PPP6R2
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Also known as dJ579N16.1SAP190
Summary
PPP6R2 (protein phosphatase 6 regulatory subunit 2, HGNC:19253) is a protein-coding gene on chromosome 22q13.33, encoding Serine/threonine-protein phosphatase 6 regulatory subunit 2 (O75170). Regulatory subunit of protein phosphatase 6 (PP6).
The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment.
Source: NCBI Gene 9701 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 194 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001242898
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19253 |
| Approved symbol | PPP6R2 |
| Name | protein phosphatase 6 regulatory subunit 2 |
| Location | 22q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ579N16.1, SAP190 |
| Ensembl gene | ENSG00000100239 |
| Ensembl biotype | protein_coding |
| OMIM | 610877 |
| Entrez | 9701 |
Gene structure
Transcript identifiers
Ensembl transcripts: 86 — 84 protein_coding, 2 retained_intron
ENST00000216061, ENST00000359139, ENST00000395741, ENST00000395744, ENST00000401672, ENST00000427222, ENST00000470046, ENST00000473283, ENST00000612753, ENST00000906613, ENST00000906614, ENST00000906615, ENST00000906616, ENST00000906617, ENST00000906618, ENST00000906619, ENST00000906620, ENST00000906621, ENST00000906622, ENST00000906623, ENST00000906624, ENST00000906625, ENST00000906626, ENST00000906627, ENST00000906628, ENST00000906629, ENST00000906630, ENST00000906631, ENST00000906632, ENST00000906633, ENST00000906634, ENST00000906635, ENST00000906636, ENST00000906637, ENST00000906638, ENST00000906639, ENST00000906640, ENST00000906641, ENST00000906642, ENST00000906643, ENST00000906644, ENST00000906645, ENST00000906646, ENST00000906647, ENST00000906648, ENST00000906649, ENST00000906650, ENST00000906651, ENST00000906652, ENST00000906653, ENST00000906654, ENST00000938136, ENST00000938137, ENST00000938138, ENST00000938139, ENST00000938140, ENST00000938141, ENST00000938142, ENST00000966964, ENST00000966965, ENST00000966966, ENST00000966967, ENST00000966968, ENST00000966969, ENST00000966970, ENST00000966971, ENST00000966972, ENST00000966973, ENST00000966974, ENST00000966975, ENST00000966976, ENST00000966977, ENST00000966978, ENST00000966979, ENST00000966980, ENST00000966981, ENST00000966982, ENST00000966983, ENST00000966984, ENST00000966985, ENST00000966986, ENST00000966987, ENST00000966988, ENST00000966989, ENST00000966990, ENST00000966991
RefSeq mRNA: 13 — MANE Select: NM_001242898
NM_001242898, NM_001242899, NM_001242900, NM_001351641, NM_001351642, NM_001351643, NM_001351644, NM_001351645, NM_001351646, NM_001351647, NM_001351648, NM_001365836, NM_014678
CCDS: CCDS33681, CCDS56235, CCDS56236, CCDS74881, CCDS93184
Canonical transcript exons
ENST00000612753 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001363026 | 50372020 | 50372150 |
| ENSE00003743564 | 50343327 | 50343550 |
| ENSE00003754055 | 50444199 | 50445090 |
| ENSE00003888750 | 50440822 | 50441026 |
| ENSE00003888759 | 50439701 | 50439857 |
| ENSE00003889134 | 50406689 | 50406875 |
| ENSE00003889498 | 50434966 | 50435081 |
| ENSE00003890531 | 50422254 | 50422380 |
| ENSE00003890758 | 50419349 | 50419462 |
| ENSE00003891344 | 50438599 | 50438762 |
| ENSE00003891518 | 50416092 | 50416157 |
| ENSE00003892246 | 50431173 | 50431382 |
| ENSE00003892815 | 50423462 | 50423614 |
| ENSE00003893045 | 50432265 | 50432329 |
| ENSE00003893216 | 50439961 | 50440049 |
| ENSE00003893354 | 50436988 | 50437068 |
| ENSE00003893516 | 50393893 | 50394135 |
| ENSE00003893642 | 50436367 | 50436452 |
| ENSE00003895035 | 50437506 | 50437603 |
| ENSE00003895163 | 50438174 | 50438298 |
| ENSE00003895170 | 50418867 | 50418979 |
| ENSE00003895249 | 50414552 | 50414689 |
| ENSE00003895359 | 50443866 | 50444117 |
| ENSE00003896029 | 50437843 | 50437900 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 97.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.4414 / max 238.3430, expressed in 1820 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192991 | 32.8926 | 1820 |
