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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] See more...
Aliases for PYCR2 Gene
Aliases for PYCR2 Gene
External Ids for PYCR2 Gene
- HGNC: 30262
- Entrez Gene: 29920
- Ensembl: ENSG00000143811
- OMIM: 616406
- UniProtKB: Q96C36
Previous GeneCards Identifiers for PYCR2 Gene
- GC01M223083
- GC01M222415
- GC01M224174
- GC01M226074
- GC01M196625
- GC01M226107
Summaries 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 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.
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
- HGNC(30262)
- Entrez Gene(29920)
- Ensembl(ENSG00000143811)
- OMIM(616406)
- UniProtKB(Q96C36)
- Open Targets Platform(ENSG00000143811)
- Monarch Initiative
- Search for PYCR2 at DataMed
- Search for PYCR2 at HumanCyc
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
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
Genomic Locations for PYCR2 Gene
- chr1:225,919,877-225,924,340
- (GRCh38/hg38)
- Size:
- 4,464 bases
- Orientation:
- Minus strand
- chr1:226,107,578-226,111,978
- (GRCh37/hg19)
- 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:
-
- 1q42.12 by HGNC
- 1q42.12 by Entrez Gene
- 1q42.12 by Ensembl
PYCR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for PYCR2 Gene
Selected DME Specific Peptides for PYCR2 Gene
- Q96C36:
-
- TVYATGTHA
- HSDVLFLAVKPHIIPFILDEI
- ALDALADGGVKMGLPRRLA
- LLGAAKML
- SPGGATIHALH
- LESGGFRSLLI
- LLEQLMSSVGFCTEVEEDLIDA
- TGLSGSGPAY
Post-translational modifications for PYCR2 Gene
Other Protein References for PYCR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-PYCR2 monoclonal antibody, clone 3G22
- Creative Biolabs Mouse Anti-PYCR2 Recombinant Antibody (2A5)
-
Custom Antibody ServicesOriGene Antibodies for PYCR2
- Novus Biologicals Antibodies for PYCR2
-
Abcam antibodies for PYCR2
- Invitrogen Antibodies for PYCR2 (AFLGC-Pycr2)
-
Boster Bio Antibodies for PYCR2
Protein Products
-
OriGene Purified Proteins for PYCR2
- Search Origene for MassSpec and Protein Over-expression Lysates for PYCR2
- Origene Custom Protein Services for PYCR2
- ProSpec Recombinant Proteins for PYCR2
-
Abcam proteins for PYCR2
Assay Products
-
Signalway ELISA kits for PYCR2
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
- ProtoNet:
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- Family:
-
- Belongs to the pyrroline-5-carboxylate reductase family.
Function for PYCR2 Gene
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
| 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 | -- |
Phenotypes for PYCR2 Gene
- MGI mutant phenotypes for PYCR2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PYCR2:
Animal Models for PYCR2 Gene
- MGI Knock Outs for PYCR2:
-
- Pycr2 Pycr2<tm1a(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PYCR2 - Select products 50% OFF >
- * PYCR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PYCR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PYCR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PYCR2
miRNA for PYCR2 Gene
- miRTarBase miRNAs that target PYCR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYCR2
- Browse OriGene Inhibitory RNA Products For PYCR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR2
Clone Products
- Applied Biological Materials (abm): Clones for PYCR2 - Select products 50% OFF >
- * PYCR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PYCR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PYCR2
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 3 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IDA | 23024808 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for PYCR2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Arginine and proline metabolism | ||
| 3 | Carbon metabolism | ||
| 4 | Amino acid synthesis and interconversion (transamination) | ||
| 5 | Viral mRNA Translation | ||
Pathways by source for PYCR2 Gene
3 Reactome pathways for PYCR2 Gene
3 KEGG pathways for PYCR2 Gene
UniProtKB/Swiss-Prot Q96C36-P5CR2_HUMAN
- Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.
