PPP4R3B
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Also known as PSY2FLFL2KIAA1387FLJ31474
Summary
PPP4R3B (protein phosphatase 4 regulatory subunit 3B, HGNC:29267) is a protein-coding gene on chromosome 2p16.1, encoding Serine/threonine-protein phosphatase 4 regulatory subunit 3B (Q5MIZ7). Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4).
Predicted to enable protein phosphatase activator activity. Involved in regulation of double-strand break repair. Located in centrosome; chromatin; and nuclear speck. Part of protein phosphatase 4 complex.
Source: NCBI Gene 57223 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 119 total
- Druggable target: yes
- MANE Select transcript:
NM_001122964
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29267 |
| Approved symbol | PPP4R3B |
| Name | protein phosphatase 4 regulatory subunit 3B |
| Location | 2p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PSY2, FLFL2, KIAA1387, FLJ31474 |
| Ensembl gene | ENSG00000275052 |
| Ensembl biotype | protein_coding |
| OMIM | 610352 |
| Entrez | 57223 |
Gene structure
Transcript identifiers
Ensembl transcripts: 57 — 54 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000470801, ENST00000482826, ENST00000611717, ENST00000612688, ENST00000616288, ENST00000616407, ENST00000890050, ENST00000890052, ENST00000890053, ENST00000890054, ENST00000890055, ENST00000890056, ENST00000890057, ENST00000890058, ENST00000890059, ENST00000890060, ENST00000890061, ENST00000890062, ENST00000890063, ENST00000890064, ENST00000890065, ENST00000890066, ENST00000890067, ENST00000890068, ENST00000890069, ENST00000890070, ENST00000890071, ENST00000890072, ENST00000890073, ENST00000890074, ENST00000890075, ENST00000890076, ENST00000890077, ENST00000890078, ENST00000890079, ENST00000890080, ENST00000890081, ENST00000890082, ENST00000890083, ENST00000890084, ENST00000890085, ENST00000890086, ENST00000925128, ENST00000925129, ENST00000925130, ENST00000925131, ENST00000925132, ENST00000925133, ENST00000953461, ENST00000953462, ENST00000953463, ENST00000953464, ENST00000953465, ENST00000953466, ENST00000953467, ENST00000953468, ENST00000953469
RefSeq mRNA: 3 — MANE Select: NM_001122964
NM_001122964, NM_001282850, NM_020463
CCDS: CCDS1855, CCDS46289, CCDS62913
Canonical transcript exons
ENST00000616407 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003716706 | 55558775 | 55558968 |
| ENSE00003719374 | 55581567 | 55581698 |
| ENSE00003727370 | 55578247 | 55578342 |
| ENSE00003728592 | 55547292 | 55550006 |
| ENSE00003729471 | 55585051 | 55585167 |
| ENSE00003733248 | 55598416 | 55599039 |
| ENSE00003733493 | 55615451 | 55615506 |
| ENSE00003735548 | 55573619 | 55573777 |
| ENSE00003738312 | 55568194 | 55568363 |
| ENSE00003741049 | 55579679 | 55579781 |
| ENSE00003743674 | 55617144 | 55617622 |
| ENSE00003746152 | 55577315 | 55577356 |
| ENSE00003746425 | 55586618 | 55586734 |
| ENSE00003749064 | 55564313 | 55564497 |
| ENSE00003750114 | 55564902 | 55565041 |
| ENSE00003750954 | 55588879 | 55588956 |
| ENSE00003752712 | 55603978 | 55604076 |
Expression profiles
Bgee: expression breadth ubiquitous, 276 present calls, max score 97.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.0002 / max 516.7301, expressed in 1809 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 28474 | 27.8202 | 1799 |
| 28480 | 1.6025 | 840 |
| 28478 | 1.2670 | 784 |
| 28477 | 0.6825 | 400 |
| 28479 | 0.5653 | 296 |
| 28473 | 0.0583 | 26 |
| 28472 | 0.0044 | 3 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 97.52 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.47 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.48 | gold quality |
| ventricular zone | UBERON:0003053 | 95.87 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.73 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.70 | gold quality |
| cortical plate | UBERON:0005343 | 95.32 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.80 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.67 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.26 | gold quality |
| tonsil | UBERON:0002372 | 94.25 | gold quality |
