PPP4R2
gene geneOn this page
Summary
PPP4R2 (protein phosphatase 4 regulatory subunit 2, HGNC:18296) is a protein-coding gene on chromosome 3p13, encoding Serine/threonine-protein phosphatase 4 regulatory subunit 2 (Q9NY27). Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). It is a selective cancer dependency (DepMap: 73.6% of cell lines).
The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 151987 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 68 total
- Cancer dependency (DepMap): dependent in 73.6% of screened cell lines
- MANE Select transcript:
NM_174907
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18296 |
| Approved symbol | PPP4R2 |
| Name | protein phosphatase 4 regulatory subunit 2 |
| Location | 3p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000163605 |
| Ensembl biotype | protein_coding |
| OMIM | 613822 |
| Entrez | 151987 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000356692, ENST00000460360, ENST00000470976, ENST00000476505, ENST00000482242, ENST00000488810, ENST00000495566, ENST00000710398
RefSeq mRNA: 5 — MANE Select: NM_174907
NM_001318025, NM_001318026, NM_001318027, NM_001318028, NM_174907
CCDS: CCDS2917, CCDS82805
Canonical transcript exons
ENST00000356692 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001076470 | 73061023 | 73061060 |
| ENSE00001076472 | 73063673 | 73063747 |
| ENSE00001076473 | 73064852 | 73065141 |
| ENSE00001076474 | 73064003 | 73064146 |
| ENSE00001857042 | 72996811 | 72997071 |
| ENSE00001895742 | 73065397 | 73069198 |
| ENSE00003511452 | 73059037 | 73059130 |
| ENSE00003592578 | 72998077 | 72998158 |
| ENSE00003611594 | 73047186 | 73047356 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 97.97.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4440 / max 1234.6092, expressed in 1808 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37332 | 23.4440 | 1808 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.97 | gold quality |
| oviduct epithelium | UBERON:0004804 | 97.73 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.83 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.38 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 96.12 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.99 | gold quality |
| bone marrow | UBERON:0002371 | 95.46 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.67 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 94.59 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.49 | gold quality |
| oocyte | CL:0000023 | 94.43 | gold quality |
| bone marrow cell | CL:0002092 | 94.43 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.38 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.34 | gold quality |
| myocardium | UBERON:0002349 | 94.33 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.30 | gold quality |
| placenta | UBERON:0001987 | 94.29 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.15 | gold quality |
| deltoid | UBERON:0001476 | 94.12 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.07 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.02 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.01 | gold quality |
| cartilage tissue | UBERON:0002418 | 93.91 | gold quality |
| tibia | UBERON:0000979 | 93.82 | gold quality |
| ventricular zone | UBERON:0003053 | 93.82 | gold quality |
| endometrium | UBERON:0001295 | 93.69 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.48 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.05 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.05 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 93.01 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.32 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
245 targeting PPP4R2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 73.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- A three-protein PP4 phosphatase complex in mammalian cells, containing PP4C, PP4R2, and PP4R3beta, specifically dephosphorylates ATR-mediated gamma-H2AX generated during DNA replication. (PMID:18614045)
- PP4R2, a regulatory subunit of PP4, mediates the DNA damage-dependent association between RPA2 and the PP4C catalytic subunit. (PMID:20154705)
- PPP4R2 affects the survival of neuronal cells in response to DNA damage. (PMID:22559936)
- Results from a study on gene expression variability markers in early-stage human embryos shows that PPP4R2 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Serine/threonine-protein phosphatase 4 regulatory subunit 2 — Q9NY27 (reviewed: Q9NY27)
All UniProt accessions (7): Q9NY27, A0AA34QVI2, C9IZ04, C9IZF4, F8WCA1, F8WDK3, H7C559
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on ‘Ser-140’ (gamma-H2AX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair.
Subunit / interactions. Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complexes PPP4C-PPP4R2, PPP4C-PPP4R2-PPP4R3A and PPP4C-PPP4R2-PPP4R3B. The PPP4C-PPP4R2 complex appears to be a tetramer composed of 2 molecules of PPP4C and 2 molecules of PPP4R2. Interacts with DDX20/GEMIN3 and GEMIN4. Interacts with RPA2; this DNA damage-dependent interaction recruits PPP4C leading to RPA2 dephosphorylation.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus.
