PYCR2 Gene (Protein Coding)

Pyrroline-5-Carboxylate Reductase 2

GC01M225919
GIFtS:
45
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] See more...

Aliases for PYCR2 Gene

Aliases for PYCR2 Gene

  • Pyrroline-5-Carboxylate Reductase 2 2 3 4 5
  • Pyrroline-5-Carboxylate Reductase Family Member 2 2 3
  • P5C Reductase 2 3 4
  • EC 1.5.1.2 4 50
  • P5CR2 2 3
  • P5CR 2 4
  • HLD10 3
  • PYCR2 5

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 2) is a Protein Coding gene. Diseases associated with PYCR2 include Leukodystrophy, Hypomyelinating, 10 and Primary Autosomal Recessive Microcephaly. Among its related pathways are Carbon metabolism and Amino acid synthesis and interconversion (transamination). 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.

UniProtKB/Swiss-Prot Summary 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 (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).

Additional gene information for PYCR2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYCR2 Gene

Genomics for PYCR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PYCR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYCR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PYCR2

Top Transcription factor binding sites by QIAGEN in the PYCR2 gene promoter:
  • AP-2gamma
  • E47
  • Elk-1
  • Hand1
  • NF-kappaB
  • NF-kappaB1
  • Pax-3
  • Pax-5
  • RelA
  • Roaz

Genomic Locations for PYCR2 Gene

Latest Assembly
chr1:225,919,877-225,924,340
(GRCh38/hg38)
Size:
4,464 bases
Orientation:
Minus strand

Previous Assembly
chr1:226,107,578-226,111,950
(GRCh37/hg19 by Entrez Gene)
Size:
4,373 bases
Orientation:
Minus strand

chr1:226,107,578-226,111,978
(GRCh37/hg19 by Ensembl)
Size:
4,401 bases
Orientation:
Minus strand

Genomic View for PYCR2 Gene

Genes around PYCR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYCR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYCR2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PYCR2 Gene

Proteins for PYCR2 Gene

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  3. Assay products for research

  • 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 (Probable). Interacts with LTO1 (PubMed:24930674).

    Three dimensional structures from OCA and Proteopedia for PYCR2 Gene

neXtProt entry for PYCR2 Gene

Protein Expression for PYCR2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PYCR2 Gene

Q96C36:
  • TVYATGTHA
  • HSDVLFLAVKPHIIPFILDEI
  • ALDALADGGVKMGLPRRLA
  • LLGAAKML
  • SPGGATIHALH
  • LESGGFRSLLI
  • LLEQLMSSVGFCTEVEEDLIDA
  • TGLSGSGPAY

Post-translational modifications for PYCR2 Gene

  • Ubiquitination at Lys116 and Lys307
  • Modification sites at PhosphoSitePlus

Other Protein References for PYCR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PYCR2 Gene

Gene Families for PYCR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PYCR2 Gene

InterPro:
Blocks:
  • Delta 1-pyrroline-5-carboxylate reductase

Suggested Antigen Peptide Sequences for PYCR2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ10646 fis, clone NT2RP2005773, highly similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2) (B3KMB7_HUMAN)
  • Pyrroline-5-carboxylate reductase (E7EUS9_HUMAN)
  • Pyrroline-5-carboxylate reductase 2 (P5CR2_HUMAN)
  • Pyrroline-5-carboxylate reductase (Q4W8W1_HUMAN)
  • Pyrroline-5-carboxylate reductase family, member 2 (Q5TE90_HUMAN)

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

Function for PYCR2 Gene

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  6. Cell Lines for research

Molecular function for PYCR2 Gene

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 (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-proline + NADP(+) = 1-pyrroline-5-carboxylate + 2 H(+) + NADPH; Xref=Rhea:RHEA:14109, ChEBI:CHEBI:15378, ChEBI:CHEBI:15893, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:60039; EC=1.5.1.2; Evidence={ECO:0000269|PubMed:2722838, ECO:0000269|PubMed:6894153};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-proline + NAD(+) = 1-pyrroline-5-carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:14105, ChEBI:CHEBI:15378, ChEBI:CHEBI:15893, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:60039; EC=1.5.1.2; Evidence={ECO:0000269|PubMed:2722838, ECO:0000269|PubMed:6894153};.
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 EnzymeRegulation:
Subject to competitive inhibition by NADP. Not inhibited by proline.

Enzyme Numbers (IUBMB) for PYCR2 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0005515 protein binding IPI 24930674
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with PYCR2: view
genes like me logo Genes that share phenotypes with PYCR2: view

Human Phenotype Ontology for PYCR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PYCR2 Gene

MGI Knock Outs for PYCR2:
  • Pycr2 Pycr2<tm1.1Brre>
  • Pycr2 Pycr2<tm1a(EUCOMM)Wtsi>
  • Pycr2 Pycr2<tm2Brre>

Animal Models for research

miRNA for PYCR2 Gene

miRTarBase miRNAs that target PYCR2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR2

No data available for Transcription Factor Targets and HOMER Transcription for PYCR2 Gene

Localization for PYCR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYCR2 Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYCR2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PYCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA 23024808
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 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 IBA,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

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(6) Drugs for PYCR2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
NADPH Experimental Pharma 0
hydroxyproline Experimental Pharma 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0