| oral cavity | UBERON:0000167 | 94.05 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.04 | gold quality |
| penis | UBERON:0000989 | 93.60 | gold quality |
| caput epididymis | UBERON:0004358 | 93.59 | gold quality |
| upper leg skin | UBERON:0004262 | 93.57 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.55 | gold quality |
| superficial temporal artery | UBERON:0001614 | 93.49 | gold quality |
| jejunum | UBERON:0002115 | 93.40 | gold quality |
| rectum | UBERON:0001052 | 93.36 | gold quality |
| monocyte | CL:0000576 | 93.27 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 92.96 | gold quality |
| endothelial cell | CL:0000115 | 92.94 | gold quality |
| leukocyte | CL:0000738 | 92.92 | gold quality |
| mononuclear cell | CL:0000842 | 92.88 | gold quality |
| skin of hip | UBERON:0001554 | 92.69 | gold quality |
| endometrium | UBERON:0001295 | 92.68 | gold quality |
| gall bladder | UBERON:0002110 | 92.64 | gold quality |
| adrenal tissue | UBERON:0018303 | 92.62 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.60 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124858 | no | 221.49 |
| E-CURD-112 | no | 2.27 |
| E-HCAD-31 | no | 1.98 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
154 targeting PPP4R3B, 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-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-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
Literature-anchored findings (GeneRIF, showing 1)
- 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)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp4r3b | ENSDARG00000103415 |
| mus_musculus | Ppp4r3b | ENSMUSG00000020463 |
| rattus_norvegicus | Ppp4r3b | ENSRNOG00000003712 |
| drosophila_melanogaster | flfl | FBGN0024555 |
| caenorhabditis_elegans | WBGENE00018285 |
Paralogs (2): PPP4R3A (ENSG00000100796), PPP4R3C (ENSG00000224960)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 4 regulatory subunit 3B — Q5MIZ7 (reviewed: Q5MIZ7)
Alternative names: SMEK homolog 2
All UniProt accessions (1): Q5MIZ7
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.
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 complex PPP4C-PPP4R2-PPP4R3B.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus.
Tissue specificity. Moderately expressed in tissues and specific brain regions examined.
Miscellaneous. May be due to intron retention.
Similarity. Belongs to the SMEK family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5MIZ7-1 | 1 | yes |
| Q5MIZ7-2 | 2 | |
| Q5MIZ7-3 | 3 | |
| Q5MIZ7-4 | 4 | |
| Q5MIZ7-5 | 5 |
RefSeq proteins (3): NP_001116436, NP_001269779, NP_065196 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006887 | P4R3-like_central_dom | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR051137 | PP4R3-like | Family |
| IPR055236 | EVH1_PP4R3 | Domain |
Pfam: PF04802, PF22972
UniProt features (19 total): splice variant 6, compositionally biased region 4, modified residue 3, sequence variant 2, chain 1, domain 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5MIZ7-F1 | 76.48 | 0.59 |
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): 117, 695, 840
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 268 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GGGACCA_MIR133A_MIR133B, TGGTGCT_MIR29A_MIR29B_MIR29C, MODULE_97, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_182, GOBP_REGULATION_OF_DNA_REPAIR, YY1_Q6, GOBP_POSITIVE_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER
GO Biological Process (4): gluconeogenesis (GO:0006094), DNA damage response (GO:0006974), positive regulation of gluconeogenesis (GO:0045722), regulation of double-strand break repair (GO:2000779)
GO Molecular Function (2): protein phosphatase activator activity (GO:0072542), protein phosphatase regulator activity (GO:0019888)
GO Cellular Component (8): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), centrosome (GO:0005813), nuclear speck (GO:0016607), protein phosphatase 4 complex (GO:0030289), nucleus (GO:0005634), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| phosphoprotein phosphatase activity | 2 |