Interacting Proteins for PYCR2 Gene
Selected Interacting proteins:
Q96C36-P5CR2_HUMAN
ENSP00000342502
for PYCR2 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for PYCR2
| 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 | -- |
No data available for SIGNOR curated interactions for PYCR2 Gene
Drugs & Compounds for PYCR2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1-Pyrroline-5-carboxylic acid |
|
2906-39-0 |
|
|||
| Hydrogen Ion |
|
|
||||
| Pyrroline hydroxycarboxylic acid |
|
22573-88-2 |
|
Transcripts for PYCR2 Gene
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 :
-
- ENST00000343818 1680 nts (view in UCSC)
- ENST00000446534 1341 nts (view in UCSC)
- ENST00000466127 506 nts (view in UCSC)
- ENST00000467298 722 nts (view in UCSC)
- ENST00000472798 422 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PYCR2 - Select products 50% OFF >
- * PYCR2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PYCR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PYCR2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PYCR2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYCR2
- Browse OriGene Inhibitory RNA Products For PYCR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR2
Clone Products
- Applied Biological Materials (abm): Clones for PYCR2 - Select products 50% OFF >
- * PYCR2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PYCR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PYCR2
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
- Eye (Sensory Organs)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYCR2
SOURCE GeneReport for Unigene cluster for PYCR2 Gene:
Hs.654718mRNA 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)
- Muscle(2)
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
Primer Products
-
OriGene qPCR primer pairs for PYCR2
-
OriGene qPCR primer pairs and template standards for PYCR2
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PYCR2 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| PYCR2 30 |
|
||||
| Cow (Bos Taurus) |
Mammalia | PYCR2 30 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Pycr2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pycr2 30 17 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| PYCR2 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pycr1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14102 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pycr1a 31 |
|
ManyToMany | |
| pycr1b 30 31 |
|
ManyToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5840 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | M153.1 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRO3 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9500 31 |
|
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
Paralogs for PYCR2 Gene
Variants for PYCR2 Gene
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 |
|---|---|---|---|---|---|
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYCR2 Gene
Disorders for PYCR2 Gene
(8) MalaCards diseases for PYCR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukodystrophy, hypomyelinating, 10 |
|
|
| primary autosomal recessive microcephaly |
|
|
| leukodystrophy |
|
|
| autosomal recessive cutis laxa type iii |
|
|
| cutis laxa, autosomal recessive, type iib |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for PYCR2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PYCR2 Gene
Publications for PYCR2 Gene
- 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
- 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
- Functional specialization in proline biosynthesis of melanoma. (PMID: 23024808) De Ingeniis J … Smith JW (PloS one 2012) 3 4
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for PYCR2 Gene
- Custom Antibody ServicesOriGene Antibodies for PYCR2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PYCR2
- Search Origene for MassSpec and Protein Over-expression Lysates for PYCR2
- Origene Custom Protein Services for PYCR2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYCR2
- Browse OriGene Inhibitory RNA Products For PYCR2
- OriGene qPCR primer pairs for PYCR2
- OriGene qPCR primer pairs and template standards for PYCR2
- OriGene CRISPR knockouts for PYCR2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PYCR2
- Sino Biological Human cDNA Clone for PYCR2
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PYCR2
- Novus Biologicals proteins and lysates for PYCR2
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- Abcam antibodies for PYCR2
- Abcam proteins for PYCR2
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- Browse Primary Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for PYCR2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PYCR2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PYCR2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PYCR2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PYCR2
- antibodies-online: Show 29 available PYCR2 Antibodies ranked by validation data
- Compare Top PYCR2 Antibodies
- antibodies-online: Search results for available PYCR2 related products ranked by validation data
- antibodies-online: Show 14 available PYCR2 Proteins ranked by validation data
- Compare Top PYCR2 Proteins
- Horizon Cell Lines for PYCR2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PYCR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PYCR2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PYCR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCR2
- Boster Bio Antibodies for PYCR2
- Browse Boster Bio ELISA Kits
Sources for PYCR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB