PPP4R1
gene geneOn this page
Also known as PP4R1
Summary
PPP4R1 (protein phosphatase 4 regulatory subunit 1, HGNC:9320) is a protein-coding gene on chromosome 18p11.22, encoding Serine/threonine-protein phosphatase 4 regulatory subunit 1 (Q8TF05). Regulatory subunit of serine/threonine-protein phosphatase 4.
This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 9989 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 147 total
- MANE Select transcript:
NM_001042388
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9320 |
| Approved symbol | PPP4R1 |
| Name | protein phosphatase 4 regulatory subunit 1 |
| Location | 18p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PP4R1 |
| Ensembl gene | ENSG00000154845 |
| Ensembl biotype | protein_coding |
| OMIM | 604908 |
| Entrez | 9989 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 16 protein_coding, 9 retained_intron, 9 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay
ENST00000285124, ENST00000400555, ENST00000400556, ENST00000577393, ENST00000577667, ENST00000577779, ENST00000578010, ENST00000578178, ENST00000578329, ENST00000578557, ENST00000578875, ENST00000579415, ENST00000579609, ENST00000579638, ENST00000580182, ENST00000580283, ENST00000580583, ENST00000580745, ENST00000581250, ENST00000581835, ENST00000582240, ENST00000582594, ENST00000582933, ENST00000583092, ENST00000583438, ENST00000583903, ENST00000583988, ENST00000584074, ENST00000584754, ENST00000886291, ENST00000886292, ENST00000886293, ENST00000924156, ENST00000924157, ENST00000962495, ENST00000962496, ENST00000962497, ENST00000962498
RefSeq mRNA: 3 — MANE Select: NM_001042388
NM_001042388, NM_001382562, NM_005134
CCDS: CCDS42412, CCDS42413
Canonical transcript exons
ENST00000400556 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002715633 | 9614478 | 9614559 |
| ENSE00003472228 | 9550278 | 9550398 |
| ENSE00003474614 | 9549197 | 9549338 |
| ENSE00003477022 | 9557221 | 9557382 |
| ENSE00003480924 | 9577064 | 9577191 |
| ENSE00003489746 | 9584721 | 9584828 |
| ENSE00003490023 | 9561980 | 9562075 |
| ENSE00003505456 | 9588711 | 9588853 |
| ENSE00003507063 | 9588089 | 9588235 |
| ENSE00003525121 | 9559419 | 9559604 |
| ENSE00003526742 | 9593768 | 9593874 |
| ENSE00003551135 | 9583117 | 9583275 |
| ENSE00003556376 | 9570157 | 9570683 |
| ENSE00003559214 | 9614226 | 9614270 |
| ENSE00003587675 | 9553322 | 9553422 |
| ENSE00003639572 | 9584515 | 9584580 |
| ENSE00003665821 | 9563378 | 9563550 |
| ENSE00003682470 | 9595018 | 9595153 |
| ENSE00003693738 | 9550052 | 9550186 |
| ENSE00003908734 | 9546794 | 9547952 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 98.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5387 / max 356.7320, expressed in 1813 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171179 | 16.3197 | 1808 |
| 171181 | 1.5509 | 993 |
| 171180 | 1.3017 | 845 |
| 171178 | 0.3665 | 153 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 98.98 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.62 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.44 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.42 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.41 | gold quality |
| gingiva | UBERON:0001828 | 98.37 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.32 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.60 | gold quality |
| visceral pleura | UBERON:0002401 | 97.57 | gold quality |
| male germ cell | CL:0000015 | 97.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.52 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.35 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.35 | gold quality |
| oral cavity | UBERON:0000167 | 97.29 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.24 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.22 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.13 | gold quality |
| ventricular zone | UBERON:0003053 | 97.10 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.07 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.98 | gold quality |
| nasopharynx | UBERON:0001728 | 96.96 | gold quality |
| pleura | UBERON:0000977 | 96.78 | gold quality |
| pancreatic ductal cell | CL:0002079 | 96.77 | gold quality |
| cervix epithelium | UBERON:0004801 | 96.62 | gold quality |
| secondary oocyte | CL:0000655 | 96.60 | gold quality |
| parietal pleura | UBERON:0002400 | 96.60 | gold quality |
| bronchial epithelial cell | CL:0002328 | 96.58 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 96.54 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.48 | gold quality |
| bronchus | UBERON:0002185 | 96.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 15.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
83 targeting PPP4R1, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-8067 | 99.86 | 69.59 | 2260 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-26B-5P | 99.78 | 73.51 | 2305 |
| HSA-MIR-26A-5P | 99.78 | 73.52 | 2303 |
| HSA-MIR-370-5P | 99.78 | 66.81 | 706 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4465 | 99.71 | 72.56 | 2096 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
Literature-anchored findings (GeneRIF, showing 7)
- PP4R1 expression was triggered upon activation and proliferation of primary human T lymphocytes and deficiency for PP4R1 caused sustained and increased IKK activity, T cell hyperactivation, and aberrant NF-kappaB signaling in NF-kappaB-addicted T cell lymphomas (PMID:23084358)
- PP4R1 could mediate the dephosphorylation of TRAF2 Ser11. (PMID:25134449)
- Data identify PP4R1 as a novel target for virus subversion of the host anti-viral response. (PMID:28445980)
- PP4R1 interacts with HMGA2 to promote non-small-cell lung cancer migration and metastasis via activating MAPK/ERK-induced epithelial-mesenchymal transition. (PMID:32077156)
- PP4R1 accelerates the malignant progression of NSCLC via up-regulating HSPA6 expression and HSPA6-mediated ER stress. (PMID:37739270)
- PP4R1 promotes glycolysis and gallbladder cancer progression through facilitating ERK1/2 mediated PKM2 nuclear translocation. (PMID:38301910)
- AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner. (PMID:38424148)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppp4r1 | ENSDARG00000101316 |
| mus_musculus | Ppp4r1 | ENSMUSG00000061950 |
| rattus_norvegicus | Ppp4r1 | ENSRNOG00000013733 |
| drosophila_melanogaster | Pp2A-29B | FBGN0260439 |
| caenorhabditis_elegans | ppfr-1 | WBGENE00008878 |
Paralogs (2): PPP2R1A (ENSG00000105568), PPP2R1B (ENSG00000137713)
Protein
Protein identifiers
Serine/threonine-protein phosphatase 4 regulatory subunit 1 — Q8TF05 (reviewed: Q8TF05)
All UniProt accessions (10): Q8TF05, F8WAJ9, J3KRU1, J3KSB0, J3KSH2, J3KSS1, J3QL26, J3QLA6, J3QQV0, J3QRV2
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. Plays a role in the inhibition of TNF-induced NF-kappa-B activation by regulating the dephosphorylation of TRAF2. (Microbial infection) Participates in merkel polyomavirus-mediated inhibition of NF-kappa-B by bridging viral small tumor antigen with NEMO.
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-PPP4R1. Interacts with HDAC3. (Microbial infection) Interacts with merkel polyomavirus small tumor antigen; this interaction bridges small tumor antigen with NEMO to inhibit NF-kappa-B.
Tissue specificity. Widely expressed with high expression in cultured mesangial cells. Isoform 1 and isoform 2 are expressed in renal tissues.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TF05-1 | 1, PP4Rmeg | yes |
| Q8TF05-2 | 2 |
RefSeq proteins (3): NP_001035847, NP_001369491, NP_005125 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000357 | HEAT | Repeat |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR021133 | HEAT_type_2 | Repeat |
| IPR033461 | WRNPLPNID | Domain |
| IPR051023 | PP2A_Regulatory_Subunit_A | Family |
Pfam: PF02985, PF15017
UniProt features (25 total): repeat 14, sequence variant 4, region of interest 3, chain 1, compositionally biased region 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TF05-F1 | 73.55 | 0.56 |
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 (1): 935
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 170 (showing top):
MODULE_52, MODULE_503, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, MODULE_195, ATGCTGG_MIR338, MODULE_147, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, SESTO_RESPONSE_TO_UV_C5, CCCAGAG_MIR326, IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP, DR3_Q4, MODULE_356, MARSON_BOUND_BY_FOXP3_STIMULATED, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, AGGTGCA_MIR500
GO Biological Process (2): protein phosphorylation (GO:0006468), signal transduction (GO:0007165)
GO Molecular Function (3): protein phosphatase regulator activity (GO:0019888), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), protein phosphatase 4 complex (GO:0030289)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphorylation | 1 |
| protein modification process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| phosphoprotein phosphatase activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| phosphatase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| protein serine/threonine phosphatase complex | 1 |
Protein interactions and networks
STRING
1249 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP4R1 | PPP4C | P33172 | 998 |
| PPP4R1 | PPP4R2 | Q9NY27 | 971 |
| PPP4R1 | PPP4R4 | Q6NUP7 | 795 |
| PPP4R1 | PPP4R3A | Q6IN85 | 785 |
| PPP4R1 | PIM2 | Q9P1W9 | 646 |
| PPP4R1 | COBL | O75128 | 638 |
| PPP4R1 | PPP2CA | P05323 | 622 |
| PPP4R1 | PTPN9 | P43378 | 602 |
| PPP4R1 | PPP6R2 | O75170 | 579 |
| PPP4R1 | CSNK2A1 | P19138 | 575 |
| PPP4R1 | PPP2R1B | P30154 | 573 |
| PPP4R1 | PPP4R3B | Q5MIZ7 | 568 |
| PPP4R1 | PPP6C | O00743 | 531 |
| PPP4R1 | PPP2CB | P11082 | 505 |
| PPP4R1 | CSNK2A2 | P19784 | 496 |
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP4R1 | PPP4C | psi-mi:“MI:0915”(physical association) | 0.930 |
| C1S | C1R | psi-mi:“MI:0914”(association) | 0.900 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2CB | STRN | psi-mi:“MI:0914”(association) | 0.790 |
| KIF1B | YWHAZ | psi-mi:“MI:0914”(association) | 0.740 |
| PPP4C | TCP1 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2CB | CEP43 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP4C | SUPT5H | psi-mi:“MI:0914”(association) | 0.640 |
| RALBP1 | JUN | psi-mi:“MI:0914”(association) | 0.640 |
| CCDC6 | LZTS3 | psi-mi:“MI:0914”(association) | 0.530 |
| PMPCB | AMY1A | psi-mi:“MI:0914”(association) | 0.530 |
| RALBP1 | AP2B1 | psi-mi:“MI:0914”(association) | 0.530 |
| PMPCB | PPP4R3A | psi-mi:“MI:0914”(association) | 0.530 |
| ANKRD22 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP4R1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| PPP4R1 | HDAC3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PPP4R1 | CTNND1 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| SUPT5H | psi-mi:“MI:0914”(association) | 0.350 | |
| RALBP1 | HMGB1P1 | psi-mi:“MI:0914”(association) | 0.350 |
| RALBP1 | ABLIM1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2CA | ENSA | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2CB | ENSA | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (114): PPP4R1 (Two-hybrid), PPP4R1 (Affinity Capture-Western), TRAF2 (Affinity Capture-Western), PPP4R1 (Affinity Capture-MS), PPP4R1 (Affinity Capture-MS), PPP4R1 (Co-fractionation), PPP4R1 (Affinity Capture-MS), PPP4R1 (Affinity Capture-MS), CTNND1 (Affinity Capture-MS), LDHB (Affinity Capture-MS), NDUFB4 (Affinity Capture-MS), PPP2CA (Affinity Capture-MS), PPP2R1A (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), PPP4C (Affinity Capture-MS)
ESM2 similar proteins: A2AFR3, P54198, P70398, P86410, Q08BT5, Q14161, Q148V7, Q14CM0, Q3B7L5, Q3UGM2, Q5R660, Q5RAQ5, Q61666, Q66H91, Q68FF6, Q6DFZ1, Q6IC98, Q6P6Y1, Q6ZPY2, Q6ZWH5, Q76JQ2, Q7TPD0, Q8BHY8, Q8BIK4, Q8BQZ4, Q8CB44, Q8IWV8, Q8K2V1, Q8NFG4, Q8QZS3, Q8TF05, Q8VHE0, Q8VI02, Q8WXG6, Q91W96, Q92538, Q93008, Q96PE3, Q9BSQ5, Q9BZ29
Diamond homologs: G5ECH5, Q8K2V1, Q8TF05, Q8VI02, Q9P1A2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 54 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 |
|---|---|---|---|
| Mitotic Prometaphase | 5 | 9.6× | 3e-03 |
| Signaling by Interleukins | 5 | 8.9× | 3e-03 |
| Cytokine Signaling in Immune system | 6 | 6.8× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