Tissue specificity. Widely expressed.
Similarity. Belongs to the PPP4R2 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NY27-1 | 1 | yes |
| Q9NY27-2 | 2 | |
| Q9NY27-3 | 3 |
RefSeq proteins (5): NP_001304954, NP_001304955, NP_001304956, NP_001304957, NP_777567* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015267 | PPP4R2 | Family |
Pfam: PF09184
UniProt features (26 total): compositionally biased region 15, mutagenesis site 3, modified residue 2, splice variant 2, sequence variant 2, chain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NY27-F1 | 62.82 | 0.27 |
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 (2): 159, 226
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 99 | no effect on rpa2-binding; decrease in ppp4c-binding. |
| 103 | no effect on rpa2-binding; loss of ppp4c-binding. |
| 106 | no effect on rpa2-binding, nor on ppp4c-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5693607 | Processing of DNA double-strand break ends |
MSigDB gene sets: 245 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, MODULE_255, MODULE_45, MODULE_317, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_REGULATION_OF_DNA_REPAIR, GOCC_MICROTUBULE_ORGANIZING_CENTER, MODULE_66, MODULE_118, MODULE_379, chr3p13, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, KMCATNNWGGA_UNKNOWN
GO Biological Process (5): mRNA processing (GO:0006397), RNA splicing (GO:0008380), regulation of double-strand break repair via homologous recombination (GO:0010569), protein modification process (GO:0036211), regulation of double-strand break repair (GO:2000779)
GO Molecular Function (3): protein phosphatase regulator activity (GO:0019888), protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)
GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), protein phosphatase 4 complex (GO:0030289), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| RNA processing | 2 |
| mRNA metabolic process | 1 |
| regulation of DNA recombination | 1 |
| double-strand break repair via homologous recombination | 1 |
| regulation of double-strand break repair | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| regulation of DNA repair | 1 |
| double-strand break repair | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| protein serine/threonine phosphatase complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1890 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP4R2 | PPP4C | P33172 | 998 |
| PPP4R2 | PPP4R3A | Q6IN85 | 995 |
| PPP4R2 | PPP4R1 | Q8TF05 | 971 |
| PPP4R2 | PPP4R3B | Q5MIZ7 | 954 |
| PPP4R2 | PPP4R4 | Q6NUP7 | 774 |
| PPP4R2 | GEMIN4 | P57678 | 725 |
| PPP4R2 | DDX20 | Q9UHI6 | 714 |
| PPP4R2 | PPP6C | O00743 | 646 |
| PPP4R2 | PPP6R2 | O75170 | 599 |
| PPP4R2 | PPP6R1 | Q9UPN7 | 519 |
| PPP4R2 | PPP4R3C | Q6ZMV5 | 498 |
| PPP4R2 | MAP2K1 | Q02750 | 455 |
| PPP4R2 | PPP2CA | P05323 | 446 |
| PPP4R2 | RPA2 | P15927 | 443 |
| PPP4R2 | GXYLT2 | A0PJZ3 | 441 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP4R2 | PPP4C | psi-mi:“MI:0914”(association) | 0.950 |
| PPP4R2 | PPP4C | psi-mi:“MI:0915”(physical association) | 0.950 |
| PPP4C | PPP4R2 | psi-mi:“MI:0915”(physical association) | 0.950 |
| PPME1 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.950 |