| 192992 | 2.4786 | 1410 |
| 192993 | 0.0701 | 23 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.37 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.06 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.95 | gold quality |
| left testis | UBERON:0004533 | 96.75 | gold quality |
| right testis | UBERON:0004534 | 96.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.65 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.64 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.91 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.81 | gold quality |
| cerebellum | UBERON:0002037 | 95.51 | gold quality |
| apex of heart | UBERON:0002098 | 95.48 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.47 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.28 | gold quality |
| pituitary gland | UBERON:0000007 | 95.26 | gold quality |
| body of stomach | UBERON:0001161 | 95.02 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.85 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.85 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.66 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.63 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.59 | gold quality |
| right uterine tube | UBERON:0001302 | 94.57 | gold quality |
| right ovary | UBERON:0002118 | 94.57 | gold quality |
| endocervix | UBERON:0000458 | 94.49 | gold quality |
| body of uterus | UBERON:0009853 | 94.46 | gold quality |
| granulocyte | CL:0000094 | 94.42 | gold quality |
| thyroid gland | UBERON:0002046 | 94.35 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.21 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.83 |
| E-MTAB-6058 | no | 175.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting PPP6R2, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-6803-5P | 99.19 | 63.90 | 1026 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp6r2a | ENSDARG00000045540 |
| danio_rerio | ppp6r2b | ENSDARG00000069654 |
| mus_musculus | Ppp6r2 | ENSMUSG00000036561 |
| rattus_norvegicus | Ppp6r2 | ENSRNOG00000026425 |
| drosophila_melanogaster | fmt | FBGN0035688 |
| caenorhabditis_elegans | WBGENE00008166 |
Paralogs (2): PPP6R1 (ENSG00000105063), PPP6R3 (ENSG00000110075)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 6 regulatory subunit 2 — O75170 (reviewed: O75170)
Alternative names: SAPS domain family member 2
All UniProt accessions (3): O75170, A0A0A0MSJ8, T1ECW5
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF.
Subunit / interactions. Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitously expressed with strongest expression in the testis followed by liver, heart, kidney, brain and placenta.
Similarity. Belongs to the SAPS family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75170-1 | 1 | yes |
| O75170-2 | 2 | |
| O75170-3 | 3 | |
| O75170-4 | 4 | |
| O75170-5 | 5 | |
| O75170-6 | 6 |
RefSeq proteins (13): NP_001229827, NP_001229828, NP_001229829, NP_001338570, NP_001338571, NP_001338572, NP_001338573, NP_001338574, NP_001338575, NP_001338576, NP_001338577, NP_001352765, NP_055493 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007587 | SAPS | Family |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
Pfam: PF04499
UniProt features (20 total): splice variant 6, region of interest 3, sequence conflict 3, modified residue 3, sequence variant 2, compositionally biased region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75170-F1 | 66.00 | 0.42 |
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 (3): 289, 771, 828
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 136 (showing top):
ACTACCT_MIR196A_MIR196B, TGCACTT_MIR519C_MIR519B_MIR519A, BROWNE_HCMV_INFECTION_48HR_DN, ROZANOV_MMP14_TARGETS_UP, MORF_EPHA7, MORF_BMPR2, MODULE_11, MODULE_60, TGCCTTA_MIR124A, MODULE_38, AP2_Q6_01, TTTGCAC_MIR19A_MIR19B, MORF_DCC, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN
GO Biological Process (1): regulation of signal transduction (GO:0009966)