(4) Additional Compounds for PYCR2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Pyrroline-5-carboxylic acid
  • 3,4-Dihydro-2H-pyrrole-2-carboxylate
  • Delta(1)-Pyrroline-5-carboxylic acid
  • 3,4-Dihydro-2H-pyrrole-2-carboxylic acid
  • delta(1)-Pyrroline-5-carboxylate
  • Δ(1)-pyrroline-5-carboxylate
 2906-39-0
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
Pyrroline hydroxycarboxylic acid
  • Pyrroline hydroxycarboxylate
  • 3-Hydroxy-L-1-pyrroline-5-carboxylate
  • L-1-Pyrroline 3-hydroxy-5-carboxylate
  • L-1-Pyrroline-3-hydroxy-5-carboxylate
  • L-Delta1-Pyrroline 3-hydroxy-5-carboxylate
 22573-88-2
genes like me logo Genes that share compounds with PYCR2: view

Transcripts for PYCR2 Gene

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mRNA/cDNA for PYCR2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR2

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

Expression for PYCR2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PYCR2 Gene

mRNA expression in normal human tissues for PYCR2 Gene
mRNA expression by BioGPS for PYCR2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for PYCR2 Gene



Protein tissue co-expression partners for PYCR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYCR2

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) (PubMed:2722838, PubMed:6894153). Expressed in fetal brain (PubMed:25865492).

Evidence on tissue expression from TISSUES for PYCR2 Gene

  • Blood(4.4)
  • Skin(4.4)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PYCR2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
  • skull
Thorax:
  • chest wall
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PYCR2: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia PYCR2 29
  • 99.58 (n)
Dog
(Canis familiaris)
 Mammalia -- 30
  • 94 (a)
 OneToMany
PYCR2 29
  • 89.27 (n)
Cow
(Bos Taurus)
 Mammalia PYCR2 29 30
  • 90.94 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Pycr2 29
  • 87.81 (n)
Mouse
(Mus musculus)
 Mammalia Pycr2 29 16 30
  • 87.6 (n)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 87 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 68 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves -- 30
  • 82 (a)
 OneToMany
PYCR2 29
  • 78.11 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 82 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pycr1 29
  • 70.43 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14102 29
Zebrafish
(Danio rerio)
 Actinopterygii pycr1a 30
  • 76 (a)
 ManyToMany
pycr1b 29 30
  • 74.3 (n)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5840 30
  • 41 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea M153.1 30
  • 47 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PRO3 30
  • 28 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9500 30
  • 51 (a)
 OneToMany
Species where no ortholog for PYCR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PYCR2: view image
Alliance of Genome Resources:
Additional Orthologs for PYCR2

Paralogs for PYCR2 Gene

Paralogs for PYCR2 Gene

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

  • P5CR2_HUMAN
  • B3KMB7_HUMAN
genes like me logo Genes that share paralogs with PYCR2: view

Variants for PYCR2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PYCR2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1031778 Uncertain Significance: Leukodystrophy, hypomyelinating, 10 225,924,038(-) G/T
NM_013328.4(PYCR2):c.67+6C>A 		INTRON
1032574 Pathogenic: Leukodystrophy, hypomyelinating, 10 225,921,329(-) G/A
NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter) 		NONSENSE
1032575 Uncertain Significance: Leukodystrophy, hypomyelinating, 10 225,921,327(-) C/A
NM_013328.4(PYCR2):c.678G>T (p.Gln226His) 		MISSENSE
813548 Uncertain Significance: Microcephaly 225,921,961(-) C/T
NM_013328.4(PYCR2):c.437G>A (p.Gly146Glu) 		MISSENSE_VARIANT,INTRON
929953 Likely Pathogenic: Leukodystrophy, hypomyelinating, 10 225,921,994(-) TAC/T
NM_013328.4(PYCR2):c.402_403del (p.Tyr135fs) 		FRAMESHIFT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PYCR2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2762223 CNV gain 21179565
nsv524126 CNV gain 19592680
nsv549267 CNV loss 21841781

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)

Additional Variant Information for PYCR2 Gene

Human Gene Mutation Database (HGMD)
PYCR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYCR2
Leiden Open Variation Database (LOVD)
PYCR2

SNP Genotyping and Copy Number Assays for research

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

Disorders for PYCR2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PYCR2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search PYCR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

P5CR2_HUMAN
  • Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420]: An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume. {ECO:0000269 PubMed:25865492}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PYCR2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PYCR2: view

No data available for Genatlas for PYCR2 Gene

Publications for PYCR2 Gene

  1. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. (PMID: 25865492) Nakayama T … Mochida GH (American journal of human genetics 2015) 2 3 4 72
  2. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. (PMID: 27130255) Zaki MS … Gleeson JG (Annals of neurology 2016) 3 72
  3. Frequent amplification of ORAOV1 gene in esophageal squamous cell cancer promotes an aggressive phenotype via proline metabolism and ROS production. (PMID: 24930674) Togashi Y … Nishio K (Oncotarget 2014) 3 4
  4. Functional specialization in proline biosynthesis of melanoma. (PMID: 23024808) De Ingeniis J … Smith JW (PloS one 2012) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

ExternalLinks

View latest publications for PYCR2 gene in Mastermind

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