| glucose metabolic process | 1 |
| hexose biosynthetic process | 1 |
| cellular response to stress | 1 |
| gluconeogenesis | 1 |
| regulation of gluconeogenesis | 1 |
| positive regulation of biosynthetic process | 1 |
| positive regulation of glucose metabolic process | 1 |
| regulation of DNA repair | 1 |
| double-strand break repair | 1 |
| phosphatase activator activity | 1 |
| protein phosphatase regulator activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| nuclear ribonucleoprotein granule | 1 |
| protein serine/threonine phosphatase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1524 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP4R3B | PPP4C | P33172 | 995 |
| PPP4R3B | PPP4R2 | Q9NY27 | 954 |
| PPP4R3B | RANBP1 | P43487 | 745 |
| PPP4R3B | ATR | Q13535 | 704 |
| PPP4R3B | VASP | P50552 | 669 |
| PPP4R3B | MAP2K1 | Q02750 | 615 |
| PPP4R3B | PPP4R1 | Q8TF05 | 568 |
| PPP4R3B | PLEK2 | Q9NYT0 | 540 |
| PPP4R3B | CHEK2 | O96017 | 537 |
| PPP4R3B | PPP4R4 | Q6NUP7 | 533 |
| PPP4R3B | PLEK | P08567 | 493 |
| PPP4R3B | BSDC1 | Q9NW68 | 491 |
| PPP4R3B | MRPL51 | Q4U2R6 | 490 |
| PPP4R3B | CENPC | Q03188 | 488 |
| PPP4R3B | DCP2 | Q8IU60 | 485 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BNIP3 | BNIP3L | psi-mi:“MI:0914”(association) | 0.970 |
| PPP4R2 | PPP4C | psi-mi:“MI:0914”(association) | 0.950 |
| PPP4R3B | PPP4C | psi-mi:“MI:0914”(association) | 0.890 |
| PPP4R2 | TIPRL | psi-mi:“MI:0914”(association) | 0.800 |
| PPP4C | TCP1 | psi-mi:“MI:0914”(association) | 0.730 |
| DHX38 | PPP4C | psi-mi:“MI:0914”(association) | 0.730 |
| PPP4C | SUPT5H | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFA13 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| DHX38 | DHX16 | psi-mi:“MI:0914”(association) | 0.630 |
| PPP4R2 | SF3B1 | psi-mi:“MI:0914”(association) | 0.570 |
| PPP4R2 | SF3B1 | psi-mi:“MI:2364”(proximity) | 0.570 |
| COMTD1 | IFRD1 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC6 | LZTS3 | psi-mi:“MI:0914”(association) | 0.530 |
| PMPCB | AMY1A | psi-mi:“MI:0914”(association) | 0.530 |
| CRAMP1 | NPAT | psi-mi:“MI:0914”(association) | 0.530 |
| CUEDC1 | TOM1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSSC4 | SNRNP200 | psi-mi:“MI:0914”(association) | 0.530 |
| SPG11 | PPP4R3B | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP4R3B | psi-mi:“MI:0915”(physical association) | 0.370 | |
| RNGTT | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| SYK | PLEKHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| TAFA3 | FUOM | psi-mi:“MI:0914”(association) | 0.350 |
| EFNB1 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| CT45A6 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF785 | CASK | psi-mi:“MI:0914”(association) | 0.350 |
| PPP4C | MID1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (115): SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), HNRNPU (Co-fractionation), OSBPL8 (Co-fractionation), PPP4C (Co-fractionation), SMEK2 (Co-fractionation), SMEK2 (Co-fractionation), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5P556, A0A3Q1LSX9, A2A5R2, A2APV2, B0DOB5, B2RQE8, D3ZYR1, D4A631, F1LVW7, F1M775, F4IUX6, G3X9K3, O08808, O46382, O60308, O60610, O75674, O95466, Q07139, Q0IHV1, Q0JRZ9, Q3UQN2, Q4S6U8, Q5MIZ7, Q5R807, Q5SP90, Q6DFT3, Q6IN85, Q6INN7, Q6NTV6, Q6NXC0, Q6P2K6, Q6ZPF4, Q7TSU1, Q7ZX60, Q801Q7, Q80U19, Q86T65, Q8BPM0, Q8IVF7
Diamond homologs: Q3V0Y1, Q4S6U8, Q54I18, Q5MIZ7, Q5SP90, Q6DFT3, Q6IN85, Q6INN7, Q6P2K6, Q6ZMV5, Q7ZX60, Q801Q7, Q922R5, Q9VFS5, Q9Y7J8, Q6CQ91, Q75E32
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 78 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 - Major Pathway | 7 | 8.9× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA splicing, via spliceosome | 8 | 10.5× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
119 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3222 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:55558770:CCTA:C | donor_loss | 1.0000 |
| 2:55558771:CTAC:C | donor_loss | 1.0000 |
| 2:55558774:C:CG | donor_loss | 1.0000 |
| 2:55558966:TTG:T | acceptor_gain | 1.0000 |
