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 Visual Cortex Disease. Among its related pathways are Viral mRNA Translation and 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 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
- 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 , fRNAdb sequence ontologies and piRNA Summary for PYCR2 Gene
Genomics for PYCR2 Gene
GeneHancer (GH) Regulatory Elements for PYCR2 Gene
Promoters and enhancers for PYCR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PYCR2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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)
Genomic View for PYCR2 Gene
Genes around PYCR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q42.12 by Ensembl
- 1q42.12 by Entrez Gene
- 1q42.12 by HGNC
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.
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
- Ubiquitination at isoforms=116 and isoforms=307
Other Protein References for PYCR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PYCR2
-
Abcam antibodies for PYCR2
- Invitrogen Antibodies for PYCR2
- Search GeneTex for 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
- Search GeneTex for Proteins for PYCR2
-
Abcam proteins for PYCR2
Assay Products
Domains & Families for PYCR2 Gene
Gene Families for PYCR2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PYCR2 Gene
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 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 (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).
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 | EXP | 23024808 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for PYCR2 Gene
- MGI mutant phenotypes for PYCR2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PYCR2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased HPV18 LCR reporter activity
- Downregulation of Wnt pathway after Wnt3A stimulation
Animal Models for PYCR2 Gene
- MGI Knock Outs for PYCR2:
-
- Pycr2 tm1a(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PYCR2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PYCR2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PYCR2 gene
- Search ViGene Biosciences for PYCR2
CRISPR Products
-
OriGene CRISPR knockouts for PYCR2
- genomics-online: gRNA clones - Search results for available PYCR2 gene related products
- Applied Biological Materials CRISPR for PYCR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PYCR2
- GenScript: Design CRISPR guide RNA sequences for PYCR2
miRNA for PYCR2 Gene
- miRTarBase miRNAs that target PYCR2
miRNA Products
- Search ViGene Biosciences for PYCR2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PYCR2
- Browse OriGene Inhibitory RNA Products For PYCR2
- genomics-online: shRNA clones - Search results for available PYCR2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PYCR2 gene
Clone Products
- Sino Biological Human cDNA Clone for PYCR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PYCR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PYCR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PYCR2 gene related products
- orf clones - Search results for available PYCR2 gene related products
- Applied Biological Materials Clones for PYCR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PYCR2
-
ViGene Biosciences adenoviral particle packaged cDNA for PYCR2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PYCR2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PYCR2 gene
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 |
| extracellular | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 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 |
.37
|
|
| 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
IID
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006561 | proline biosynthetic process | IEA,IDA | 23024808 |
| GO:0008652 | cellular amino acid biosynthetic process | TAS,IEA | -- |
| 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 | |
|---|---|---|---|---|---|---|
| nadph |
|
53-57-6 | ||||
| 1-Pyrroline-5-carboxylic acid |
|
2906-39-0 |
|
|||
| 4-Hydroxy-L-proline |
|
30724-02-8 |
|
|||
| Hydrogen Ion |
|
|
||||
| NADP |
|
53-59-8 |
|
Transcripts for PYCR2 Gene
mRNA/cDNA for PYCR2 Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (388) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PYCR2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PYCR2
- genomics-online: gRNA clones - Search results for available PYCR2 gene related products
- Applied Biological Materials CRISPR for PYCR2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PYCR2
- GenScript: Design CRISPR guide RNA sequences for PYCR2
miRNA Products
- Search ViGene Biosciences for PYCR2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PYCR2
- Browse OriGene Inhibitory RNA Products For PYCR2
- genomics-online: shRNA clones - Search results for available PYCR2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PYCR2 gene
Clone Products
- Sino Biological Human cDNA Clone for PYCR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PYCR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PYCR2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PYCR2 gene related products
- orf clones - Search results for available PYCR2 gene related products
- Applied Biological Materials Clones for PYCR2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for PYCR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
- Bone (Muscoskeletal System)
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, MaxQB, and MOPED for PYCR2 Gene
NURSA nuclear receptor signaling pathways regulating expression of PYCR2 Gene:
PYCR2SOURCE 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
- Skin(4.3)
- Nervous system(3.9)