GO Molecular Function (3): protein phosphatase regulator activity (GO:0019888), protein phosphatase binding (GO:0019903), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasmic ribonucleoprotein granule (GO:0036464), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| phosphatase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| ribonucleoprotein granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1190 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP6R2 | PPP6C | O00743 | 954 |
| PPP6R2 | SF3B1 | O75533 | 923 |
| PPP6R2 | NFKBIE | O00221 | 827 |
| PPP6R2 | PPP2CA | P05323 | 733 |
| PPP6R2 | ANKRD44 | Q8N8A2 | 713 |
| PPP6R2 | DPH3 | Q96FX2 | 682 |
| PPP6R2 | ANKRD52 | Q8NB46 | 657 |
| PPP6R2 | KTI12 | Q96EK9 | 632 |
| PPP6R2 | ANKRD28 | O15084 | 621 |
| PPP6R2 | PPP4R2 | Q9NY27 | 599 |
| PPP6R2 | PPP4R1 | Q8TF05 | 579 |
| PPP6R2 | PPP4C | P33172 | 576 |
| PPP6R2 | ELP6 | Q0PNE2 | 548 |
| PPP6R2 | PPP6R3 | Q5H9R7 | 502 |
| PPP6R2 | DIPK1A | Q5T7M9 | 493 |
IntAct
91 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP6C | ANKRD28 | psi-mi:“MI:0914”(association) | 0.870 |
| PPP6C | PPP6R2 | psi-mi:“MI:0915”(physical association) | 0.870 |
| ANKRD28 | PPP6C | psi-mi:“MI:0914”(association) | 0.870 |
| PPP6R2 | PPP6C | psi-mi:“MI:0914”(association) | 0.870 |
| ANKRD52 | PPP6C | psi-mi:“MI:0914”(association) | 0.790 |
| PLK1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.790 |
| ANKRD44 | PPP6C | psi-mi:“MI:0914”(association) | 0.790 |
| PPP6R2 | ANKRD28 | psi-mi:“MI:0915”(physical association) | 0.760 |
| ANKRD44 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.710 |
| USP10 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.610 |
| SDCBP | PPP6R2 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| NFKBIE | PPP6R2 | psi-mi:“MI:0915”(physical association) | 0.590 |
| PLK1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.560 |
| PLK1 | PPP6C | psi-mi:“MI:0914”(association) | 0.530 |
| GORASP1 | PPP6R2 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| AURKA | WDR62 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFRL | ANKRD28 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SDCBP | TARS3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (205): PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS), PPP6R2 (Affinity Capture-MS)
ESM2 similar proteins: A0A8M9QN10, A1X157, A7E305, B0BF33, B3MSI4, B4F6W9, E1B7Q7, F1LP64, F1RCR6, G3X9J0, G5E870, O60292, O75170, O95155, P42858, P42859, P51112, P70478, Q07DW4, Q07DY4, Q07DZ5, Q07E41, Q08AE8, Q09YJ3, Q09YK4, Q09YM8, Q108T9, Q14669, Q1L8G6, Q1LUT1, Q1LVK9, Q2NL16, Q2QLB3, Q2QLF8, Q2V2M9, Q3UJB9, Q3ZAV8, Q6I6G8, Q6P2E9, Q6P2L6
Diamond homologs: O75170, Q5F471, Q5H9R7, Q6NRF1, Q6NRI0, Q7TSI3, Q8R3Q2, Q922D4, Q9UPN7, B5VMH6, C8ZCJ2, P36123, P40856
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDK1 | “down-regulates activity” | PPP6R2 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
194 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 144 |
| Likely benign | 17 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3062449 | GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 | Pathogenic |
SpliceAI
5712 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:50343546:GGCAG:G | donor_gain | 1.0000 |
| 22:50343547:GCAG:G | donor_gain | 1.0000 |
| 22:50343547:GCAGG:G | donor_gain | 1.0000 |
| 22:50343551:GTG:G | donor_loss | 1.0000 |
| 22:50372148:AAGGT:A | donor_loss | 1.0000 |
| 22:50372150:GGT:G | donor_loss | 1.0000 |
| 22:50372151:G:GA | donor_loss | 1.0000 |
| 22:50394136:G:GG | donor_gain | 1.0000 |
| 22:50414678:G:GT | donor_gain | 1.0000 |
| 22:50414686:GCAC:G | donor_gain | 1.0000 |
| 22:50414688:AC:A | donor_gain | 1.0000 |
| 22:50414690:G:GG | donor_gain | 1.0000 |
| 22:50414690:GT:G | donor_loss | 1.0000 |
| 22:50414691:T:A | donor_loss | 1.0000 |
| 22:50414694:G:GG | donor_gain | 1.0000 |
| 22:50416088:TCA:T | acceptor_loss | 1.0000 |
| 22:50416089:CAG:C | acceptor_loss | 1.0000 |
| 22:50416090:A:AG | acceptor_gain | 1.0000 |
| 22:50416090:AG:A | acceptor_loss | 1.0000 |
