PYCR3
geneOn this page
Also known as FLJ13852
Summary
PYCR3 (pyrroline-5-carboxylate reductase 3, HGNC:25846) is a protein-coding gene on chromosome 8q24.3, encoding Pyrroline-5-carboxylate reductase 3 (Q53H96). Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate (P5C) to L-proline using NAD(P)H.
This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine.
Source: NCBI Gene 65263 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_023078
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25846 |
| Approved symbol | PYCR3 |
| Name | pyrroline-5-carboxylate reductase 3 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13852 |
| Ensembl gene | ENSG00000104524 |
| Ensembl biotype | protein_coding |
| OMIM | 616408 |
| Entrez | 65263 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000377579, ENST00000433751, ENST00000447926, ENST00000462036, ENST00000482616, ENST00000495276, ENST00000863892, ENST00000928173, ENST00000957034
RefSeq mRNA: 2 — MANE Select: NM_023078
NM_001329866, NM_023078
CCDS: CCDS6407, CCDS94351
Canonical transcript exons
ENST00000495276 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003541865 | 143606062 | 143606154 |
| ENSE00003595007 | 143608062 | 143608126 |
| ENSE00003628708 | 143603210 | 143605882 |
| ENSE00003673519 | 143606953 | 143607132 |
| ENSE00003731451 | 143606467 | 143606679 |
| ENSE00003744680 | 143609458 | 143609575 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 82.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3216 / max 104.2428, expressed in 1707 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 95506 | 12.2072 | 1706 |
| 95504 | 0.1144 | 54 |
Top tissues by expression
139 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 82.79 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.06 | gold quality |
| frontal cortex | UBERON:0001870 | 81.88 | gold quality |
| right lobe of liver | UBERON:0001114 | 81.10 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.09 | gold quality |
| cerebral cortex | UBERON:0000956 | 80.97 | gold quality |
| Ammon’s horn | UBERON:0001954 | 80.71 | gold quality |
| temporal lobe | UBERON:0001871 | 80.48 | gold quality |
| amygdala | UBERON:0001876 | 80.32 | gold quality |
| right uterine tube | UBERON:0001302 | 80.23 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.11 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.82 | gold quality |
| telencephalon | UBERON:0001893 | 79.73 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 79.30 | gold quality |
| nucleus accumbens | UBERON:0001882 | 78.97 | gold quality |
| adenohypophysis | UBERON:0002196 | 78.86 | gold quality |
| pituitary gland | UBERON:0000007 | 78.69 | gold quality |
| right adrenal gland | UBERON:0001233 | 78.41 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 78.20 | gold quality |
| left adrenal gland | UBERON:0001234 | 78.15 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 78.07 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 78.03 | gold quality |
| putamen | UBERON:0001874 | 78.02 | gold quality |
| brain | UBERON:0000955 | 77.99 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 77.67 | gold quality |
| caudate nucleus | UBERON:0001873 | 77.66 | gold quality |
| hypothalamus | UBERON:0001898 | 77.18 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 77.11 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 76.93 | gold quality |
| liver | UBERON:0002107 | 76.90 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.88 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting PYCR3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-30B-3P | 99.70 | 65.76 | 2325 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-6779-5P | 99.70 | 65.76 | 2363 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
Literature-anchored findings (GeneRIF, showing 1)
- PYCR3 modulates mtDNA copy number to drive proliferation and doxorubicin resistance in triple-negative breast cancer. (PMID:38642827)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pycr3 | ENSDARG00000015236 |
| mus_musculus | Pycr3 | ENSMUSG00000022571 |
Paralogs (3): PYCR2 (ENSG00000143811), NOXRED1 (ENSG00000165555), PYCR1 (ENSG00000183010)
Protein
Protein identifiers
Pyrroline-5-carboxylate reductase 3 — Q53H96 (reviewed: Q53H96)
Alternative names: Pyrroline-5-carboxylate reductase-like protein
All UniProt accessions (4): A0A087WTU2, B5MD87, Q53H96, F8WEI0
UniProt curated annotations — full annotation on UniProt →
Function. Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate (P5C) to L-proline using NAD(P)H. Proline is synthesized from either glutamate or ornithine; both are converted to P5C, and then to proline via pyrroline-5-carboxylate reductases (PYCRs). PYCR3 is exclusively linked to the biosynthesis of proline from ornithine.
