637 Da
    Quaternary structure:
    • Homodecamer; composed of 5 homodimers.

neXtProt entry for PYCR2 Gene

Proteomics data for PYCR2 Gene at MOPED

Post-translational modifications for PYCR2 Gene

  • Ubiquitination at Lys 116 and Lys 307
  • Modification sites at PhosphoSitePlus

Other Protein References for PYCR2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for PYCR2

Domains & Families for PYCR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96C36

UniProtKB/Swiss-Prot:

P5CR2_HUMAN :
  • Belongs to the pyrroline-5-carboxylate reductase family.
Family:
  • Belongs to the pyrroline-5-carboxylate reductase family.
genes like me logo Genes that share domains with PYCR2: view

No data available for Gene Families for PYCR2 Gene

Function for PYCR2 Gene

Molecular function for PYCR2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.64 mM for NADH {ECO:0000269 PubMed:2722838}; KM=0.04 mM for NADPH {ECO:0000269 PubMed:2722838}; KM=1.49 mM for pyrroline-5-carboxylate (in the presence of NADH) {ECO:0000269 PubMed:2722838}; KM=0.23 mM for pyrroline-5-carboxylate (in the presence of NADPH) {ECO:0000269 PubMed:2722838}; Vmax=28.5 umol/min/ug enzyme (in the presence of NADH) {ECO:0000269 PubMed:2722838}; Vmax=3.7 umol/min/ug enzyme (in the presence of NADPH) {ECO:0000269 PubMed:2722838};
UniProtKB/Swiss-Prot CatalyticActivity:
L-proline + NAD(P)(+) = 1-pyrroline-5-carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to competitive inhibition by NADP. Not inhibited by proline.
UniProtKB/Swiss-Prot Function:
Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH.

Enzyme Numbers (IUBMB) for PYCR2 Gene

Gene Ontology (GO) - Molecular Function for PYCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004735 pyrroline-5-carboxylate reductase activity EXP --
genes like me logo Genes that share ontologies with PYCR2: view
genes like me logo Genes that share phenotypes with PYCR2: view

Animal Model Products

miRNA for PYCR2 Gene

miRTarBase miRNAs that target PYCR2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PYCR2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PYCR2 Gene

Localization for PYCR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYCR2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PYCR2 Gene COMPARTMENTS Subcellular localization image for PYCR2 gene
Compartment Confidence
chloroplast 1

Gene Ontology (GO) - Cellular Components for PYCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with PYCR2: view

Pathways & Interactions for PYCR2 Gene

genes like me logo Genes that share pathways with PYCR2: view

UniProtKB/Swiss-Prot Q96C36-P5CR2_HUMAN

  • Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1

Gene Ontology (GO) - Biological Process for PYCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006561 proline biosynthetic process --
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PYCR2: view

No data available for SIGNOR curated interactions for PYCR2 Gene

Drugs & Compounds for PYCR2 Gene

(5) Drugs for PYCR2 Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
hydroxyproline Approved, Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Agonist, Activator 0
proline Nutra 20

(7) Additional Compounds for PYCR2 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
1-Pyrroline-5-carboxylic acid
  • (S)-1-pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylate
  • 1-Pyrroline-5-carboxylic acid
  • 3,4-Dihydro-2h-pyrrole-2-carboxylate
  • 3,4-Dihydro-2h-pyrrole-2-carboxylic acid
2906-39-0
4-Hydroxy-L-proline
  • (2S)-4-hydroxypyrrolidine-2-carboxylic acid
  • (4S)-4-hydroxy-L-Proline
  • 4-Hydroxy-L-Proline
  • Allo-4-Hydroxy-L-proline
  • Allo-4-Hydroxyproline
30724-02-8
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with PYCR2: view

Transcripts for PYCR2 Gene

Unigene Clusters for PYCR2 Gene

Pyrroline-5-carboxylate reductase family, member 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PYCR2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PYCR2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - -
SP8:
SP9:

Relevant External Links for PYCR2 Gene

GeneLoc Exon Structure for
PYCR2
ECgene alternative splicing isoforms for
PYCR2

Expression for PYCR2 Gene

mRNA expression in normal human tissues for PYCR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PYCR2 Gene

