PPM1E
gene geneOn this page
Also known as POPX1KIAA1072PP2CHCaMKP-N
Summary
PPM1E (protein phosphatase, Mg2+/Mn2+ dependent 1E, HGNC:19322) is a protein-coding gene on chromosome 17q24.2, encoding Protein phosphatase 1E (Q8WY54). Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2.
This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5’-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 22843 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 90 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_014906
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19322 |
| Approved symbol | PPM1E |
| Name | protein phosphatase, Mg2+/Mn2+ dependent 1E |
| Location | 17q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | POPX1, KIAA1072, PP2CH, CaMKP-N |
| Ensembl gene | ENSG00000175175 |
| Ensembl biotype | protein_coding |
| OMIM | 619308 |
| Entrez | 22843 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000308249
RefSeq mRNA: 1 — MANE Select: NM_014906
NM_014906
CCDS: CCDS11613
Canonical transcript exons
ENST00000308249 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001208070 | 58972832 | 58972925 |
| ENSE00001208077 | 58972132 | 58972275 |
| ENSE00001208081 | 58969539 | 58969727 |
| ENSE00001208084 | 58965694 | 58965893 |
| ENSE00001208090 | 58955649 | 58955767 |
| ENSE00001255303 | 58755854 | 58756461 |
| ENSE00001314564 | 58979974 | 58985179 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 98.97.
FANTOM5 (CAGE): breadth broad, TPM avg 6.2883 / max 280.9247, expressed in 715 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161936 | 6.0354 | 710 |
| 208284 | 0.1212 | 59 |
| 161937 | 0.1002 | 44 |
| 161935 | 0.0315 | 8 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.97 | gold quality |
| cortical plate | UBERON:0005343 | 95.03 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.32 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.96 | gold quality |
| secondary oocyte | CL:0000655 | 90.87 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.84 | gold quality |
| oocyte | CL:0000023 | 88.84 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.06 | gold quality |
| postcentral gyrus | UBERON:0002581 | 87.13 | gold quality |
| parietal lobe | UBERON:0001872 | 85.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.73 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 85.21 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 85.18 | gold quality |
| ventricular zone | UBERON:0003053 | 84.63 | gold quality |
| pons | UBERON:0000988 | 84.22 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.73 | gold quality |
| primary visual cortex | UBERON:0002436 | 83.17 | gold quality |
| Ammon’s horn | UBERON:0001954 | 82.35 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.03 | gold quality |
| prefrontal cortex | UBERON:0000451 | 80.95 | gold quality |
| occipital lobe | UBERON:0002021 | 80.74 | gold quality |
| sperm | CL:0000019 | 80.59 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.55 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 79.72 | gold quality |
| cerebral cortex | UBERON:0000956 | 79.42 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 78.53 | gold quality |
| frontal cortex | UBERON:0001870 | 78.25 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 78.06 | gold quality |
| male germ cell | CL:0000015 | 78.04 | gold quality |
| neocortex | UBERON:0001950 | 77.89 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 63.61 |
| E-CURD-119 | yes | 22.62 |
| E-ANND-3 | yes | 3.89 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SPI1, ZNF699
miRNA regulators (miRDB)
269 targeting PPM1E, 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-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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
Literature-anchored findings (GeneRIF, showing 7)
- The p21-activated kinase PAK is negatively regulated by POPX1 and POPX2, a pair of serine/threonine phosphatases of the PP2C family. (POPX1; POPX2) (PMID:11864573)
- The Ppm1E contributes to dephosphorylation of AMP-activated protein kinase. (PMID:20801214)
- Data show that miR-135b selectively targets the AMPK phosphatase Ppm1e. (PMID:27661114)
- miR-135b-5p expression downregulates Ppm1e to activate AMPK signaling, which inhibits LPS-induced TNFalpha production via suppressing ROS production and NFkappaB activation. (PMID:27793001)
- Ppm1E upregulation in human gastric cancer is important for cell proliferation, possible via regulating AMPK-mTOR signaling. (PMID:28423719)
- our results suggest that miR-135b-induced Ppm1e silence induces AMPK activation to inhibit osteoblastoma cell proliferation. (PMID:28460435)
- Reduced Expression Level of Protein Phosphatase PPM1E Serves to Maintain Insulin Secretion in Type 2 Diabetes. (PMID:36662636)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppm1e | ENSDARG00000026499 |
| mus_musculus | Ppm1e | ENSMUSG00000046442 |
| rattus_norvegicus | Ppm1e | ENSRNOG00000024730 |
| drosophila_melanogaster | Pdp | FBGN0029958 |
| drosophila_melanogaster | CG10376 | FBGN0032702 |
| caenorhabditis_elegans | pdp-1 | WBGENE00022832 |
Paralogs (16): PPM1F (ENSG00000100034), TAB1 (ENSG00000100324), PPM1A (ENSG00000100614), PPM1H (ENSG00000111110), PPM1G (ENSG00000115241), ILKAP (ENSG00000132323), PPM1B (ENSG00000138032), PPM1J (ENSG00000155367), PPM1L (ENSG00000163590), PPM1K (ENSG00000163644), PPM1M (ENSG00000164088), PDP1 (ENSG00000164951), PPM1D (ENSG00000170836), PDP2 (ENSG00000172840), PP2D1 (ENSG00000183977), PPM1N (ENSG00000213889)
Protein
Protein identifiers
Protein phosphatase 1E — Q8WY54 (reviewed: Q8WY54)
Alternative names: Ca(2+)/calmodulin-dependent protein kinase phosphatase N, CaMKP-nucleus, Partner of PIX 1, Partner of PIX-alpha
All UniProt accessions (1): Q8WY54
UniProt curated annotations — full annotation on UniProt →
Function. Protein phosphatase that inactivates multifunctional CaM kinases such as CAMK4 and CAMK2. Dephosphorylates and inactivates PAK. May play a role in the inhibition of actin fiber stress breakdown and in morphological changes driven by TNK2/CDC42. Dephosphorylates PRKAA2.