Subunit / interactions. Homodecamer; composed of 5 homodimers.
Subcellular location. Cytoplasm.
Activity regulation. Competitive inhibition by proline analog N-formyl-L-proline. Weakly inhibited by proline.
Pathway. Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.
Similarity. Belongs to the pyrroline-5-carboxylate reductase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q53H96-1 | 1 | yes |
| Q53H96-2 | 2 |
RefSeq proteins (2): NP_001316795, NP_075566* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000304 | Pyrroline-COOH_reductase | Family |
| IPR008927 | 6-PGluconate_DH-like_C_sf | Homologous_superfamily |
| IPR028939 | P5C_Rdtase_cat_N | Domain |
| IPR029036 | P5CR_dimer | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR053790 | P5CR-like_CS | Conserved_site |
Pfam: PF03807, PF14748
Catalyzed reactions (Rhea), 2 shown:
- L-proline + NAD(+) = (S)-1-pyrroline-5-carboxylate + NADH + 2 H(+) (RHEA:14105)
- L-proline + NADP(+) = (S)-1-pyrroline-5-carboxylate + NADPH + 2 H(+) (RHEA:14109)
UniProt features (7 total): sequence variant 3, initiator methionine 1, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53H96-F1 | 94.84 | 0.93 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8964539 | Glutamate and glutamine metabolism |
MSigDB gene sets: 114 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, ELVIDGE_HYPOXIA_DN, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_255, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, MODULE_317, GOBP_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, SMID_BREAST_CANCER_LUMINAL_B_UP, LIAO_METASTASIS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, FISCHER_DREAM_TARGETS
GO Biological Process (3): L-proline biosynthetic process (GO:0055129), obsolete proline biosynthetic process (GO:0006561), amino acid biosynthetic process (GO:0008652)
GO Molecular Function (4): pyrroline-5-carboxylate reductase activity (GO:0004735), identical protein binding (GO:0042802), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (4): cytosol (GO:0005829), intercellular bridge (GO:0045171), mitotic spindle (GO:0072686), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| L-proline metabolic process | 1 |
| glutamate family amino acid biosynthetic process | 1 |
| amino acid metabolic process | 1 |
| biosynthetic process | 1 |
| oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor | 1 |
| protein binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| spindle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1134 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PYCR3 | ALDH18A1 | P54886 | 775 |
| PYCR3 | PRODH | O43272 | 692 |
| PYCR3 | OAT | P04181 | 679 |
| PYCR3 | ALDH4A1 | P30038 | 674 |
| PYCR3 | PRODH | O43272 | 661 |
| PYCR3 | TIGD5 | Q53EQ6 | 608 |
| PYCR3 | COMMD5 | Q9GZQ3 | 559 |
| PYCR3 | L3HYPDH | Q96EM0 | 528 |
| PYCR3 | ASS1 | P00966 | 497 |
| PYCR3 | OSBPL7 | Q9BZF2 | 459 |
| PYCR3 | NRBP2 | Q9NSY0 | 459 |
| PYCR3 | NOXRED1 | Q6NXP6 | 450 |
| PYCR3 | MRPL55 | Q7Z7F7 | 447 |
| PYCR3 | POP1 | Q99575 | 447 |
| PYCR3 | PSPH | P78330 | 422 |
IntAct
