PDP2
gene geneOn this page
Also known as KIAA1348PPM2C2PPM2B
Summary
PDP2 (pyruvate dehydrogenase phosphatase catalytic subunit 2, HGNC:30263) is a protein-coding gene on chromosome 16q22.1, encoding [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial (Q9P2J9). Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA.
This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein.
Source: NCBI Gene 57546 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_020786
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30263 |
| Approved symbol | PDP2 |
| Name | pyruvate dehydrogenase phosphatase catalytic subunit 2 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1348, PPM2C2, PPM2B |
| Ensembl gene | ENSG00000172840 |
| Ensembl biotype | protein_coding |
| OMIM | 615499 |
| Entrez | 57546 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 19 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000311765, ENST00000561475, ENST00000561704, ENST00000566543, ENST00000566776, ENST00000566805, ENST00000568398, ENST00000568720, ENST00000568869, ENST00000853885, ENST00000853886, ENST00000853887, ENST00000926811, ENST00000926812, ENST00000926813, ENST00000926814, ENST00000926815, ENST00000941564, ENST00000941565, ENST00000941566, ENST00000941567, ENST00000941568
RefSeq mRNA: 8 — MANE Select: NM_020786
NM_001329928, NM_001329929, NM_001329930, NM_001329931, NM_001329932, NM_001329933, NM_001329934, NM_020786
CCDS: CCDS10822
Canonical transcript exons
ENST00000311765 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001207017 | 66884231 | 66891101 |
| ENSE00002585390 | 66880515 | 66880640 |
Expression profiles
Bgee: expression breadth ubiquitous, 231 present calls, max score 83.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7835 / max 82.8623, expressed in 1707 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154533 | 9.7835 | 1707 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 83.81 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 80.85 | silver quality |
| calcaneal tendon | UBERON:0003701 | 80.37 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.47 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 79.18 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.51 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 78.37 | gold quality |
| ventricular zone | UBERON:0003053 | 78.35 | gold quality |
| secondary oocyte | CL:0000655 | 78.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 78.10 | gold quality |
| primary visual cortex | UBERON:0002436 | 77.58 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 77.36 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.98 | gold quality |
| embryo | UBERON:0000922 | 76.75 | gold quality |
| ganglionic eminence | UBERON:0004023 | 76.75 | gold quality |
| corpus callosum | UBERON:0002336 | 76.60 | gold quality |
| cortical plate | UBERON:0005343 | 76.57 | gold quality |
| kidney | UBERON:0002113 | 76.17 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.02 | gold quality |
| cortex of kidney | UBERON:0001225 | 76.02 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.99 | gold quality |
| adipose tissue | UBERON:0001013 | 75.62 | gold quality |
| renal medulla | UBERON:0000362 | 75.36 | gold quality |
| rectum | UBERON:0001052 | 75.32 | gold quality |
| right lobe of liver | UBERON:0001114 | 75.13 | gold quality |
| right coronary artery | UBERON:0001625 | 75.03 | gold quality |
| pancreas | UBERON:0001264 | 74.96 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 74.96 | gold quality |
| liver | UBERON:0002107 | 74.69 | gold quality |
| right lung | UBERON:0002167 | 74.67 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.14 |
| E-GEOD-99795 | no | 45.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
196 targeting PDP2, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
Literature-anchored findings (GeneRIF, showing 3)