| PPP4R3A | PPP4C | psi-mi:“MI:0914”(association) | 0.920 |
| PPP4C | PPP4R3A | psi-mi:“MI:0914”(association) | 0.920 |
| PPP4R3B | PPP4C | psi-mi:“MI:0914”(association) | 0.890 |
| PPME1 | PPP2CA | psi-mi:“MI:0914”(association) | 0.880 |
| TIPRL | PPP4C | psi-mi:“MI:0914”(association) | 0.850 |
| PPP4R2 | TIPRL | psi-mi:“MI:0914”(association) | 0.800 |
| PPP4C | TCP1 | psi-mi:“MI:0914”(association) | 0.730 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| PPP4C | SUPT5H | psi-mi:“MI:0914”(association) | 0.640 |
| DNAJC8 | SF3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| DHX38 | DHX16 | psi-mi:“MI:0914”(association) | 0.630 |
| SF3B4 | SF3B1 | psi-mi:“MI:0914”(association) | 0.610 |
| USP10 | ANKRD28 | psi-mi:“MI:0914”(association) | 0.610 |
| PPP4R2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.570 |
| PPP4R2 | SF3B1 | psi-mi:“MI:2364”(proximity) | 0.570 |
| MARCKSL1 | NMT2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (216): PPP4R2 (Affinity Capture-MS), PPP4R2 (Affinity Capture-MS), PPP4R2 (Affinity Capture-MS), PPP4R2 (Affinity Capture-MS), PPP4R2 (Affinity Capture-MS), CUTA (Co-fractionation), DNAJA1 (Co-fractionation), PPP4C (Co-fractionation), PPP4R2 (Co-fractionation), SMEK1 (Co-fractionation), SMEK2 (Co-fractionation), PPP4C (Affinity Capture-MS), SLC4A1AP (Affinity Capture-MS), SMEK1 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS)
ESM2 similar proteins: A0FKI7, A1L1M4, A5X7A0, A7XYJ6, A8MW92, E1BE02, F8VPQ2, O18805, O35613, O94885, P59598, P59808, Q0VGB7, Q13029, Q28IG6, Q4V9H5, Q5M7D6, Q5R9U6, Q5RJ80, Q5TJE1, Q5XG73, Q5ZHQ6, Q5ZM88, Q5ZMU6, Q63755, Q640U0, Q641E3, Q6DCQ0, Q6I6G8, Q6KAQ7, Q6P964, Q6ZQ03, Q76L83, Q76LL6, Q76N89, Q7TT18, Q8BLG0, Q8BZ32, Q8C9B9, Q8CCJ9
Diamond homologs: A1L1M4, Q0VGB7, Q28IG6, Q5M7D6, Q5R9U6, Q5ZMU6, Q6DCQ0, Q6P964, Q9NY27, Q9W2U4, P0C5B7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| mRNA Splicing - Minor Pathway | 9 | 31.0× | 6e-10 |
| mRNA Splicing | 14 | 23.6× | 7e-14 |
| mRNA Polyadenylation | 14 | 18.9× | 1e-12 |
| CHD1 and CHD2 subfamily | 11 | 18.4× | 8e-10 |
| Processing of Capped Intron-Containing Pre-mRNA | 14 | 17.7× | 2e-12 |
| mRNA Splicing - Major Pathway | 20 | 16.8× | 5e-17 |
| Influenza Infection | 5 | 13.5× | 1e-03 |
| Metabolism of RNA | 20 | 12.8× | 5e-15 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 10 | 79.0× | 5e-15 |
| RNA splicing, via transesterification reactions | 6 | 47.4× | 2e-07 |
| mRNA splicing, via spliceosome | 17 | 19.7× | 4e-15 |
| RNA splicing | 12 | 13.4× | 1e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2177 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:72997059:G:GT | donor_gain | 1.0000 |
| 3:72998071:A:AG | acceptor_gain | 1.0000 |
| 3:72998072:TCTA:T | acceptor_loss | 1.0000 |
| 3:72998073:CTA:C | acceptor_loss | 1.0000 |
| 3:72998075:A:AG | acceptor_gain | 1.0000 |
| 3:72998075:AGA:A | acceptor_loss | 1.0000 |
| 3:72998076:G:GA | acceptor_gain | 1.0000 |
| 3:72998076:GA:G | acceptor_gain | 1.0000 |
| 3:72998076:GAT:G | acceptor_gain | 1.0000 |
| 3:72998076:GATT:G | acceptor_gain | 1.0000 |
| 3:72998076:GATTT:G | acceptor_gain | 1.0000 |
| 3:72998154:ACAAT:A | donor_gain | 1.0000 |
| 3:72998155:CAATG:C | donor_loss | 1.0000 |
| 3:72998156:AATGT:A | donor_loss | 1.0000 |