Subunit / interactions. Heterotrimer. Interacts with PAX1 and ARHGEF6 (or ARHGEF7).
Subcellular location. Nucleus. Cytoplasm.
Cofactor. Binds 2 magnesium or manganese ions per subunit.
Polymorphism. The poly-Pro-Glu stretch is polymorphic.
Similarity. Belongs to the PP2C family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WY54-2 | 2 | yes |
| Q8WY54-3 | 3 |
RefSeq proteins (1): NP_055721* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000222 | PP2C_BS | Binding_site |
| IPR001932 | PPM-type_phosphatase-like_dom | Domain |
| IPR015655 | PP2C | Family |
| IPR036457 | PPM-type-like_dom_sf | Homologous_superfamily |
Pfam: PF00481
Catalyzed reactions (Rhea), 2 shown:
- O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
- O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)
UniProt features (34 total): repeat 11, compositionally biased region 5, binding site 5, region of interest 3, sequence variant 3, modified residue 2, sequence conflict 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WY54-F1 | 64.66 | 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.
Ligand- & substrate-binding residues (5): 273; 273; 274; 435; 479
Post-translational modifications (2): 535, 548
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9617324 | Negative regulation of NMDA receptor-mediated neuronal transmission |
MSigDB gene sets: 0 (showing top):
GO Biological Process (7): negative regulation of protein kinase activity (GO:0006469), signal transduction (GO:0007165), peptidyl-threonine dephosphorylation (GO:0035970), positive regulation of stress fiber assembly (GO:0051496), cellular response to lipopolysaccharide (GO:0071222), cellular response to xenobiotic stimulus (GO:0071466), protein dephosphorylation (GO:0006470)
GO Molecular Function (6): protein serine/threonine phosphatase activity (GO:0004722), metal ion binding (GO:0046872), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787), cation binding (GO:0043169)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Activation of NMDA receptors and postsynaptic events | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| negative regulation of protein phosphorylation | 1 |
| protein kinase activity | 1 |
| negative regulation of kinase activity | 1 |
| regulation of protein kinase activity | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| protein dephosphorylation | 1 |
| positive regulation of actin filament bundle assembly | 1 |
| stress fiber assembly | 1 |
| regulation of stress fiber assembly | 1 |
| response to lipopolysaccharide | 1 |
| cellular response to molecule of bacterial origin | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to xenobiotic stimulus | 1 |
| cellular response to chemical stimulus | 1 |
| dephosphorylation | 1 |
| protein modification process | 1 |
| phosphoprotein phosphatase activity | 1 |
| cation binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| ion binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
1603 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPM1E | ARAP1 | Q96P48 | 557 |
| PPM1E | ARHGEF6 | Q15052 | 550 |
| PPM1E | TEX14 | Q8IWB6 | 447 |
| PPM1E | IQSEC3 | Q9UPP2 | 412 |
| PPM1E | MAD1L1 | Q9Y6D9 | 408 |
| PPM1E | MTMR4 | Q9NYA4 | 404 |
| PPM1E | NISCH | Q9Y2I1 | 397 |
| PPM1E | Q8N1N5 | Q8N1N5 | 392 |
| PPM1E | RFWD3 | Q6PCD5 | 370 |
| PPM1E | TUBD1 | Q9UJT1 | 357 |
| PPM1E | PPM1J | Q5JR12 | 356 |
| PPM1E | PPTC7 | Q8NI37 | 352 |
| PPM1E | PPM1H | Q9ULR3 | 349 |
| PPM1E | CAMKK2 | Q96RR4 | 349 |
| PPM1E | PPP5C | P53041 | 340 |
IntAct
25 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFAF5 | XRCC2 | psi-mi:“MI:0914”(association) | 0.530 |