71 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDCBP | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PYCR3 | SDCBP | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PYCR3 | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG4 | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSMB1 | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDKN2B | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| PYCR1 | PYCR3 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PYCR3 | RPL23 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNG1 | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PYCR3 | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PYCR3 | FXR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PYCR3 | FXR2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PYCR3 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LBP | PYCR3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PYCR3 | PRMT6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Tp53bp1 | WBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| TBC1D22B | MAD2L1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| PCMT1 | YDJC | psi-mi:“MI:0914”(association) | 0.350 |
| PYCR2 | MYO1F | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (137): PYCRL (Affinity Capture-MS), PYCRL (Two-hybrid), PYCRL (Two-hybrid), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), GPD1L (Co-fractionation), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), PYCRL (Affinity Capture-MS), PYCRL (Two-hybrid), PYCRL (Affinity Capture-MS)
ESM2 similar proteins: A0KF08, A1L2Q8, A4ST20, A4W537, A8ARJ5, B0TLE9, B1KQ10, B4RQK9, B7GU03, B8J2B6, C1F6U2, E9AD19, O04016, O48881, P0A9L8, P0A9L9, P0C1E4, P0C1E5, P17817, P32263, P32322, P54904, P74572, Q04708, Q0QLF5, Q0SYD4, Q17QJ7, Q1DCL2, Q1GZ87, Q20848, Q3IIE0, Q4R531, Q4R6W7, Q53H96, Q58D08, Q58DT4, Q5PQJ6, Q5QZB8, Q5R9X6, Q5RAQ3
Diamond homologs: A0A348AXY1, A0A411KUQ8, A1L2Q8, E0TY11, O04016, P0CI77, P17817, P54552, P54893, P54904, P74572, Q04708, Q12641, Q12740, Q20848, Q4R531, Q53H96, Q58D08, Q5PQJ6, Q5RAQ3, Q5SPD7, Q96C36, Q9DCC4, Q9HH99, Q9P7Y7, P0A9L8, P0A9L9, P0C1E4, P0C1E5, P22008, P27771, P32263, P32322, P46725, P52053, P9WHU6, P9WHU7, Q17QJ7, Q4R6W7, Q58DT4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 66 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1300 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:143605702:A:AC | donor_gain | 1.0000 |
| 8:143605703:C:CC | donor_gain | 1.0000 |
| 8:143606162:C:CT | acceptor_gain | 1.0000 |
| 8:143606165:G:T | acceptor_gain | 1.0000 |
| 8:143606459:ATACT:A | donor_loss | 1.0000 |
| 8:143606463:TCACG:T | donor_loss | 1.0000 |
| 8:143606464:CA:C | donor_loss | 1.0000 |
| 8:143606465:A:AC | donor_gain | 1.0000 |
| 8:143606465:AC:A | donor_loss | 1.0000 |
| 8:143606466:C:CG | donor_gain | 1.0000 |
| 8:143606466:CG:C | donor_gain | 1.0000 |
| 8:143606466:CGA:C | donor_gain | 1.0000 |
| 8:143606466:CGAA:C | donor_gain | 1.0000 |
| 8:143606685:C:CT | acceptor_gain | 1.0000 |
| 8:143606948:CTCA:C | donor_loss | 1.0000 |
| 8:143606949:TCAC:T | donor_loss | 1.0000 |
| 8:143606950:CAC:C | donor_loss | 1.0000 |
| 8:143606951:A:AC | donor_gain | 1.0000 |
| 8:143606951:A:AT | donor_loss | 1.0000 |
| 8:143606951:ACCT:A | donor_gain | 1.0000 |
| 8:143606952:C:CC | donor_gain | 1.0000 |
| 8:143606952:CCT:C | donor_gain | 1.0000 |
| 8:143606952:CCTC:C | donor_gain | 1.0000 |
| 8:143608060:A:AC | donor_gain | 1.0000 |
| 8:143608061:C:CC | donor_gain | 1.0000 |