- catalytic subunit of PDP2 crystals belonged to space group P2(1)2(1)2(1), with unit-cell parameters a = 53.6, b = 69.1, c = 109.7 A. (PMID:20208177)
- ICER was found to bind to the Pdp2 promoter and suppress its expression. Furthermore, forced expression of PDP2 in CD4(+) cells reduced the in vitro Th17 differentiation, whereas shRNA-based suppression of PDP2 expression increased in vitro Th17 differentiation (PMID:30150402)
- Autocrine phosphatase PDP2 inhibits ferroptosis by dephosphorylating ACSL4 in the Luminal A Breast Cancer. (PMID:38466744)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pdp2 | ENSDARG00000058571 |
| mus_musculus | Pdp2 | ENSMUSG00000048371 |
| rattus_norvegicus | Pdp2 | ENSRNOG00000012343 |
| drosophila_melanogaster | Pdp | FBGN0029958 |
| drosophila_melanogaster | CG10376 | FBGN0032702 |
| drosophila_melanogaster | Ppm1 | FBGN0035143 |
| drosophila_melanogaster | CG17746 | FBGN0035425 |
| drosophila_melanogaster | Nil | FBGN0039421 |
| drosophila_melanogaster | alph | FBGN0086361 |
| caenorhabditis_elegans | WBGENE00006460 | |
| caenorhabditis_elegans | WBGENE00018362 | |
| caenorhabditis_elegans | pdp-1 | WBGENE00022832 |
Paralogs (16): PPM1F (ENSG00000100034), TAB1 (ENSG00000100324), PPM1A (ENSG00000100614), PPM1H (ENSG00000111110), PPM1G (ENSG00000115241), ILKAP (ENSG00000132323), PPM1B (ENSG00000138032), PPM1J (ENSG00000155367), PPM1L (ENSG00000163590), PPM1K (ENSG00000163644), PPM1M (ENSG00000164088), PDP1 (ENSG00000164951), PPM1D (ENSG00000170836), PPM1E (ENSG00000175175), PP2D1 (ENSG00000183977), PPM1N (ENSG00000213889)
Protein
Protein identifiers
[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial — Q9P2J9 (reviewed: Q9P2J9)
Alternative names: Pyruvate dehydrogenase phosphatase catalytic subunit 2
All UniProt accessions (6): Q9P2J9, H3BQX2, H3BRB7, H3BSA5, H3BTU5, H3BV50
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial enzyme that catalyzes the dephosphorylation and concomitant reactivation of the alpha subunit of the E1 component of the pyruvate dehydrogenase complex (PDC), thereby stimulating the conversion of pyruvate into acetyl-CoA. Acts as a crucial regulator of T cell metabolism and function, with a particular focus on T-helper Th17.
Subcellular location. Mitochondrion.
Cofactor. Binds 2 magnesium ions per subunit.
Similarity. Belongs to the PP2C family.
RefSeq proteins (8): NP_001316857, NP_001316858, NP_001316859, NP_001316860, NP_001316861, NP_001316862, NP_001316863, NP_065837* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000222 | PP2C_BS | Binding_site |
| IPR001932 | PPM-type_phosphatase-like_dom | Domain |
| IPR015655 | PP2C | Family |
| IPR036457 | PPM-type-like_dom_sf | Homologous_superfamily |
Pfam: PF00481
Enzyme classification (BRENDA):
- EC 3.1.3.43 — [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase (BRENDA: 11 organisms, 19 substrates, 32 inhibitors, 15 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [PYRUVATE DEHYDROGENASE (LIPOAMIDE)]-PHOSPHATE | 0.0029–0.058 | 7 |
| P-NITROPHENYL PHOSPHATE | 29.3–55.1 | 3 |
| PEPTIDE T-1 | 0.625 | 1 |
| PEPTIDE T-2 | 0.22 | 1 |
| PEPTIDE T-3 | 0.106 | 1 |
| RRAS(P)VA | 0.053 | 1 |
| RRAT(P)VA | 0.018 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + H2O = L-seryl-[pyruvate dehydrogenase E1 alpha subunit] + phosphate (RHEA:12669)
UniProt features (8 total): binding site 5, transit peptide 1, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2J9-F1 | 81.79 | 0.63 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 141; 141; 142; 412; 508
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-204174 | Regulation of pyruvate dehydrogenase (PDH) complex |
MSigDB gene sets: 133 (showing top):
RNGTGGGC_UNKNOWN, chr16q22, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, SREBP1_02, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_CD4_POSITIVE_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_T_CELL_DIFFERENTIATION_INVOLVED_IN_IMMUNE_RESPONSE, GARY_CD5_TARGETS_DN, HIF1_Q3, GOBP_ALPHA_BETA_T_CELL_ACTIVATION
GO Biological Process (2): T-helper cell differentiation (GO:0042093), protein dephosphorylation (GO:0006470)
GO Molecular Function (6): [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity (GO:0004741), metal ion binding (GO:0046872), phosphoprotein phosphatase activity (GO:0004721), protein serine/threonine phosphatase activity (GO:0004722), hydrolase activity (GO:0016787), cation binding (GO:0043169)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Regulation of pyruvate metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| CD4-positive, alpha-beta T cell differentiation | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| protein serine/threonine phosphatase activity | 1 |
| cation binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| phosphoprotein phosphatase activity | 1 |
| catalytic activity | 1 |
| ion binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
1627 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PDP2 | PDHX | O00330 | 970 |
| PDP2 | PDHB | P11177 | 904 |
| PDP2 | DLAT | P10515 | 878 |
| PDP2 | PDHA1 | P08559 | 815 |
| PDP2 | DLD | P09622 | 714 |
| PDP2 | PDK3 | Q15120 | 712 |
| PDP2 | PDK2 | Q15119 | 706 |
| PDP2 | PDK4 | Q16654 | 692 |
| PDP2 | PDPR | Q8NCN5 | 633 |
| PDP2 | PDK1 | Q15118 | 572 |
| PDP2 | PPARGC1A | Q9UBK2 | 522 |
| PDP2 | DIRAS1 | O95057 | 480 |
| PDP2 | IDH2 | P48735 | 480 |
| PDP2 | LRCH1 | Q9Y2L9 | 477 |
| PDP2 | LIPT2 | A6NK58 | 467 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GFAP | NEFL | psi-mi:“MI:0914”(association) | 0.850 |
| NDUFS7 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| SPINK2 | STRN | psi-mi:“MI:0914”(association) | 0.530 |
| NPB | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFS7 | psi-mi:“MI:0914”(association) | 0.350 | |
| NPB | IL16 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM184A | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| ACP7 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.350 |
| NOX5 | TTC4 | psi-mi:“MI:0914”(association) | 0.350 |
| PDP2 | CLPX | psi-mi:“MI:0914”(association) | 0.350 |
| IBSP | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| SULF2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| GLIS2 | USO1 | psi-mi:“MI:0914”(association) | 0.350 |
| NOX5 | RNASEH2A | psi-mi:“MI:0914”(association) | 0.350 |
| SULF2 | CENPB | psi-mi:“MI:0914”(association) | 0.350 |
| TRMT61B | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (26): PDP2 (Affinity Capture-MS), AFG3L2 (Affinity Capture-MS), CLPX (Affinity Capture-MS), UBR2 (Affinity Capture-MS), YME1L1 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), PDP2 (Proximity Label-MS), PDP2 (Affinity Capture-MS), PDP2 (Affinity Capture-Western)
ESM2 similar proteins: A5PJZ2, O81760, O88484, P40371, P49599, Q0DBU3, Q0IIF0, Q0V7V2, Q0WRB2, Q10MN6, Q10S32, Q2QN36, Q501F9, Q504M2, Q5JJY4, Q5JKN1, Q5MFV5, Q5PNS9, Q5SGD2, Q5SMK6, Q5Z8P0, Q653S3, Q67UP9, Q69VD9, Q6ETK3, Q6NKS1, Q6YTI2, Q6ZHC8, Q7XCJ7, Q7XUC5, Q7Y138, Q84JD5, Q8BHN0, Q8H063, Q8LAY8, Q940A2, Q942P9, Q94CL8, Q94H98, Q9FKX4
Diamond homologs: A0A7U2MSD6, A0BLX0, A3A8W2, F1LNI5, G0RT93, O14189, O15355, O62830, O75688, O88483, O88484, P35815, P35816, P49595, Q09172, Q09173, Q0J2L7, Q10S32, Q3UV70, Q4R4V2, Q4WTH5, Q501F9, Q504M2, Q5JJY4, Q5MFV5, Q5PNS9, Q5RA52, Q61074, Q652Z7, Q65XG6, Q84JD5, Q8H2T0, Q940A2, Q94CL8, Q94H98, Q9FKX4, Q9LNF4, Q9LNW3, Q9LUU7, Q9P0J1
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PDP2 | down-regulates | SMAD1 | dephosphorylation |
| PDP2 | “up-regulates activity” | PDHA1 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
698 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:66885796:G:GT | donor_gain | 0.9900 |
| 16:66885806:G:T | donor_gain | 0.9900 |
| 16:66880637:GCTG:G | donor_gain | 0.9700 |