| PPM1E | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSME3 | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA12B | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PRMT2 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| KDELR2 | CIAO1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPM1E | SERPINB4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A3 | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A11 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A9 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | PITPNM1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MAPT | DCTN6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| MAPT | psi-mi:“MI:2364”(proximity) | 0.270 | |
| PPM1E | DISC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TNIK | PPM1E | psi-mi:“MI:0915”(physical association) | 0.000 |
| DISC1 | PPM1E | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (57): PRKAA2 (Affinity Capture-Western), PRKAA1 (Biochemical Activity), PPM1E (Affinity Capture-MS), PPM1E (Affinity Capture-MS), PPM1E (Affinity Capture-MS), COX4I1 (Affinity Capture-MS), DNAJA3 (Affinity Capture-MS), HLA-C (Affinity Capture-MS), MAD2L1 (Affinity Capture-MS), NDUFA4 (Affinity Capture-MS), SLC25A5 (Affinity Capture-MS), SLFN11 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), STX17 (Affinity Capture-MS), TARDBP (Affinity Capture-MS)
ESM2 similar proteins: A0JPH4, A2AGX3, A2RRU4, A3KFU9, A6QM06, A7YWH3, B9U3F2, G5E8P0, O15040, O75129, P97260, Q12770, Q17RG1, Q2M3C6, Q2R2B1, Q32KQ7, Q4R5A4, Q562E2, Q5M9F0, Q5MNU5, Q5RA50, Q5SYB0, Q6GQT6, Q6L8S8, Q6L9W6, Q6PCP7, Q80TL0, Q80Z10, Q80Z30, Q86V42, Q8BHR8, Q8BZB3, Q8C0R7, Q8CIV2, Q8JZL1, Q8K0Z9, Q8K451, Q8NFM7, Q8NFN8, Q8VZJ0
Diamond homologs: A0A7U2MSD6, A0BLX0, A0BQL0, A0CUB5, A0DSB3, A0DTY1, A3A8W2, A3A8W6, A3CCP9, A5PJZ2, A6K136, B8NLZ3, G0RT93, O15297, O62829, O62830, O75688, O81716, P20650, P34221, P35182, P35813, P35814, P35815, P36982, P36993, P38089, P39966, P40371, P49443, P49444, P49596, P49597, P49598, P93006, Q09172, Q09173, Q0D629, Q0DBU3, Q0DZT4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PPM1E | “down-regulates activity” | PAK1 | dephosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
90 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 79 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 929382 | GRCh37/hg19 17q22(chr17:56780562-57251609)x1 | Pathogenic |
| 931109 | NM_001005207.5(TRIM37):c.2892-2A>T | Likely pathogenic |
SpliceAI
2776 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:58756463:T:G | donor_gain | 1.0000 |
| 17:58756463:T:TG | donor_gain | 1.0000 |
| 17:58955646:CAGT:C | acceptor_loss | 1.0000 |
| 17:58955647:A:AG | acceptor_gain | 1.0000 |
| 17:58955647:AG:A | acceptor_loss | 1.0000 |
| 17:58955648:G:GC | acceptor_gain | 1.0000 |
| 17:58955648:GT:G | acceptor_gain | 1.0000 |
| 17:58955648:GTA:G | acceptor_gain | 1.0000 |
| 17:58955648:GTAA:G | acceptor_gain | 1.0000 |
| 17:58955648:GTAAT:G | acceptor_gain | 1.0000 |
| 17:58955764:GTGG:G | donor_gain | 1.0000 |
| 17:58955765:TGG:T | donor_gain | 1.0000 |
| 17:58955766:GG:G | donor_gain | 1.0000 |
| 17:58955766:GGG:G | donor_gain | 1.0000 |
| 17:58955767:GG:G | donor_gain | 1.0000 |
| 17:58955767:GGT:G | donor_loss | 1.0000 |
| 17:58955768:G:A | donor_loss | 1.0000 |
| 17:58955768:G:GG | donor_gain | 1.0000 |
| 17:58969534:GACA:G | acceptor_loss | 1.0000 |
| 17:58969535:ACAG:A | acceptor_loss | 1.0000 |
| 17:58969536:CA:C | acceptor_loss | 1.0000 |
| 17:58969723:GGGAG:G | donor_gain | 1.0000 |
| 17:58969724:G:GT | donor_gain | 1.0000 |
| 17:58969724:GGAG:G | donor_gain | 1.0000 |
| 17:58969725:G:T | donor_gain | 1.0000 |
| 17:58969725:GAG:G | donor_gain | 1.0000 |
| 17:58969725:GAGG:G | donor_gain | 1.0000 |
| 17:58969726:AGGT:A | donor_loss | 1.0000 |
