PPP1R3F
gene geneOn this page
Also known as Hb2E
Summary
PPP1R3F (protein phosphatase 1 regulatory subunit 3F, HGNC:14944) is a protein-coding gene on chromosome Xp11.23, encoding Protein phosphatase 1 regulatory subunit 3F (Q6ZSY5). Glycogen-targeting subunit for protein phosphatase 1 (PP1).
This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 89801 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 161 total — 1 likely-pathogenic
- MANE Select transcript:
NM_033215
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14944 |
| Approved symbol | PPP1R3F |
| Name | protein phosphatase 1 regulatory subunit 3F |
| Location | Xp11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Hb2E |
| Ensembl gene | ENSG00000049769 |
| Ensembl biotype | protein_coding |
| OMIM | 301104 |
| Entrez | 89801 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay
ENST00000055335, ENST00000376188, ENST00000466508, ENST00000471261, ENST00000495799, ENST00000652102, ENST00000942558
RefSeq mRNA: 2 — MANE Select: NM_033215
NM_001184745, NM_033215
CCDS: CCDS35254, CCDS55415
Canonical transcript exons
ENST00000055335 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001409812 | 49269793 | 49270873 |
| ENSE00001469646 | 49285834 | 49288090 |
| ENSE00001469664 | 49281981 | 49282063 |
| ENSE00003637153 | 49281406 | 49281461 |
Expression profiles
Bgee: expression breadth ubiquitous, 221 present calls, max score 94.91.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.6307 / max 29.7496, expressed in 1263 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196330 | 1.2853 | 794 |
| 196331 | 1.0790 | 637 |
| 196332 | 0.2664 | 120 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 94.91 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.62 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.51 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.02 | gold quality |
| frontal cortex | UBERON:0001870 | 90.61 | gold quality |
| neocortex | UBERON:0001950 | 90.30 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.86 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.86 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.52 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.47 | gold quality |
| apex of heart | UBERON:0002098 | 89.40 | gold quality |
| pons | UBERON:0000988 | 89.39 | gold quality |
| cerebellum | UBERON:0002037 | 89.12 | gold quality |
| amygdala | UBERON:0001876 | 89.00 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.84 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.64 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.46 | gold quality |
| hypothalamus | UBERON:0001898 | 88.42 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 88.35 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.15 | silver quality |
| spinal cord | UBERON:0002240 | 87.96 | gold quality |
| muscle of leg | UBERON:0001383 | 87.80 | gold quality |
| nucleus accumbens | UBERON:0001882 | 87.80 | gold quality |
| brain | UBERON:0000955 | 87.58 | gold quality |
| forebrain | UBERON:0001890 | 87.56 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.55 | gold quality |
| upper arm skin | UBERON:0004263 | 87.38 | silver quality |
| occipital lobe | UBERON:0002021 | 87.37 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
46 targeting PPP1R3F, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-6830-5P | 99.01 | 68.73 | 1884 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-326 | 98.25 | 66.44 | 1565 |
| HSA-MIR-561-5P | 98.25 | 68.13 | 1365 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-211-3P | 98.14 | 66.77 | 1052 |
| HSA-MIR-4518 | 98.12 | 66.82 | 1030 |
Literature-anchored findings (GeneRIF, showing 3)
- Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk. (PMID:34145793)
- Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. (PMID:37531237)
- Maps this gene as HB2E at the DXS9823E marker sequence. (PMID:8938429)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ppp1r3f | ENSMUSG00000039556 |
| rattus_norvegicus | Ppp1r3f | ENSRNOG00000068767 |
| drosophila_melanogaster | Gbs-70E | FBGN0036428 |
| caenorhabditis_elegans | WBGENE00019211 |
Paralogs (6): PPP1R3C (ENSG00000119938), PPP1R3D (ENSG00000132825), PPP1R3A (ENSG00000154415), PPP1R3B (ENSG00000173281), PPP1R3G (ENSG00000219607), PPP1R3E (ENSG00000235194)
Protein
Protein identifiers
Protein phosphatase 1 regulatory subunit 3F — Q6ZSY5 (reviewed: Q6ZSY5)
All UniProt accessions (3): A0A494C178, Q6ZSY5, H7C546
UniProt curated annotations — full annotation on UniProt →
Function. Glycogen-targeting subunit for protein phosphatase 1 (PP1).
Subcellular location. Membrane.