| 3:72998157:AT:A | donor_gain | 1.0000 |
| 3:72998157:ATG:A | donor_loss | 1.0000 |
| 3:72998158:TGT:T | donor_loss | 1.0000 |
| 3:72998159:G:GG | donor_gain | 1.0000 |
| 3:72998159:GTGAG:G | donor_loss | 1.0000 |
| 3:72998160:T:G | donor_loss | 1.0000 |
| 3:72998161:GAGTT:G | donor_loss | 1.0000 |
| 3:73047181:TATA:T | acceptor_loss | 1.0000 |
| 3:73047183:TAG:T | acceptor_loss | 1.0000 |
| 3:73047184:A:AG | acceptor_gain | 1.0000 |
| 3:73047184:A:C | acceptor_loss | 1.0000 |
| 3:73047185:G:GG | acceptor_gain | 1.0000 |
| 3:73047322:G:GT | donor_gain | 1.0000 |
| 3:73047323:A:T | donor_gain | 1.0000 |
| 3:73047355:GG:G | donor_gain | 1.0000 |
| 3:73047355:GGGT:G | donor_loss | 1.0000 |
AlphaMissense
2789 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:72998125:T:C | F28S | 1.000 |
| 3:72998128:T:C | L29P | 1.000 |
| 3:72998139:G:C | A33P | 1.000 |
| 3:72998140:C:A | A33D | 1.000 |
| 3:72998148:G:A | G36R | 1.000 |
| 3:72998148:G:C | G36R | 1.000 |
| 3:72998149:G:A | G36E | 1.000 |
| 3:72998149:G:T | G36V | 1.000 |
| 3:73047193:T:A | W42R | 1.000 |
| 3:73047193:T:C | W42R | 1.000 |
| 3:73047194:G:C | W42S | 1.000 |
| 3:73047195:G:C | W42C | 1.000 |
| 3:73047195:G:T | W42C | 1.000 |
| 3:73047215:T:C | F49S | 1.000 |
| 3:73047225:A:C | K52N | 1.000 |
| 3:73047225:A:T | K52N | 1.000 |
| 3:73047227:T:C | L53P | 1.000 |
| 3:73047247:T:C | F60L | 1.000 |
| 3:73047248:T:C | F60S | 1.000 |
| 3:73047248:T:G | F60C | 1.000 |
| 3:73047249:C:A | F60L | 1.000 |
| 3:73047249:C:G | F60L | 1.000 |
| 3:73047293:T:A | V75D | 1.000 |
| 3:73047307:T:C | F80L | 1.000 |
| 3:73047309:T:A | F80L | 1.000 |
| 3:73047309:T:G | F80L | 1.000 |
| 3:73047321:G:C | K84N | 1.000 |
| 3:73047321:G:T | K84N | 1.000 |
| 3:73047329:T:A | I87K | 1.000 |
| 3:73047329:T:G | I87R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001682 (3:73033817 C>T), RS1000100460 (3:73038851 T>C), RS1000104804 (3:73025158 A>G), RS1000139143 (3:73044443 G>A,C), RS1000176054 (3:73005872 A>G,T), RS1000196140 (3:73040058 G>GA), RS1000212310 (3:73012593 G>A), RS1000232733 (3:73010554 C>G,T), RS1000246206 (3:73044185 A>T), RS1000251805 (3:72996914 C>A,G,T), RS1000253956 (3:73044269 C>T), RS1000267381 (3:73010348 C>T), RS1000279281 (3:73062983 G>A,C), RS1000306728 (3:73010089 T>C), RS1000397764 (3:73048977 C>G,T)
Disease associations
OMIM: gene MIM:613822 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006626_45 | Pulse pressure | 3.000000e-10 |
| GCST007269_29 | Pulse pressure | 7.000000e-09 |
| GCST007392_2 | Mitochondrial DNA copy number (white blood cells) | 6.000000e-07 |
| GCST010002_431 | Refractive error | 3.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0006312 | mitochondrial DNA measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 7 |
| Cadmium | decreases reaction, increases abundance, increases expression | 2 |
| Formaldehyde | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Cidofovir | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Azathioprine | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3EL | Abcam HEK293T PPP4R2 KO | Transformed cell line | Female |
| CVCL_TG24 | HAP1 PPP4R2 (-) 1 | Cancer cell line | Male |
| CVCL_TG25 | HAP1 PPP4R2 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.