147 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 121 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3695 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:9549335:CAGT:C | acceptor_gain | 1.0000 |
| 18:9550047:CTTA:C | donor_loss | 1.0000 |
| 18:9550050:A:AC | donor_gain | 1.0000 |
| 18:9550050:ACCTG:A | donor_loss | 1.0000 |
| 18:9550051:C:CA | donor_loss | 1.0000 |
| 18:9550051:C:CC | donor_gain | 1.0000 |
| 18:9550051:CCTGG:C | donor_gain | 1.0000 |
| 18:9550074:TGCCG:T | donor_gain | 1.0000 |
| 18:9550182:CTGAC:C | acceptor_gain | 1.0000 |
| 18:9550187:C:CG | acceptor_loss | 1.0000 |
| 18:9550188:T:C | acceptor_loss | 1.0000 |
| 18:9550195:G:C | acceptor_gain | 1.0000 |
| 18:9550195:G:GC | acceptor_gain | 1.0000 |
| 18:9550200:C:CT | acceptor_gain | 1.0000 |
| 18:9550201:A:C | acceptor_gain | 1.0000 |
| 18:9553320:A:AC | donor_gain | 1.0000 |
| 18:9553321:C:CT | donor_gain | 1.0000 |
| 18:9553321:CT:C | donor_gain | 1.0000 |
| 18:9553321:CTCAG:C | donor_gain | 1.0000 |
| 18:9553324:AG:A | donor_gain | 1.0000 |
| 18:9553325:G:C | donor_gain | 1.0000 |
| 18:9553423:C:CC | acceptor_gain | 1.0000 |
| 18:9557216:GTTAC:G | donor_loss | 1.0000 |
| 18:9557218:TACCT:T | donor_loss | 1.0000 |
| 18:9557219:A:C | donor_loss | 1.0000 |
| 18:9557220:C:CA | donor_loss | 1.0000 |
| 18:9557255:AT:A | donor_gain | 1.0000 |
| 18:9557256:T:C | donor_gain | 1.0000 |
| 18:9557256:T:TA | donor_gain | 1.0000 |
| 18:9557378:TTCCA:T | acceptor_gain | 1.0000 |
AlphaMissense
6296 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:9547868:A:T | V925D | 1.000 |
| 18:9550085:C:A | W838C | 1.000 |
| 18:9550085:C:G | W838C | 1.000 |
| 18:9550087:A:G | W838R | 1.000 |
| 18:9550087:A:T | W838R | 1.000 |
| 18:9550297:C:G | R798P | 1.000 |
| 18:9550300:A:T | V797D | 1.000 |
| 18:9550309:A:T | V794D | 1.000 |
| 18:9550315:T:A | D792V | 1.000 |
| 18:9550316:C:G | D792H | 1.000 |
| 18:9550324:A:G | L789P | 1.000 |
| 18:9550393:A:G | L766P | 1.000 |
| 18:9553325:G:T | A763D | 1.000 |
| 18:9553328:A:G | L762P | 1.000 |
| 18:9553337:C:G | R759P | 1.000 |
| 18:9553338:G:C | R759G | 1.000 |
| 18:9553339:A:C | F758L | 1.000 |
| 18:9553339:A:T | F758L | 1.000 |
| 18:9553340:A:C | F758C | 1.000 |
| 18:9553340:A:G | F758S | 1.000 |
| 18:9553341:A:C | F758V | 1.000 |
| 18:9553341:A:G | F758L | 1.000 |
| 18:9553341:A:T | F758I | 1.000 |
| 18:9553343:C:G | R757P | 1.000 |
| 18:9553345:C:A | W756C | 1.000 |
| 18:9553345:C:G | W756C | 1.000 |
| 18:9553346:C:A | W756L | 1.000 |
| 18:9553346:C:G | W756S | 1.000 |
| 18:9553347:A:G | W756R | 1.000 |
| 18:9553347:A:T | W756R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000018787 (18:9590864 G>A), RS1000221050 (18:9584929 G>A,C,T), RS1000234587 (18:9591116 G>A), RS1000406362 (18:9554749 G>A), RS1000434401 (18:9597882 A>C), RS1000455407 (18:9554986 C>T), RS1000479601 (18:9610977 C>A), RS1000520678 (18:9578636 A>G), RS1000557987 (18:9586472 T>C), RS1000585641 (18:9572027 A>G), RS1000682534 (18:9584966 A>G,T), RS1000710645 (18:9579704 C>T), RS1000860540 (18:9578203 T>C), RS1000943686 (18:9558948 G>A,T), RS1000970022 (18:9573352 T>A)
Disease associations
OMIM: gene MIM:604908 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004616_34 | Platelet distribution width | 3.000000e-29 |
| GCST008153_51 | Lean body mass | 9.000000e-06 |
| GCST009391_175 | Metabolite levels | 5.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
| EFO:0004995 | lean body mass |
| EFO:0010488 | glycerol-3-phosphate measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| kojic acid | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | increases oxidation, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Benzophenoneidum | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Endosulfan | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Furaldehyde | decreases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Sodium Chloride | affects cotreatment, decreases expression, affects localization | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TG22 | HAP1 PPP4R1 (-) 1 | Cancer cell line | Male |
| CVCL_TG23 | HAP1 PPP4R1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
75 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.