| 8:143608075:AGGTT:A | donor_gain | 1.0000 |
| 8:143608079:T:TA | donor_gain | 1.0000 |
| 8:143605703:CTTT:C | donor_gain | 0.9900 |
| 8:143605880:CCC:C | acceptor_gain | 0.9900 |
| 8:143605881:CC:C | acceptor_gain | 0.9900 |
AlphaMissense
1743 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:143606638:G:C | N126K | 0.983 |
| 8:143606638:G:T | N126K | 0.983 |
| 8:143608095:A:C | S41R | 0.980 |
| 8:143608095:A:T | S41R | 0.980 |
| 8:143608097:T:G | S41R | 0.980 |
| 8:143606485:A:C | S177R | 0.977 |
| 8:143606485:A:T | S177R | 0.977 |
| 8:143606487:T:G | S177R | 0.977 |
| 8:143609511:A:G | F13S | 0.975 |
| 8:143606467:G:C | F183L | 0.974 |
| 8:143606467:G:T | F183L | 0.974 |
| 8:143606469:A:G | F183L | 0.974 |
| 8:143606479:A:C | S179R | 0.974 |
| 8:143606479:A:T | S179R | 0.974 |
| 8:143606481:T:G | S179R | 0.974 |
| 8:143606631:A:G | C129R | 0.973 |
| 8:143606616:C:A | G134W | 0.970 |
| 8:143605876:C:G | A217P | 0.969 |
| 8:143609510:G:C | F13L | 0.969 |
| 8:143609510:G:T | F13L | 0.969 |
| 8:143609512:A:G | F13L | 0.969 |
| 8:143605875:G:T | A217D | 0.968 |
| 8:143608099:G:T | A40D | 0.968 |
| 8:143609505:C:T | G15D | 0.968 |
| 8:143605747:C:G | A260P | 0.965 |
| 8:143607123:A:G | C56R | 0.964 |
| 8:143605746:G:T | A260D | 0.963 |
| 8:143608105:A:T | I38K | 0.963 |
| 8:143605791:A:G | L245P | 0.959 |
| 8:143606090:G:T | A205D | 0.958 |
dbSNP variants (sampled 300 via entrez): RS1001161514 (8:143607879 C>T), RS1001480199 (8:143609695 C>A,T), RS1001884430 (8:143602770 C>A,G,T), RS1001931431 (8:143607745 G>A,C), RS1002284891 (8:143604774 C>T), RS1002498650 (8:143611267 G>A), RS1003092965 (8:143610415 C>A,T), RS1003296117 (8:143606321 C>T), RS1003569404 (8:143602773 C>T), RS1003957624 (8:143608163 G>T), RS1004161478 (8:143603489 G>GTGGC), RS1004517533 (8:143603439 G>A), RS1004733080 (8:143603698 A>T), RS1005422711 (8:143610950 G>A), RS1006426829 (8:143604514 C>G,T)
Disease associations
OMIM: gene MIM:616408 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001966_2 | Rhegmatogenous retinal detachment | 3.000000e-06 |
| GCST004621_125 | Red cell distribution width | 1.000000e-11 |
| GCST008459_52 | Schizophrenia | 4.000000e-08 |
| GCST008459_53 | Schizophrenia | 1.000000e-09 |
| GCST012020_17 | Serum metabolite levels | 5.000000e-144 |
| GCST90002391_195 | Mean corpuscular hemoglobin concentration | 6.000000e-09 |
| GCST90002404_104 | Red cell distribution width | 7.000000e-40 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, affects expression, decreases expression | 4 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| Esketamine | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| cylindrospermopsin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases response to substance, decreases expression | 1 |
| NSC 689534 | decreases expression, affects binding | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases abundance, affects cotreatment, decreases expression | 1 |
| Copper | decreases expression, affects binding | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Estradiol | increases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, affects cotreatment, decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9Q7 | Ubigene HEK293 PYCR3 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): rhegmatogenous retinal detachment