PPP1R3C
gene geneOn this page
Also known as PTG
Summary
PPP1R3C (protein phosphatase 1 regulatory subunit 3C, HGNC:9293) is a protein-coding gene on chromosome 10q23.32, encoding Protein phosphatase 1 regulatory subunit 3C (Q9UQK1). Acts as a glycogen-targeting subunit for PP1 and regulates its activity.
This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease.
Source: NCBI Gene 5507 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_005398
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9293 |
| Approved symbol | PPP1R3C |
| Name | protein phosphatase 1 regulatory subunit 3C |
| Location | 10q23.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PTG |
| Ensembl gene | ENSG00000119938 |
| Ensembl biotype | protein_coding |
| OMIM | 602999 |
| Entrez | 5507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000238994
RefSeq mRNA: 1 — MANE Select: NM_005398
NM_005398
CCDS: CCDS7416
Canonical transcript exons
ENST00000238994 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003992440 | 91632956 | 91633071 |
| ENSE00003992444 | 91628442 | 91630866 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 99.83.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.5955 / max 1085.8300, expressed in 1239 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 110638 | 28.3750 | 1239 |
| 110636 | 0.1444 | 68 |
| 110637 | 0.0762 | 34 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.83 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.75 | gold quality |
| biceps brachii | UBERON:0001507 | 99.73 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.68 | gold quality |
| triceps brachii | UBERON:0001509 | 99.64 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.59 | gold quality |
| body of tongue | UBERON:0011876 | 99.58 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.27 | gold quality |
| deltoid | UBERON:0001476 | 99.12 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.00 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.97 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.95 | gold quality |
| vena cava | UBERON:0004087 | 98.94 | gold quality |
| saphenous vein | UBERON:0007318 | 98.83 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.81 | gold quality |
| diaphragm | UBERON:0001103 | 98.78 | gold quality |
| myocardium | UBERON:0002349 | 98.73 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.73 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.71 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.71 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.24 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.22 | gold quality |
| tendon | UBERON:0000043 | 98.17 | gold quality |
| blood vessel layer | UBERON:0004797 | 97.94 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.90 | gold quality |
| popliteal artery | UBERON:0002250 | 97.76 | gold quality |
| tibial artery | UBERON:0007610 | 97.76 | gold quality |
| muscle tissue | UBERON:0002385 | 97.61 | gold quality |
| trachea | UBERON:0003126 | 97.51 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 97.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXA1, FOXA2, HIF1A
miRNA regulators (miRDB)
77 targeting PPP1R3C, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3681-5P | 99.82 | 66.88 | 387 |
| HSA-MIR-489-3P | 99.80 | 66.46 | 839 |
| HSA-MIR-4517 | 99.76 | 69.19 | 1867 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
Literature-anchored findings (GeneRIF, showing 7)
- phosphorylation of R5/PTG at Ser-8 by AMPK accelerates its laforin/malin-dependent ubiquitination and subsequent proteasomal degradation, which results in a decrease of its glycogenic activity. (PMID:19171932)
- Results demonstrated that HIF1 promotes glycogen accumulation through regulating PPP1R3C expression under hypoxia, which revealed a novel metabolic adaptation of cells to hypoxia. (PMID:20888814)
- Findings suggest that variations in PTG may condition the course of Lafora disease and establish PTG as a potential target for pharmacogenetic and therapeutic approaches. (PMID:21738631)
- detection of methylation of PPP1R3C alone or in combination with EFHD1 in plasma DNA showed high sensitivity and specificity in CRC detection, and may be useful detection method for CRC, especially for early-stage CRCs. (PMID:24861485)
- PPP1R3C, a novel hypermethylated gene in colorectal cancer, may play a critical role in cancer cell growth in association with glucose levels. (PMID:25846879)
- MiR-4461 Inhibits Tumorigenesis of Renal Cell Carcinoma by Targeting PPP1R3C. (PMID:32915648)
- AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer. (PMID:37511212)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp1r3cb | ENSDARG00000014554 |
| danio_rerio | ppp1r3ca | ENSDARG00000071005 |
| mus_musculus | Ppp1r3c | ENSMUSG00000067279 |
| rattus_norvegicus | Ppp1r3c | ENSRNOG00000018494 |
| drosophila_melanogaster | Gbs-70E | FBGN0036428 |
| caenorhabditis_elegans | WBGENE00019211 |
Paralogs (6): PPP1R3F (ENSG00000049769), PPP1R3D (ENSG00000132825), PPP1R3A (ENSG00000154415), PPP1R3B (ENSG00000173281), PPP1R3G (ENSG00000219607), PPP1R3E (ENSG00000235194)
Protein
Protein identifiers
Protein phosphatase 1 regulatory subunit 3C — Q9UQK1 (reviewed: Q9UQK1)
Alternative names: Protein phosphatase 1 regulatory subunit 5, Protein targeting to glycogen
All UniProt accessions (1): Q9UQK1
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types.