Tissue specificity. Expressed in brain, skeletal muscle and heart.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZSY5-1 | 1 | yes |
| Q6ZSY5-2 | 2 |
RefSeq proteins (2): NP_001171674, NP_149992* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005036 | CBM21_dom | Domain |
| IPR038175 | CBM21_dom_sf | Homologous_superfamily |
| IPR050782 | PP1_regulatory_subunit_3 | Family |
Pfam: PF03370
UniProt features (27 total): modified residue 7, region of interest 6, compositionally biased region 3, topological domain 2, splice variant 2, sequence variant 2, chain 1, short sequence motif 1, transmembrane region 1, sequence conflict 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZSY5-F1 | 49.88 | 0.10 |
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 (7): 14, 18, 420, 421, 547, 589, 594
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 111 (showing top):
GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_2NM_DN, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_REGULATION_OF_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_REGULATION_OF_GLYCOGEN_METABOLIC_PROCESS, GOBP_REGULATION_OF_CARBOHYDRATE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_POLYSACCHARIDE_METABOLIC_PROCESS, CCCAGAG_MIR326, GOBP_REGULATION_OF_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOCC_PROTEIN_PHOSPHATASE_TYPE_1_COMPLEX, ZHENG_BOUND_BY_FOXP3
GO Biological Process (2): regulation of glycogen biosynthetic process (GO:0005979), regulation of glycogen (starch) synthase activity (GO:2000465)
GO Molecular Function (4): protein phosphatase 1 binding (GO:0008157), protein phosphatase binding (GO:0019903), glycogen binding (GO:2001069), protein binding (GO:0005515)
GO Cellular Component (2): protein phosphatase type 1 complex (GO:0000164), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glycogen biosynthetic process | 1 |
| regulation of glucan biosynthetic process | 1 |
| regulation of glycogen metabolic process | 1 |
| alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity | 1 |
| regulation of transferase activity | 1 |
| protein phosphatase binding | 1 |
| phosphatase binding | 1 |
| polysaccharide binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| protein serine/threonine phosphatase complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
614 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPP1R3F | GAGE10 | A6NGK3 | 572 |
| PPP1R3F | NBDY | A0A0U1RRE5 | 514 |
| PPP1R3F | PPP1R3E | Q9H7J1 | 433 |
| PPP1R3F | GAGE12H | A6NDE8 | 419 |
| PPP1R3F | WDR13 | Q9H1Z4 | 404 |
| PPP1R3F | ACBD4 | Q8NC06 | 385 |
| PPP1R3F | PPP1R3A | Q16821 | 381 |
| PPP1R3F | FAM156A | Q8NDB6 | 369 |
| PPP1R3F | PPP1R3B | Q86XI6 | 322 |
| PPP1R3F | ZNF697 | Q5TEC3 | 306 |
| PPP1R3F | LGALS16 | A8MUM7 | 300 |
| PPP1R3F | SPACA5B | Q96QH8 | 300 |
| PPP1R3F | ZNF182 | P17025 | 291 |
| PPP1R3F | ACBD5 | Q5T8D3 | 291 |
| PPP1R3F | EFHC2 | Q5JST6 | 290 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR5 | KMT2D | psi-mi:“MI:0914”(association) | 0.910 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.740 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| GYG2 | GYS1 | psi-mi:“MI:0914”(association) | 0.660 |
| DYRK1B | BMAL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R3F | AGTR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP1R3F | GPR35 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP1R3F | HTR2B | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP1R3F | PTGER4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PPP1CC | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| WDR5 | KDM6A | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1B | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| TLK2 | IGKV1D-13 | psi-mi:“MI:0914”(association) | 0.350 |
| CHD8 | IGLV4-60 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| PYGB | GYG2 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | SIPA1L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (27): PPP1R3F (Affinity Capture-MS), PPP1R3F (Affinity Capture-MS), PPP1R3F (Affinity Capture-MS), PPP1R3F (Affinity Capture-MS), PPP1R3F (Affinity Capture-MS), PPP1R3F (Affinity Capture-MS), PPP1R3F (Proximity Label-MS), PPP1R3F (Proximity Label-MS), PPP1R3F (Two-hybrid), PPP1R3F (Two-hybrid), PPP1R3F (Two-hybrid), PPP1R3F (Two-hybrid), PPP1R3F (Reconstituted Complex), PPP1R3F (Affinity Capture-RNA), PPP1R3F (Affinity Capture-MS)