| 22:50416090:AGT:A | acceptor_gain | 1.0000 |
| 22:50416090:AGTG:A | acceptor_gain | 1.0000 |
| 22:50416091:G:GA | acceptor_gain | 1.0000 |
| 22:50416091:GT:G | acceptor_gain | 1.0000 |
| 22:50416091:GTG:G | acceptor_gain | 1.0000 |
| 22:50416091:GTGG:G | acceptor_gain | 1.0000 |
| 22:50416091:GTGGC:G | acceptor_gain | 1.0000 |
| 22:50416155:GAT:G | donor_gain | 1.0000 |
| 22:50416158:G:GG | donor_gain | 1.0000 |
| 22:50416158:G:T | donor_loss | 1.0000 |
| 22:50416159:T:A | donor_loss | 1.0000 |
AlphaMissense
6341 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:50393912:T:C | F2L | 0.999 |
| 22:50393914:C:A | F2L | 0.999 |
| 22:50393914:C:G | F2L | 0.999 |
| 22:50393915:T:A | W3R | 0.999 |
| 22:50393915:T:C | W3R | 0.999 |
| 22:50393917:G:C | W3C | 0.999 |
| 22:50393917:G:T | W3C | 0.999 |
| 22:50394022:G:C | K38N | 0.999 |
| 22:50394022:G:T | K38N | 0.999 |
| 22:50406712:T:C | L84P | 0.999 |
| 22:50406825:A:C | S122R | 0.999 |
| 22:50406827:T:A | S122R | 0.999 |
| 22:50406827:T:G | S122R | 0.999 |
| 22:50406834:A:C | S125R | 0.999 |
| 22:50406836:C:A | S125R | 0.999 |
| 22:50406836:C:G | S125R | 0.999 |
| 22:50406839:G:C | K126N | 0.999 |
| 22:50406839:G:T | K126N | 0.999 |
| 22:50431198:A:T | N384I | 0.999 |
| 22:50431199:T:A | N384K | 0.999 |
| 22:50431199:T:G | N384K | 0.999 |
| 22:50431202:C:A | N385K | 0.999 |
| 22:50431202:C:G | N385K | 0.999 |
| 22:50435004:T:C | L480P | 0.999 |
| 22:50436393:T:A | W515R | 0.999 |
| 22:50436393:T:C | W515R | 0.999 |
| 22:50393913:T:C | F2S | 0.998 |
| 22:50393913:T:G | F2C | 0.998 |
| 22:50394131:T:C | F75L | 0.998 |
| 22:50394133:C:A | F75L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000032933 (22:50337351 G>A,C,T), RS1000033269 (22:50429458 A>G), RS1000062128 (22:50424417 C>A,T), RS1000088850 (22:50343558 C>A,T), RS1000110499 (22:50392534 C>T), RS1000157492 (22:50386050 C>G), RS1000176545 (22:50391319 A>C,G), RS1000211251 (22:50385774 C>G), RS1000249163 (22:50386969 C>G,T), RS1000270746 (22:50351615 A>G,T), RS1000282090 (22:50355953 T>C), RS1000295598 (22:50348815 C>G,T), RS1000309068 (22:50370442 C>A,T), RS1000314998 (22:50423153 G>A), RS1000320508 (22:50337562 CTGTG>C,CTG)
Disease associations
OMIM: gene MIM:610877 | 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
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002481_12 | Acne (severe) | 4.000000e-06 |
| GCST006612_125 | LDL cholesterol | 5.000000e-08 |
| GCST006979_837 | Heel bone mineral density | 4.000000e-16 |
| GCST007429_92 | Lung function (FVC) | 5.000000e-07 |
| GCST007430_66 | Peak expiratory flow | 9.000000e-06 |
| GCST007432_102 | FEV1 | 1.000000e-09 |
| GCST010204_149 | Low density lipoprotein cholesterol levels | 9.000000e-10 |
| GCST010243_22 | Apolipoprotein B levels | 4.000000e-13 |
| GCST010245_46 | LDL cholesterol levels | 4.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004312 | vital capacity |
| EFO:0009718 | peak expiratory flow |
| EFO:0004314 | forced expiratory volume |
| EFO:0004615 | apolipoprotein B 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: yes
ChEMBL targets (1): CHEMBL4105960 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| manganese chloride | decreases expression, increases abundance | 1 |
| isobutyl alcohol | increases abundance, affects cotreatment, decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Manganese | decreases expression, increases abundance | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Quercetin | decreases expression | 1 |
| Selenium | affects cotreatment, increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vitamin E | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | decreases expression, increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| 1-Butanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4012583 | Binding | Binding affinity to PP6R2 protein in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TG32 | HAP1 PPP6R2 (-) 1 | Cancer cell line | Male |
| CVCL_TG33 | HAP1 PPP6R2 (-) 2 | 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acne