Subunit / interactions. Interacts with PPP1CC catalytic subunit of PP1 and associates with glycogen. Forms complexes with glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity. Also interacts with EPM2A/laforin.
Post-translational modifications. Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner.
Domain organisation. The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C-terminal region is required for binding to glycogen phosphorylase, glycogen synthase and phosphorylase kinase.
RefSeq proteins (1): NP_005389* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005036 | CBM21_dom | Domain |
| IPR017434 | Pase-1_reg-su_3B/C/D_met | Family |
| IPR030683 | PP1_3C | Family |
| IPR038175 | CBM21_dom_sf | Homologous_superfamily |
| IPR050782 | PP1_regulatory_subunit_3 | Family |
Pfam: PF03370
UniProt features (27 total): strand 13, mutagenesis site 4, helix 3, sequence variant 2, chain 1, domain 1, region of interest 1, turn 1, short sequence motif 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QF7 | X-RAY DIFFRACTION | 1.47 |
| 7QFA | X-RAY DIFFRACTION | 2 |
| 7QFB | X-RAY DIFFRACTION | 2.05 |
| 7QM2 | X-RAY DIFFRACTION | 2.69 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UQK1-F1 | 67.69 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 85 | no effect on interaction with epm2a; when associated with a-87. |
| 87 | no effect on interaction with epm2a; when associated with a-85. |
| 247 | no interaction with epm2a; when associated with a-250. |
| 250 | no interaction with epm2a; when associated with a-247. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-3322077 | Glycogen synthesis |
| R-HSA-3785653 | Myoclonic epilepsy of Lafora |
MSigDB gene sets: 211 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, MENSE_HYPOXIA_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MCBRYAN_PUBERTAL_TGFB1_TARGETS_DN, LEE_LIVER_CANCER_CIPROFIBRATE_DN, FOXD3_01, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, UEDA_PERIFERAL_CLOCK, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS
GO Biological Process (3): glycogen metabolic process (GO:0005977), glycogen biosynthetic process (GO:0005978), regulation of glycogen biosynthetic process (GO:0005979)
GO Molecular Function (7): protein serine/threonine phosphatase activity (GO:0004722), protein phosphatase 1 binding (GO:0008157), protein phosphatase binding (GO:0019903), protein-macromolecule adaptor activity (GO:0030674), glycogen binding (GO:2001069), protein binding (GO:0005515), molecular adaptor activity (GO:0060090)
GO Cellular Component (2): protein phosphatase type 1 complex (GO:0000164), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Glycogen metabolism | 1 |
| Glycogen storage diseases | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cytoplasm | 2 |
| energy reserve metabolic process | 1 |
| glucan metabolic process | 1 |
| glycogen metabolic process | 1 |
| glucan biosynthetic process | 1 |
| glycogen biosynthetic process | 1 |
| regulation of glucan biosynthetic process | 1 |
| regulation of glycogen metabolic process | 1 |
| phosphoprotein phosphatase activity | 1 |
| protein phosphatase binding | 1 |
| phosphatase binding | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| polysaccharide binding | 1 |
| molecular_function | 1 |
| protein serine/threonine phosphatase complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
790 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP1R3C | EPM2A | O95278 | 916 |
| PPP1R3C | GYS1 | P13807 | 885 |
| PPP1R3C | PPP1R8 | Q12972 | 848 |
| PPP1R3C | NHLRC1 | Q6VVB1 | 841 |
| PPP1R3C | NFU1 | Q9UMS0 | 765 |
| PPP1R3C | TXNL1 | O43396 | 720 |
| PPP1R3C | EPM2AIP1 | Q7L775 | 664 |
| PPP1R3C | PYGM | P11217 | 600 |
| PPP1R3C | PYGL | P06737 | 596 |
| PPP1R3C | PYGB | P11216 | 594 |
| PPP1R3C | AGL | P35573 | 547 |
| PPP1R3C | GYS2 | P54840 | 540 |
| PPP1R3C | GBE1 | Q04446 | 536 |
| PPP1R3C | GYG2 | O15488 | 532 |
| PPP1R3C | GYG1 | P46976 | 506 |
IntAct
33 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP1CB | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.780 |
| PPP1R3C | PPP1CB | psi-mi:“MI:0915”(physical association) | 0.780 |
| PPP1CA | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.740 |
| PPP1R3C | GYS1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PPP1CC | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.670 |
| EPM2A | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.570 |
| PPP1R3C | EPM2A | psi-mi:“MI:0403”(colocalization) | 0.570 |
| PPP1R3C | EPM2A | psi-mi:“MI:0915”(physical association) | 0.570 |
| LXN | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LONRF1 | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R3C | STBD1 | psi-mi:“MI:0914”(association) | 0.530 |
| PCNA | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.370 |
| SGTA | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP1R3C | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CB | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| LXN | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| LONRF1 | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| PPP1CC | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.000 |
| PPP1CA | PPP1R3C | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (56): PPP1R3C (Two-hybrid), GYS2 (Affinity Capture-MS), GYS1 (Affinity Capture-MS), STBD1 (Affinity Capture-MS), TXNRD2 (Affinity Capture-MS), LACRT (Affinity Capture-MS), GYG1 (Affinity Capture-MS), EEA1 (Affinity Capture-MS), PPP1R3D (Affinity Capture-MS), GNG5 (Affinity Capture-MS), PPP1R3C (Two-hybrid), STBD1 (Affinity Capture-MS), PPP1R3D (Affinity Capture-MS), GYS1 (Affinity Capture-MS), LACRT (Affinity Capture-MS)
ESM2 similar proteins: A6QNP3, F1QJF4, F6Y9J3, O60308, P97874, Q02395, Q08D35, Q0VCR4, Q14B46, Q28E28, Q5BL87, Q5FWH3, Q5JTW2, Q5QNQ6, Q5R7T9, Q5U2R5, Q5XGX5, Q5XIZ9, Q60695, Q60949, Q6DDQ5, Q6GL23, Q6GL65, Q6GQ68, Q6IN01, Q6P950, Q7TMB3, Q803M0, Q80T23, Q80U87, Q812E4, Q86XI6, Q8BXR9, Q8C5W4, Q8C767, Q8C7M3, Q8GT06, Q8TDW5, Q8TE85, Q8VHQ7
Diamond homologs: A6QNP3, O95685, P40036, P40187, Q00756, Q0VCR4, Q16821, Q28E28, Q5BL87, Q5U2R5, Q6DDQ5, Q6GL23, Q6GQ68, Q6IN01, Q6P950, Q7TMB3, Q803M0, Q86XI6, Q8C767, Q99MR9, Q9UQK1, Q9VVY3, T1SFR8, B7ZBB8, P0C7L8, Q8BRJ4, Q9CW07, Q9H7J1, P28006, Q06216, Q6ZSY5, Q9JIG4, P07683
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NHLRC1 | “down-regulates quantity by destabilization” | PPP1R3C | ubiquitination |
| PPP1R3C | up-regulates | GYS2 | binding |
| PPP1R3C | up-regulates | GYS1 | binding |
| PPP1R3C | up-regulates | PP1 | binding |
| AMPK | “down-regulates quantity by destabilization” | PPP1R3C | phosphorylation |
| EPM2A | “up-regulates quantity by stabilization” | PPP1R3C | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 51 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
67 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:91630862:TCATT:T | acceptor_gain | 1.0000 |
| 10:91630863:CATT:C | acceptor_gain | 1.0000 |
| 10:91630863:CATTC:C | acceptor_gain | 1.0000 |
| 10:91630865:TT:T | acceptor_gain | 1.0000 |
| 10:91630867:C:CC | acceptor_gain | 1.0000 |
| 10:91630864:ATT:A | acceptor_gain | 0.9900 |
| 10:91630872:A:AC | acceptor_gain | 0.9900 |
| 10:91630872:A:C | acceptor_gain | 0.9900 |
| 10:91630875:C:CT | acceptor_gain | 0.9900 |
| 10:91630876:A:T | acceptor_gain | 0.9900 |
| 10:91632952:CTA:C | donor_loss | 0.9900 |
| 10:91632955:C:T | donor_loss | 0.9900 |
| 10:91632954:A:AC | donor_gain | 0.9700 |
| 10:91632955:C:CC | donor_gain | 0.9700 |
| 10:91630864:ATTC:A | acceptor_gain | 0.9400 |
| 10:91630865:TTC:T | acceptor_gain | 0.9400 |
| 10:91630866:TCT:T | acceptor_gain | 0.9400 |
| 10:91630867:CTGG:C | acceptor_gain | 0.9400 |
| 10:91630868:T:G | acceptor_gain | 0.9300 |
| 10:91632952:CTACC:C | donor_gain | 0.9300 |
| 10:91632953:TACCT:T | donor_gain | 0.9300 |
| 10:91632954:ACCTG:A | donor_gain | 0.8700 |
| 10:91632955:CCTG:C | donor_gain | 0.8200 |
| 10:91630864:A:C | acceptor_gain | 0.7800 |
| 10:91632955:CC:C | donor_gain | 0.7700 |
| 10:91632900:C:A | donor_gain | 0.6600 |
| 10:91631401:T:TA | donor_gain | 0.6500 |
| 10:91631402:C:A | donor_gain | 0.6300 |
| 10:91632899:T:TA | donor_gain | 0.6300 |
| 10:91630869:G:C | acceptor_gain | 0.6100 |
AlphaMissense
2119 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:91630321:C:G | R187P | 0.999 |
| 10:91630620:A:C | F87L | 0.999 |
| 10:91630620:A:T | F87L | 0.999 |
| 10:91630622:A:G | F87L | 0.999 |
| 10:91630233:G:C | F216L | 0.998 |
| 10:91630233:G:T | F216L | 0.998 |
| 10:91630235:A:G | F216L | 0.998 |
| 10:91630304:A:G | W193R | 0.998 |
| 10:91630304:A:T | W193R | 0.998 |
| 10:91630363:A:T | V173D | 0.998 |
| 10:91630370:C:A | G171W | 0.998 |
| 10:91630411:A:T | V157D | 0.998 |
| 10:91630621:A:G | F87S | 0.998 |
| 10:91630180:A:G | F234S | 0.997 |
| 10:91630278:A:C | C201W | 0.997 |
| 10:91630302:C:A | W193C | 0.997 |
| 10:91630302:C:G | W193C | 0.997 |
| 10:91630330:A:T | V184D | 0.997 |
| 10:91630369:C:T | G171E | 0.997 |
| 10:91630467:G:C | F138L | 0.997 |
| 10:91630467:G:T | F138L | 0.997 |
| 10:91630469:A:G | F138L | 0.997 |
| 10:91630614:G:C | D89E | 0.997 |
| 10:91630614:G:T | D89E | 0.997 |
| 10:91630618:G:T | A88D | 0.997 |
| 10:91630621:A:C | F87C | 0.997 |
| 10:91630176:G:C | C235W | 0.996 |
| 10:91630227:A:C | F218L | 0.996 |
| 10:91630227:A:T | F218L | 0.996 |
| 10:91630228:A:G | F218S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000013909 (10:91633256 G>C,T), RS1000087325 (10:91633492 C>A,G,T), RS1001480145 (10:91628175 G>A), RS1002220190 (10:91634127 C>T), RS1002252752 (10:91634441 G>C), RS1003073496 (10:91629349 T>A,C), RS1003464422 (10:91630985 C>G,T), RS1003577974 (10:91628051 C>T), RS1003588476 (10:91628303 G>A), RS1003721353 (10:91634557 C>A,G), RS1003863200 (10:91633074 G>A,C,T), RS1003928317 (10:91628988 T>C), RS1004341061 (10:91633190 G>T), RS1004665904 (10:91628224 G>A), RS1005106102 (10:91630702 G>A,C,T)
Disease associations
OMIM: gene MIM:602999 | 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
0 associations (top):
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
101 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 5 |
| Benzo(a)pyrene | decreases expression, increases methylation | 4 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 4 |
| Cyclosporine | decreases expression, affects cotreatment | 4 |
| bisphenol A | affects expression, increases expression | 2 |
| trichostatin A | affects cotreatment, affects expression, affects methylation, increases expression | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| cobaltous chloride | increases expression | 2 |
| Acetaminophen | increases expression, affects cotreatment | 2 |
| Oxygen | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression, decreases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | increases expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Triclosan | decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 2 |
| tert-Butylhydroperoxide | affects expression, decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| tungsten carbide | affects binding, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| methylparaben | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| nickel chloride | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2BX | Abcam HeLa PPP1R3C KO | Cancer 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.