ESM2 similar proteins: A2VE02, A4D1S0, A6NEL2, B2RU40, C9JH25, D4A9R4, E7EW31, O43593, O94850, O95196, O95873, P0DPE3, P60669, Q1HCM0, Q2M3G4, Q3UPH7, Q5BK39, Q5FWE3, Q5JPB2, Q5M844, Q5RCQ2, Q5U2P6, Q5VZ46, Q5XJV6, Q64322, Q6P1B3, Q6PE13, Q6UWD8, Q6ZSY5, Q76NI1, Q7Z591, Q8BZW2, Q8C708, Q8IWN7, Q8IYJ0, Q8NAV2, Q8NC74, Q8TER5, Q924A2, Q95K74
Diamond homologs: B7ZBB8, O95685, P0C7L8, Q00756, Q6DDQ5, Q6GL23, Q6IN01, Q6ZSY5, Q7TMB3, Q86XI6, Q8BRJ4, Q8C767, Q99MR9, Q9CW07, Q9H7J1, Q9JIG4, Q9VVY3, A6QNP3, Q16821, Q28E28, Q5BL87, Q6GQ68, Q6P950, Q803M0, Q9UQK1, T1SFR8, Q0VCR4, P40036, Q5U2R5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
161 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 121 |
| Likely benign | 21 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4686600 | NM_033215.5(PPP1R3F):c.1257dup (p.Ser420fs) | Likely pathogenic |
SpliceAI
727 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:49281400:CTGCA:C | acceptor_loss | 1.0000 |
| X:49281401:TGCAG:T | acceptor_loss | 1.0000 |
| X:49281402:GCAGG:G | acceptor_loss | 1.0000 |
| X:49281403:CAG:C | acceptor_loss | 1.0000 |
| X:49281404:A:AG | acceptor_gain | 1.0000 |
| X:49281404:A:G | acceptor_loss | 1.0000 |
| X:49281405:G:GG | acceptor_gain | 1.0000 |
| X:49281405:GGCCT:G | acceptor_gain | 1.0000 |
| X:49281460:GG:G | donor_gain | 1.0000 |
| X:49281461:GG:G | donor_gain | 1.0000 |
| X:49281462:G:GG | donor_gain | 1.0000 |
| X:49281980:GCA:G | acceptor_gain | 1.0000 |
| X:49281980:GCAGA:G | acceptor_gain | 1.0000 |
| X:49277331:GCC:G | donor_gain | 0.9900 |
| X:49281396:T:A | acceptor_gain | 0.9900 |
| X:49281404:AG:A | acceptor_gain | 0.9900 |
| X:49281405:GG:G | acceptor_gain | 0.9900 |
| X:49281405:GGC:G | acceptor_gain | 0.9900 |
| X:49281405:GGCC:G | acceptor_gain | 0.9900 |
| X:49281457:CATGG:C | donor_gain | 0.9900 |
| X:49281458:ATGG:A | donor_gain | 0.9900 |
| X:49281459:TGG:T | donor_gain | 0.9900 |
| X:49281460:GGG:G | donor_gain | 0.9900 |
| X:49281975:CTCTA:C | acceptor_loss | 0.9900 |
| X:49281976:TCTAG:T | acceptor_loss | 0.9900 |
| X:49281977:CTAG:C | acceptor_loss | 0.9900 |
| X:49281978:TA:T | acceptor_loss | 0.9900 |
| X:49281979:A:AG | acceptor_gain | 0.9900 |
| X:49281979:AG:A | acceptor_loss | 0.9900 |
| X:49281980:G:GA | acceptor_gain | 0.9900 |
AlphaMissense
5090 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:49270651:T:C | F261S | 0.999 |
| X:49270717:T:A | V283D | 0.998 |
| X:49270596:T:C | F243L | 0.997 |
| X:49270597:T:C | F243S | 0.997 |
| X:49270598:T:A | F243L | 0.997 |
| X:49270598:T:G | F243L | 0.997 |
| X:49270603:T:C | F245S | 0.997 |
| X:49286348:T:G | I553S | 0.997 |
| X:49270433:G:C | W188C | 0.996 |
| X:49270433:G:T | W188C | 0.996 |
| X:49286164:T:G | Y492D | 0.996 |
| X:49286348:T:C | I553T | 0.996 |
| X:49270431:T:A | W188R | 0.995 |
| X:49270431:T:C | W188R | 0.995 |
| X:49270662:T:G | Y265D | 0.995 |
| X:49286153:T:C | L488P | 0.995 |
| X:49286177:T:C | L496P | 0.995 |
| X:49270392:T:C | F175L | 0.994 |
| X:49270394:C:A | F175L | 0.994 |
| X:49270394:C:G | F175L | 0.994 |
| X:49270602:T:C | F245L | 0.994 |
| X:49270604:C:A | F245L | 0.994 |
| X:49270604:C:G | F245L | 0.994 |
| X:49270660:G:C | R264P | 0.994 |
| X:49270683:T:C | F272L | 0.994 |
| X:49270685:C:A | F272L | 0.994 |
| X:49270685:C:G | F272L | 0.994 |
| X:49270686:T:A | W273R | 0.994 |
| X:49270686:T:C | W273R | 0.994 |
| X:49270688:G:C | W273C | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000512240 (X:49279876 C>A), RS1000584959 (X:49288739 G>A,T), RS1000851017 (X:49296169 T>G), RS1001002971 (X:49272154 T>C), RS1001069848 (X:49271850 G>A), RS1001196081 (X:49299262 C>A,T), RS1001334784 (X:49273926 G>A), RS1002203737 (X:49291294 C>A,G,T), RS1002588247 (X:49292692 G>C), RS1003044144 (X:49275555 T>G), RS1003148674 (X:49284006 T>A), RS1003169868 (X:49269326 C>T), RS1003350446 (X:49277423 C>G), RS1003381497 (X:49277203 T>C), RS1004229729 (X:49285687 A>G)
Disease associations
OMIM: gene MIM:301104 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Strong | X-linked |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007798_116 | Asthma | 7.000000e-11 |
| GCST007800_88 | Asthma (childhood onset) | 6.000000e-10 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Acrylamide | increases 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_TF84 | HAP1 PPP1R3F (-) 1 | Cancer cell line | Male |
| CVCL_TF85 | HAP1 PPP1R3F (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
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Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neurodevelopmental disorder