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
- genomics-online: primer clones - Search results for available PYCR2 gene related 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 33 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| PYCR2 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | PYCR2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pycr2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pycr2 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
| PYCR2 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pycr1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14102 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pycr1a 34 |
|
ManyToMany | |
| pycr1b 33 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5840 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | M153.1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRO3 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9500 34 |
|
OneToMany |
- Species where no ortholog for PYCR2 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for PYCR2 Gene
(5) SIMAP similar genes for PYCR2 Gene using alignment to 2 proteins:
Variants for PYCR2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs372781135 | pathogenic, Leukodystrophy, hypomyelinating, 10, Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420] | 225,922,043(-) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
| rs758595075 | pathogenic, Leukodystrophy, hypomyelinating, 10 | 225,921,590(-) | G/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs876657403 | pathogenic, Leukodystrophy, hypomyelinating, 10, Leukodystrophy, hypomyelinating, 10 (HLD10) [MIM:616420] | 225,921,254(-) | G/A | coding_sequence_variant, missense_variant | |
| rs886037931 | pathogenic, Leukodystrophy, hypomyelinating, 10 | 225,921,209(-) | G/A | coding_sequence_variant, stop_gained | |
| rs886037932 | pathogenic, Leukodystrophy, hypomyelinating, 10 | 225,921,232(-) | A/G | coding_sequence_variant, missense_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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYCR2 Gene
Disorders for PYCR2 Gene
(5) MalaCards diseases for PYCR2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leukodystrophy, hypomyelinating, 10 |
|
|
| visual cortex disease |
|
|
| visual pathway disease |
|
|
| hypomyelinating leukodystrophy |
|
|
| microcephaly |
|
|
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
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) 3 4 58
- Functional specialization in proline biosynthesis of melanoma. (PMID: 23024808) De Ingeniis J … Smith JW (PloS one 2012) 3 4 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
Products for PYCR2 Gene
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- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
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- Browse ELISAs
- Browse Activity Assays
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- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- 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
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- Browse OriGene Inhibitory RNA Products For PYCR2
- OriGene qPCR primer pairs and template standards for PYCR2
- OriGene qPCR primer pairs for PYCR2
- OriGene CRISPR knockouts for PYCR2
- OriGene ORF clones in human for PYCR2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PYCR2
- GenScript: Next-day shipping of latest version cDNA ORF clones for PYCR2 in any vector
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- GenScript Custom overexpressing Cell Line Services for PYCR2
- GenScript: Design CRISPR guide RNA sequences for PYCR2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
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- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for PYCR2
- Sino Biological Human cDNA Clone for PYCR2
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
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- Browse Sino Biological ELISA Kits
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- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for PYCR2
- Novus Biologicals lysates and proteins for PYCR2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PYCR2
- Abcam proteins for PYCR2
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
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- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for PYCR2
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for PYCR2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for PYCR2
- VectorBuilder custom plasmid, inducible vectors for PYCR2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PYCR2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 63 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: Search results for 13 available PYCR2 Proteins ranked by validation data
- Compare Top PYCR2 Proteins
- Search GeneTex for Antibodies for PYCR2
- Search GeneTex for Proteins for PYCR2
- ViGene Biosciences adenoviral particle packaged cDNA for PYCR2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for PYCR2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for PYCR2 gene
- Search ViGene Biosciences for PYCR2
- Horizon Cell Lines for PYCR2
- genomics-online: cdna clones - Search results for available PYCR2 gene related products
- orf clones - Search results for available PYCR2 gene related products
- genomics-online: gRNA clones - Search results for available PYCR2 gene related products
- genomics-online: primer clones - Search results for available PYCR2 gene related products
- genomics-online: shRNA clones - Search results for available PYCR2 gene related products
Sources for PYCR2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew