PPRC1
gene geneOn this page
Also known as PRCKIAA0595MGC74642
Summary
PPRC1 (PPARG related coactivator 1, HGNC:30025) is a protein-coding gene on chromosome 10q24.32, encoding Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 (Q5VV67). Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. It is a selective cancer dependency (DepMap: 48.2% of cell lines).
The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 23082 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 276 total
- Cancer dependency (DepMap): dependent in 48.2% of screened cell lines
- MANE Select transcript:
NM_015062
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30025 |
| Approved symbol | PPRC1 |
| Name | PPARG related coactivator 1 |
| Location | 10q24.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRC, KIAA0595, MGC74642 |
| Ensembl gene | ENSG00000148840 |
| Ensembl biotype | protein_coding |
| OMIM | 617462 |
| Entrez | 23082 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 16 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000278070, ENST00000370012, ENST00000413464, ENST00000462933, ENST00000489648, ENST00000495914, ENST00000878002, ENST00000878003, ENST00000878004, ENST00000878005, ENST00000878006, ENST00000930415, ENST00000930416, ENST00000930417, ENST00000930418, ENST00000930419, ENST00000930420, ENST00000930421, ENST00000930422
RefSeq mRNA: 3 — MANE Select: NM_015062
NM_001288727, NM_001288728, NM_015062
CCDS: CCDS73186, CCDS7529
Canonical transcript exons
ENST00000278070 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000933206 | 102138879 | 102138980 |
| ENSE00000987562 | 102138619 | 102138765 |
| ENSE00001100780 | 102139100 | 102142004 |
| ENSE00001100791 | 102149178 | 102149329 |
| ENSE00001100792 | 102145020 | 102145090 |
| ENSE00001100799 | 102146672 | 102147392 |
| ENSE00001695787 | 102137850 | 102138038 |
| ENSE00001813264 | 102149926 | 102150333 |
| ENSE00002322993 | 102133040 | 102133221 |
| ENSE00003487122 | 102148372 | 102148521 |
| ENSE00003495469 | 102148817 | 102148938 |
| ENSE00003610827 | 102148628 | 102148694 |
| ENSE00003622260 | 102143045 | 102143098 |
| ENSE00003679315 | 102144250 | 102144307 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 93.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0297 / max 423.3553, expressed in 1804 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106680 | 17.3708 | 1802 |
| 106682 | 0.6590 | 402 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left uterine tube | UBERON:0001303 | 93.87 | gold quality |
| oocyte | CL:0000023 | 92.50 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.34 | gold quality |
| left ovary | UBERON:0002119 | 91.33 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 91.33 | gold quality |
| right ovary | UBERON:0002118 | 91.32 | gold quality |
| omental fat pad | UBERON:0010414 | 91.19 | gold quality |
| peritoneum | UBERON:0002358 | 91.14 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.01 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.86 | gold quality |
| adenohypophysis | UBERON:0002196 | 90.55 | gold quality |
| secondary oocyte | CL:0000655 | 90.34 | gold quality |
| skin of leg | UBERON:0001511 | 90.31 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.10 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 90.05 | gold quality |
| body of pancreas | UBERON:0001150 | 90.01 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 89.93 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.82 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.69 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.64 | gold quality |
| ectocervix | UBERON:0012249 | 89.61 | gold quality |
| body of uterus | UBERON:0009853 | 89.60 | gold quality |
| body of stomach | UBERON:0001161 | 89.17 | gold quality |
| tibial nerve | UBERON:0001323 | 89.14 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 89.14 | gold quality |
| esophagus | UBERON:0001043 | 89.10 | gold quality |
| stromal cell of endometrium | CL:0002255 | 89.07 | gold quality |
| endocervix | UBERON:0000458 | 89.00 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 88.89 | gold quality |
| lower esophagus | UBERON:0013473 | 88.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.92 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF
miRNA regulators (miRDB)
20 targeting PPRC1, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
| HSA-MIR-6820-3P | 99.02 | 68.50 | 1035 |
| HSA-MIR-2117 | 98.48 | 67.97 | 1307 |
| HSA-MIR-6783-5P | 97.67 | 67.21 | 1528 |
| HSA-MIR-1306-5P | 97.11 | 64.04 | 755 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 48.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 17)
- PRC is a functional relative of PGC-1 that operates through NRF-1 and possibly other activators in response to proliferative signals (PMID:11340167)
- overexpression of the PRC pathway is responsible for mitochondrial proliferation in the context of thyroid oncocytoma (PMID:14550271)
- PGC-1 has a role in regulating gluconeogenic genes along with HNF-4alpha and SREBP-1 (PMID:14722127)
- Coordinate regulation of nucleus-encoded mitochondrial transcription factors by NRFs and PGC-1 family coactivators is essential to the control of mitochondrial biogenesis (PMID:15684387)
- This review focuses on the biologic and physiologic functions of the PGC-1 coactivators, with particular emphasis on striated muscle, liver, and other organ systems relevant to common diseases such as diabetes and heart failure. (PMID:16511594)
- Upregulation of PGC-1alpha and PGC-1beta in the colorectal tumor cells can be part of an adaptation mechanism to help overcome the severe consequences of mtDNA mutations on oxidative phosphorylation. (PMID:17341490)
- These results revealed that bile acid inhibits the promoter activity of PGC-1 in an SHP-dependent manner. (PMID:17390079)
- Activation of the SIRT1/PGC-1 pathway, in a metabolic context promotes mitochondrial function and this pathway plays a role in neurodegerative disease. Review. (PMID:17937892)
- The results are consistent with a pathway whereby PRC regulates NRF-2-dependent genes through a multiprotein complex involving HCF-1. (PMID:18343819)
- support a role for PRC in the integration of pathways directing mitochondrial respiratory function and cell growth (PMID:19036724)
- PRC has a role in the rapid modulation of metabolic functions in response to the status of the cell cycle (PMID:19956726)
- A general role for PRC in the adaptive response to cellular dysfunction. (PMID:23364789)
- PRC is a negative regulator of endothelial inflammation; it negatively regulates endothelial adhesion of monocytes via inhibition of NF kappaB activity (PMID:23954632)
- PRC and c-MYC can act in concert through Akt-GSK-3 signaling to reprogram gene expression in response to mitochondrial stress. (PMID:27789709)
- A novel PPRC1 point mutation in a Chinese family with premature ovarian failure: A case study. (PMID:33818872)
- Pan-Cancer Analysis Reveals PPRC1 as a Novel Prognostic Biomarker in Ovarian Cancer and Hepatocellular Carcinoma. (PMID:37109742)
- Blood DNA methylation and liver cancer in American Indians: evidence from the Strong Heart Study. (PMID:38010586)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pprc1 | ENSDARG00000090337 |
| danio_rerio | si:dkey-93h22.8 | ENSDARG00000098666 |
| mus_musculus | Pprc1 | ENSMUSG00000055491 |
| rattus_norvegicus | Pprc1 | ENSRNOG00000018561 |
| drosophila_melanogaster | srl | FBGN0037248 |
Paralogs (2): PPARGC1A (ENSG00000109819), PPARGC1B (ENSG00000155846)
Protein
Protein identifiers
Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 — Q5VV67 (reviewed: Q5VV67)
Alternative names: PGC-1-related coactivator
All UniProt accessions (3): Q5VV67, E7EVG6, X6R7H2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes.
Subunit / interactions. Interacts with CREB1 and NRF1.
Subcellular location. Nucleus.
Tissue specificity. Strongly expressed in heart and skeletal muscle, moderately in lung, placenta, intestine, liver, kidney, spleen, thymus, colon and brain. Also expressed in several oncocytic thyroid tumors.
Induction. Up-regulated by serum (at protein level).
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VV67-1 | 1 | yes |
| Q5VV67-2 | 2 |
RefSeq proteins (3): NP_001275656, NP_001275657, NP_055877* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR034605 | PGC-1 | Family |
| IPR034834 | PRC_RRM | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076
UniProt features (44 total): compositionally biased region 15, region of interest 12, modified residue 6, splice variant 3, sequence variant 3, sequence conflict 3, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VV67-F1 | 42.49 | 0.03 |
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 (6): 237, 536, 548, 1076, 1411, 1413
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2151201 | Transcriptional activation of mitochondrial biogenesis |
MSigDB gene sets: 186 (showing top):
AHRARNT_01, E2F_Q4_01, MAZ_Q6, NAGASHIMA_NRG1_SIGNALING_UP, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, SP1_Q2_01, WEI_MYCN_TARGETS_WITH_E_BOX, MYCMAX_01, GROSS_HYPOXIA_VIA_ELK3_UP, GROSS_HYPOXIA_VIA_HIF1A_UP, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, HIF1_Q3, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN
GO Biological Process (2): positive regulation of transcription by RNA polymerase II (GO:0045944), energy homeostasis (GO:0097009)
GO Molecular Function (5): transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), nucleic acid binding (GO:0003676), transcription coregulator activity (GO:0003712), transcription factor binding (GO:0008134)
GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial biogenesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| multicellular organismal-level homeostasis | 1 |
| transcription coregulator activity | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| transcription regulator activity | 1 |
| protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2258 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPRC1 | TFAM | Q00059 | 750 |
| PPRC1 | NRF1 | Q16656 | 578 |
| PPRC1 | PPARG | P37231 | 574 |
| PPRC1 | SLC25A3 | Q00325 | 542 |
| PPRC1 | CIAO3 | Q9H6Q4 | 519 |
| PPRC1 | S100A6 | P06703 | 507 |
| PPRC1 | SIRT1 | Q96EB6 | 462 |
| PPRC1 | PPARD | Q03181 | 461 |
| PPRC1 | HCFC1 | P51610 | 456 |
| PPRC1 | FKBP14 | Q9NWM8 | 450 |
| PPRC1 | ANKRD36 | A6QL64 | 439 |
| PPRC1 | NFE2L2 | Q16236 | 429 |
| PPRC1 | NAB1 | Q13506 | 424 |
| PPRC1 | TFB2M | Q9H5Q4 | 407 |
| PPRC1 | TFB1M | Q8WVM0 | 406 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CA10 | WDHD1 | psi-mi:“MI:0914”(association) | 0.640 |
| PIP4K2A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPC | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| ZMYND11 | PPRC1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PPRC1 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| Tubgcp6 | MRE11 | psi-mi:“MI:0914”(association) | 0.350 |
| Ncbp2 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| Ncbp2 | EFCAB5 | psi-mi:“MI:0914”(association) | 0.350 |
| NCBP2 | SEH1L | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF460 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| SRSF7 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| PPRC1 | ELOC | psi-mi:“MI:0915”(physical association) | 0.000 |
| PPRC1 | degP | psi-mi:“MI:0915”(physical association) | 0.000 |
| CLIC6 | PPRC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (28): PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Two-hybrid), PPRC1 (Affinity Capture-RNA), NRF1 (Reconstituted Complex), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS), PPRC1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0A6YY25, A6NGG8, A6X8Z5, B2RQL2, B2RXH4, D3ZMK9, D3ZUE1, E9Q7F2, O08696, O14513, P59598, P97691, Q05860, Q05AH6, Q08050, Q0GGX2, Q0VET5, Q13029, Q2M1Z3, Q3U0P1, Q571I4, Q5PSV9, Q5SSG4, Q5U2M8, Q5VV67, Q63755, Q66H04, Q68DA7, Q69ZL1, Q6DIA7, Q6JPI3, Q6P1D7, Q6PAC4, Q6PG16, Q71F56, Q76N32, Q811R2, Q86YN6, Q86YV5, Q8BJS7
Diamond homologs: O70343, Q5VV67, Q6NZN1, Q811R2, Q865B6, Q865B7, Q86YN6, Q8VHJ7, Q9QYK2, Q9UBK2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
276 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 220 |
| Likely benign | 32 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2045 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:102133305:G:GT | donor_gain | 1.0000 |
| 10:102137842:T:A | acceptor_gain | 1.0000 |
| 10:102137844:CTCCA:C | acceptor_loss | 1.0000 |
| 10:102137845:TCCA:T | acceptor_loss | 1.0000 |