This gene is overexpressed in Skin (12.1), Salivary gland (10.4), and Breast (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PYCR2 Gene



SOURCE GeneReport for Unigene cluster for PYCR2 Gene Hs.654718

mRNA Expression by UniProt/SwissProt for PYCR2 Gene

Q96C36-P5CR2_HUMAN
Tissue specificity: Detected in erythrocytes (at protein level).
genes like me logo Genes that share expression patterns with PYCR2: view

Protein tissue co-expression partners for PYCR2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PYCR2 Gene

Orthologs for PYCR2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PYCR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PYCR2 35
  • 90.94 (n)
  • 95.62 (a)
PYCR2 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PYCR2 35
  • 89.27 (n)
  • 94.06 (a)
-- 36
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pycr2 35
  • 87.6 (n)
  • 92.19 (a)
Pycr2 16
Pycr2 36
  • 92 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PYCR2 35
  • 99.58 (n)
  • 99.69 (a)
rat
(Rattus norvegicus)
Mammalia Pycr2 35
  • 87.81 (n)
  • 92.5 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves PYCR2 35
  • 78.11 (n)
  • 85.81 (a)
-- 36
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pycr1 35
  • 70.43 (n)
  • 79 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14102 35
zebrafish
(Danio rerio)
Actinopterygii pycr1b 35
  • 74.3 (n)
  • 81.48 (a)
pycr1a 36
  • 76 (a)
ManyToMany
pycr1b 36
  • 67 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5840 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M153.1 36
  • 47 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRO3 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9500 36
  • 51 (a)
OneToMany
Species with no ortholog for PYCR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PYCR2 Gene

ENSEMBL:
Gene Tree for PYCR2 (if available)
TreeFam:
Gene Tree for PYCR2 (if available)

Paralogs for PYCR2 Gene

Paralogs for PYCR2 Gene

(5) SIMAP similar genes for PYCR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PYCR2: view

Variants for PYCR2 Gene

Sequence variations from dbSNP and Humsavar for PYCR2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14868 -- 225,920,087(+) TTGCC(C/T)TGGCA utr-variant-3-prime
rs1065727 -- 225,920,091(-) GTGAT(C/G)CCAAG utr-variant-3-prime
rs3753671 -- 225,925,037(+) CGACC(A/G)GATAA upstream-variant-2KB
rs3753672 -- 225,925,088(+) TCAGG(C/T)TGGTC upstream-variant-2KB
rs10915897 -- 225,921,194(+) GTCCG(C/T)GGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PYCR2 Gene

Variant ID Type Subtype PubMed ID
nsv524126 CNV Gain 19592680
nsv873231 CNV Loss 21882294

Variation tolerance for PYCR2 Gene

Residual Variation Intolerance Score: 9.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PYCR2 Gene

HapMap Linkage Disequilibrium report
PYCR2
Human Gene Mutation Database (HGMD)
PYCR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYCR2 Gene

Disorders for PYCR2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PYCR2 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 10
  • hld10
- elite association
Search PYCR2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PYCR2

Genetic Association Database (GAD)
PYCR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PYCR2
genes like me logo Genes that share disorders with PYCR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYCR2 Gene

Publications for PYCR2 Gene

  1. The metabolism of proline as microenvironmental stress substrate. (PMID: 18806116) Phang J.M. … Liu Y. (J. Nutr. 2008) 23 67
  2. Purification, characterization, and crystallization of human pyrroline-5-carboxylate reductase. (PMID: 16600630) Meng Z. … Rao Z. (Protein Expr. Purif. 2006) 23 67
  3. Crystal structure of human pyrroline-5-carboxylate reductase. (PMID: 16730026) Meng Z. … Rao Z. (J. Mol. Biol. 2006) 23 67
  4. How many drug targets are there? (PMID: 17139284) Overington J.P. … Hopkins A.L. (Nat Rev Drug Discov 2006) 25 26
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

Products for PYCR2 Gene

Sources for PYCR2 Gene

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