| 2:55558969:C:CC | acceptor_gain | 1.0000 |
| 2:55564307:TAATA:T | donor_loss | 1.0000 |
| 2:55564309:ATAC:A | donor_loss | 1.0000 |
| 2:55564310:TACCT:T | donor_loss | 1.0000 |
| 2:55564311:A:AT | donor_loss | 1.0000 |
| 2:55564312:C:CT | donor_loss | 1.0000 |
| 2:55564345:T:C | donor_gain | 1.0000 |
| 2:55564493:GTACA:G | acceptor_gain | 1.0000 |
| 2:55564494:TACA:T | acceptor_gain | 1.0000 |
| 2:55564496:CA:C | acceptor_gain | 1.0000 |
| 2:55564496:CACTG:C | acceptor_loss | 1.0000 |
| 2:55564498:C:CC | acceptor_gain | 1.0000 |
| 2:55564498:C:CG | acceptor_loss | 1.0000 |
| 2:55564499:T:G | acceptor_loss | 1.0000 |
| 2:55564894:A:C | donor_gain | 1.0000 |
| 2:55564896:CAATA:C | donor_loss | 1.0000 |
| 2:55564898:ATAC:A | donor_loss | 1.0000 |
| 2:55564899:TACCT:T | donor_loss | 1.0000 |
| 2:55564900:A:C | donor_loss | 1.0000 |
| 2:55564901:C:A | donor_loss | 1.0000 |
| 2:55565038:CTTC:C | acceptor_gain | 1.0000 |
| 2:55565039:TTC:T | acceptor_gain | 1.0000 |
| 2:55565041:CCTG:C | acceptor_loss | 1.0000 |
| 2:55565042:C:A | acceptor_loss | 1.0000 |
| 2:55565042:C:CC | acceptor_gain | 1.0000 |
| 2:55565043:T:G | acceptor_loss | 1.0000 |
AlphaMissense
5646 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:55568201:A:T | I643K | 1.000 |
| 2:55568225:G:T | A635D | 1.000 |
| 2:55568226:C:G | A635P | 1.000 |
| 2:55568229:A:G | S634P | 1.000 |
| 2:55568237:A:G | L631P | 1.000 |
| 2:55568239:A:C | N630K | 1.000 |
| 2:55568239:A:T | N630K | 1.000 |
| 2:55568264:A:G | L622P | 1.000 |
| 2:55568276:A:T | V618D | 1.000 |
| 2:55568288:A:G | L614P | 1.000 |
| 2:55568309:C:G | R607P | 1.000 |
| 2:55568316:A:C | Y605D | 1.000 |
| 2:55568327:T:A | K601I | 1.000 |
| 2:55568330:A:G | L600P | 1.000 |
| 2:55568344:C:A | R595S | 1.000 |
| 2:55568344:C:G | R595S | 1.000 |
| 2:55568345:C:A | R595M | 1.000 |
| 2:55568345:C:G | R595T | 1.000 |
| 2:55568354:C:G | R592P | 1.000 |
| 2:55568355:G:T | R592S | 1.000 |
| 2:55568357:A:G | L591P | 1.000 |
| 2:55568360:G:T | A590D | 1.000 |
| 2:55573621:A:C | L588W | 1.000 |
| 2:55573629:A:C | F585L | 1.000 |
| 2:55573629:A:T | F585L | 1.000 |
| 2:55573631:A:G | F585L | 1.000 |
| 2:55573657:A:C | L576W | 1.000 |
| 2:55573695:T:A | K563N | 1.000 |
| 2:55573695:T:G | K563N | 1.000 |
| 2:55573696:T:A | K563I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000011209 (2:55564322 T>C), RS1000021861 (2:55581949 A>G), RS1000042525 (2:55616229 G>A,C), RS1000105937 (2:55570224 T>C), RS1000119507 (2:55601539 C>G), RS1000128216 (2:55576095 C>T), RS1000159911 (2:55593948 G>A,T), RS1000186382 (2:55599921 G>A), RS1000212299 (2:55570771 T>C), RS1000214475 (2:55611669 T>C,G), RS1000218652 (2:55561894 G>T), RS1000247003 (2:55611840 C>T), RS1000270155 (2:55596523 G>A), RS1000320031 (2:55578305 G>A), RS1000342442 (2:55572686 T>C)
Disease associations
OMIM: gene MIM:610352 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001436_4 | Metabolic syndrome | 4.000000e-08 |
| GCST004785_29 | Vitiligo | 4.000000e-19 |
| GCST010002_365 | Refractive error | 3.000000e-34 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000195 | metabolic syndrome |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105714 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 3 |
| trichostatin A | decreases expression, affects cotreatment | 3 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| afimoxifene | decreases expression, decreases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects 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 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cycloheximide | affects cotreatment, increases expression | 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 |
|---|---|---|---|
| CHEMBL4026813 | Binding | Inhibition of human MEK2 (M1 to V400 residues) expressed in mammalian expression system assessed as percent enzyme activity at 1 uM relative to control | Identification of 4-Phenoxyquinoline Based Inhibitors for L1196M Mutant of Anaplastic Lymphoma Kinase by Structure-Based Design. — J Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2C0 | Abcam HeLa PPP4R3B KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): vitiligo