| 17:58969729:T:A | donor_loss | 1.0000 |
| 17:58980192:TC:T | donor_gain | 1.0000 |
AlphaMissense
4970 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:58756421:G:C | G142R | 1.000 |
| 17:58756452:T:C | L152P | 1.000 |
| 17:58955653:T:C | C157R | 1.000 |
| 17:58955681:C:A | A166D | 1.000 |
| 17:58965736:T:C | L209P | 1.000 |
| 17:58965807:T:C | S233P | 1.000 |
| 17:58965813:C:G | H235D | 1.000 |
| 17:58965816:G:C | A236P | 1.000 |
| 17:58965817:C:A | A236D | 1.000 |
| 17:58965820:T:A | I237N | 1.000 |
| 17:58965824:A:C | K238N | 1.000 |
| 17:58965824:A:T | K238N | 1.000 |
| 17:58965825:A:G | N239D | 1.000 |
| 17:58965826:A:T | N239I | 1.000 |
| 17:58965827:C:A | N239K | 1.000 |
| 17:58965827:C:G | N239K | 1.000 |
| 17:58965831:C:A | R241S | 1.000 |
| 17:58965835:G:C | R242T | 1.000 |
| 17:58965835:G:T | R242M | 1.000 |
| 17:58965836:G:C | R242S | 1.000 |
| 17:58965836:G:T | R242S | 1.000 |
| 17:58965841:T:A | M244K | 1.000 |
| 17:58965841:T:C | M244T | 1.000 |
| 17:58965841:T:G | M244R | 1.000 |
| 17:58965842:G:A | M244I | 1.000 |
| 17:58965842:G:C | M244I | 1.000 |
| 17:58965842:G:T | M244I | 1.000 |
| 17:58965843:G:A | E245K | 1.000 |
| 17:58965844:A:T | E245V | 1.000 |
| 17:58965845:G:C | E245D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002406 (17:58973363 G>C), RS1000045673 (17:58950029 G>T), RS1000050153 (17:58889858 C>T), RS1000050952 (17:58840637 A>G,T), RS1000054671 (17:58779800 C>G), RS1000064733 (17:58924521 A>T), RS1000070570 (17:58877213 A>G), RS1000095617 (17:58924880 A>G), RS1000106949 (17:58833051 C>G), RS1000109107 (17:58974925 C>T), RS1000121081 (17:58806634 G>C), RS1000124139 (17:58866516 C>T), RS1000125657 (17:58893025 A>T), RS1000149980 (17:58789001 C>T), RS1000151726 (17:58772910 C>T)
Disease associations
OMIM: gene MIM:619308 | disease phenotypes: MIM:253250
GenCC curated gene-disease
Mondo (1): mulibrey nanism (MONDO:0009664)
Orphanet (1): Mulibrey nanism (Orphanet:2576)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000098_13 | Cognitive test performance | 5.000000e-06 |
| GCST001980_2 | Circulating myeloperoxidase levels (plasma) | 4.000000e-09 |
| GCST002023_1 | Testicular germ cell tumor | 4.000000e-13 |
| GCST002774_29 | Cognitive function | 3.000000e-07 |
| GCST003264_870 | Post bronchodilator FEV1/FVC ratio | 1.000000e-06 |
| GCST003264_873 | Post bronchodilator FEV1/FVC ratio | 1.000000e-06 |
| GCST005316_216 | Intelligence (MTAG) | 4.000000e-10 |
| GCST006624_31 | Systolic blood pressure | 4.000000e-15 |
| GCST007267_7 | Systolic blood pressure | 4.000000e-13 |
| GCST010002_126 | Refractive error | 7.000000e-42 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003926 | neuropsychological test |
| EFO:0005243 | myeloperoxidase measurement |
| EFO:0004337 | intelligence |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D050336 | Mulibrey Nanism | C05.116.099.343.796; C16.320.240.875 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 5 |
| Estradiol | increases reaction, affects cotreatment, decreases expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| ICG 001 | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Cosmetics | affects cotreatment, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Flame Retardants | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plasticizers | affects cotreatment, decreases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Vanadates | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TF37 | HAP1 PPM1E (-) 1 | Cancer cell line | Male |
| CVCL_TF38 | HAP1 PPM1E (-) 2 | Cancer cell line | Male |
| CVCL_TF39 | HAP1 PPM1E (-) 3 | Cancer cell line | Male |
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): mulibrey nanism, testicular cancer