| 16:66881248:G:GT | donor_gain | 0.9400 |
| 16:66881403:TCA:T | donor_gain | 0.9400 |
| 16:66885805:GGA:G | donor_gain | 0.9300 |
| 16:66885826:G:GA | donor_gain | 0.9300 |
| 16:66885867:GGGGT:G | donor_gain | 0.9300 |
| 16:66881628:C:CG | donor_gain | 0.9000 |
| 16:66884226:TTTA:T | acceptor_loss | 0.9000 |
| 16:66884228:TAGGT:T | acceptor_loss | 0.9000 |
| 16:66884229:A:G | acceptor_loss | 0.9000 |
| 16:66884230:G:GT | acceptor_loss | 0.9000 |
| 16:66885806:G:GT | donor_gain | 0.9000 |
| 16:66881628:C:G | donor_gain | 0.8900 |
| 16:66884222:A:AG | acceptor_loss | 0.8900 |
| 16:66885729:A:AG | donor_gain | 0.8700 |
| 16:66880636:AGCTG:A | donor_loss | 0.8600 |
| 16:66880637:GCTGG:G | donor_loss | 0.8600 |
| 16:66880639:TG:T | donor_loss | 0.8600 |
| 16:66880640:GGT:G | donor_loss | 0.8600 |
| 16:66880641:GTGAG:G | donor_loss | 0.8600 |
| 16:66880642:T:G | donor_loss | 0.8600 |
| 16:66880643:GA:G | donor_loss | 0.8600 |
| 16:66880644:AGAAG:A | donor_loss | 0.8500 |
| 16:66880645:G:C | donor_loss | 0.8500 |
| 16:66885795:GGAT:G | donor_gain | 0.8500 |
| 16:66885796:G:T | donor_gain | 0.8500 |
| 16:66885856:A:G | donor_gain | 0.8500 |
| 16:66880984:C:T | donor_gain | 0.8300 |
AlphaMissense
3477 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:66885805:G:C | R507S | 0.996 |
| 16:66885805:G:T | R507S | 0.996 |
| 16:66885807:A:T | D508V | 0.995 |
| 16:66885810:A:T | D509V | 0.995 |
| 16:66885804:G:C | R507T | 0.992 |
| 16:66885807:A:C | D508A | 0.992 |
| 16:66885809:G:C | D509H | 0.992 |
| 16:66885810:A:C | D509A | 0.992 |
| 16:66885811:T:A | D509E | 0.991 |
| 16:66885811:T:G | D509E | 0.991 |
| 16:66884648:G:C | D122H | 0.990 |
| 16:66885500:T:C | F406L | 0.989 |
| 16:66885501:T:C | F406S | 0.989 |
| 16:66885502:C:A | F406L | 0.989 |
| 16:66885502:C:G | F406L | 0.989 |
| 16:66885519:A:T | D412V | 0.989 |
| 16:66885806:G:C | D508H | 0.989 |
| 16:66884649:A:C | D122A | 0.988 |
| 16:66885330:G:A | G349E | 0.988 |
| 16:66885089:G:C | A269P | 0.987 |
| 16:66885090:C:A | A269D | 0.987 |
| 16:66885138:G:T | G285V | 0.987 |
| 16:66885330:G:T | G349V | 0.987 |
| 16:66885347:T:A | W355R | 0.987 |
| 16:66885347:T:C | W355R | 0.987 |
| 16:66885446:T:G | Y388D | 0.987 |
| 16:66884997:T:C | L238P | 0.986 |
| 16:66885323:G:C | A347P | 0.986 |
| 16:66885804:G:T | R507M | 0.986 |
| 16:66885808:T:A | D508E | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000429102 (16:66882296 C>A,T), RS1000481657 (16:66882589 T>C), RS1000765762 (16:66883713 G>T), RS1000831915 (16:66891573 T>A), RS1000834913 (16:66883925 A>G), RS1000983156 (16:66883981 T>A), RS1001069878 (16:66891469 G>A), RS1001458185 (16:66884348 G>A), RS1001466115 (16:66890148 C>T), RS1001628288 (16:66883904 T>C), RS1001677229 (16:66883319 A>C,T), RS1002345302 (16:66890924 T>C), RS1002379756 (16:66891273 G>C), RS1002488152 (16:66883639 G>A,C,T), RS1003042784 (16:66887553 G>A)
Disease associations
OMIM: gene MIM:615499 | 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
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006630_74 | Diastolic blood pressure | 3.000000e-21 |
| GCST010241_219 | Apolipoprotein A1 levels | 1.000000e-09 |
| GCST010242_398 | HDL cholesterol levels | 7.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
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
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Leflunomide | decreases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| sotorasib | decreases expression, affects cotreatment | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| butylbenzyl phthalate | increases expression | 1 |
| acipimox | increases expression | 1 |
| avobenzone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Ampicillin | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TC85 | HAP1 PDP2 (-) | Cancer cell line | Male |
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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.