| 10:102137846:CCA:C | acceptor_loss | 1.0000 |
| 10:102137847:CA:C | acceptor_loss | 1.0000 |
| 10:102137848:A:AT | acceptor_loss | 1.0000 |
| 10:102137849:G:A | acceptor_loss | 1.0000 |
| 10:102138034:GAGAG:G | donor_gain | 1.0000 |
| 10:102138036:GAG:G | donor_gain | 1.0000 |
| 10:102138039:G:GC | donor_loss | 1.0000 |
| 10:102138040:T:A | donor_loss | 1.0000 |
| 10:102138973:G:GT | donor_gain | 1.0000 |
| 10:102139095:TGCA:T | acceptor_loss | 1.0000 |
| 10:102139097:CAG:C | acceptor_loss | 1.0000 |
| 10:102139098:A:AG | acceptor_gain | 1.0000 |
| 10:102139098:A:C | acceptor_loss | 1.0000 |
| 10:102139099:G:GA | acceptor_loss | 1.0000 |
| 10:102139099:G:GG | acceptor_gain | 1.0000 |
| 10:102139099:GGTT:G | acceptor_gain | 1.0000 |
| 10:102143042:CA:C | acceptor_loss | 1.0000 |
| 10:102143043:A:AG | acceptor_gain | 1.0000 |
| 10:102143043:AGG:A | acceptor_loss | 1.0000 |
| 10:102143044:G:A | acceptor_loss | 1.0000 |
| 10:102143044:G:GG | acceptor_gain | 1.0000 |
| 10:102143044:GGA:G | acceptor_gain | 1.0000 |
| 10:102143095:GAAG:G | donor_gain | 1.0000 |
| 10:102143097:AG:A | donor_loss | 1.0000 |
| 10:102143098:GGT:G | donor_loss | 1.0000 |
| 10:102143099:GTGA:G | donor_loss | 1.0000 |
AlphaMissense
10597 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:102148824:G:C | R1542T | 1.000 |
| 10:102148824:G:T | R1542I | 1.000 |
| 10:102148825:A:C | R1542S | 1.000 |
| 10:102148825:A:T | R1542S | 1.000 |
| 10:102148827:G:T | R1543M | 1.000 |
| 10:102148828:G:C | R1543S | 1.000 |
| 10:102148828:G:T | R1543S | 1.000 |
| 10:102148833:T:A | V1545D | 1.000 |
| 10:102148835:T:A | F1546I | 1.000 |
| 10:102148835:T:C | F1546L | 1.000 |
| 10:102148836:T:C | F1546S | 1.000 |
| 10:102148837:C:A | F1546L | 1.000 |
| 10:102148837:C:G | F1546L | 1.000 |
| 10:102148839:T:A | I1547N | 1.000 |
| 10:102148841:G:A | G1548R | 1.000 |
| 10:102148841:G:C | G1548R | 1.000 |
| 10:102148842:G:A | G1548E | 1.000 |
| 10:102148842:G:T | G1548V | 1.000 |
| 10:102148848:T:A | I1550K | 1.000 |
| 10:102148848:T:C | I1550T | 1.000 |
| 10:102148848:T:G | I1550R | 1.000 |
| 10:102148875:T:A | L1559Q | 1.000 |
| 10:102148875:T:C | L1559P | 1.000 |
| 10:102148886:T:A | F1563I | 1.000 |
| 10:102148886:T:C | F1563L | 1.000 |
| 10:102148887:T:C | F1563S | 1.000 |
| 10:102148888:C:A | F1563L | 1.000 |
| 10:102148888:C:G | F1563L | 1.000 |
| 10:102148895:T:A | F1566I | 1.000 |
| 10:102148895:T:C | F1566L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000093356 (10:102143986 A>G,T), RS1000194324 (10:102150419 T>G), RS1000206814 (10:102120435 GC>G,GCC), RS1000223621 (10:102126297 G>A), RS1000266996 (10:102132124 G>A), RS1000304010 (10:102137542 C>T), RS1000435263 (10:102118944 T>C,G), RS1000526927 (10:102125025 C>T), RS1000635849 (10:102119367 T>C), RS1000782988 (10:102143034 T>C), RS1000909355 (10:102136054 G>A,C), RS1000918684 (10:102142841 C>T), RS1000993270 (10:102131355 C>T), RS1001035642 (10:102130306 G>A,T), RS1001066683 (10:102131057 T>C)
Disease associations
OMIM: gene MIM:617462 | 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 |
|---|---|---|
| GCST004630_242 | Mean corpuscular hemoglobin | 8.000000e-13 |
| GCST009391_1637 | Metabolite levels | 4.000000e-06 |
| GCST90002390_495 | Mean corpuscular hemoglobin | 7.000000e-28 |
| GCST90002390_496 | Mean corpuscular hemoglobin | 1.000000e-12 |
| GCST90002392_549 | Mean corpuscular volume | 5.000000e-15 |
| GCST90002396_494 | Mean reticulocyte volume | 4.000000e-10 |
| GCST90002397_549 | Mean spheric corpuscular volume | 9.000000e-27 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0007787 | plasma betaine measurement |
| EFO:0010701 | mean reticulocyte volume |
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
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | affects binding, increases reaction, increases expression | 4 |
| Cyclosporine | increases expression, increases methylation | 3 |
| bisphenol A | affects binding, affects folding, increases reaction, decreases reaction | 2 |
| sodium arsenite | decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Nickel | increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | increases methylation, affects expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | increases expression, affects cotreatment | 1 |
| chloropicrin | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| bisphenol S | affects binding, decreases reaction | 1 |
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.