SPRY3
gene geneOn this page
Also known as HSPRY3
Summary
SPRY3 (sprouty RTK signaling antagonist 3, HGNC:11271) is a protein-coding gene on chromosome Xq28 and Yq12, encoding Protein sprouty homolog 3 (O43610). Inhibits neurite branching, arbor length and neurite complexity.
Involved in negative regulation of MAPK cascade. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol.
Source: NCBI Gene 10251 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 153 total
- MANE Select transcript:
NM_001304990
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11271 |
| Approved symbol | SPRY3 |
| Name | sprouty RTK signaling antagonist 3 |
| Location | Xq28 and Yq12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSPRY3 |
| Ensembl gene | ENSG00000168939 |
| Ensembl biotype | protein_coding |
| OMIM | 300531 |
| Entrez | 10251 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000302805, ENST00000675360, ENST00000676089, ENST00000695325, ENST00000902799, ENST00000902800, ENST00000929615, ENST00000929616
RefSeq mRNA: 5 — MANE Select: NM_001304990
NM_001304990, NM_001394353, NM_001394354, NM_001394355, NM_005840
CCDS: CCDS14769
Canonical transcript exons
ENST00000695325 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003963428 | 155767962 | 155768136 |
| ENSE00003963429 | 155612586 | 155612647 |
| ENSE00003963430 | 155773766 | 155782459 |
Expression profiles
Bgee: expression breadth ubiquitous, 162 present calls, max score 81.29.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0163 / max 41.5144, expressed in 604 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198219 | 1.0163 | 604 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 81.29 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.26 | gold quality |
| cortical plate | UBERON:0005343 | 73.03 | gold quality |
| tibialis anterior | UBERON:0001385 | 71.37 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 70.65 | gold quality |
| cerebellar cortex | UBERON:0002129 | 70.53 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 70.51 | gold quality |
| embryo | UBERON:0000922 | 70.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 70.25 | gold quality |
| cerebellum | UBERON:0002037 | 69.31 | gold quality |
| ileal mucosa | UBERON:0000331 | 68.84 | silver quality |
| adrenal tissue | UBERON:0018303 | 68.12 | gold quality |
| bone marrow cell | CL:0002092 | 67.85 | silver quality |
| ventricular zone | UBERON:0003053 | 67.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 66.77 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 66.06 | gold quality |
| gastrocnemius | UBERON:0001388 | 66.02 | gold quality |
| muscle of leg | UBERON:0001383 | 65.81 | gold quality |
| stromal cell of endometrium | CL:0002255 | 65.74 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 64.50 | gold quality |
| left adrenal gland | UBERON:0001234 | 64.43 | gold quality |
| right adrenal gland | UBERON:0001233 | 64.31 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 64.27 | gold quality |
| colonic epithelium | UBERON:0000397 | 64.05 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 63.92 | gold quality |
| adrenal gland | UBERON:0002369 | 63.63 | gold quality |
| adrenal cortex | UBERON:0001235 | 62.69 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 62.57 | gold quality |
| thoracic aorta | UBERON:0001515 | 61.97 | gold quality |
| deltoid | UBERON:0001476 | 61.91 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.24 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
359 targeting SPRY3, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
Literature-anchored findings (GeneRIF, showing 5)
- Spry 1, 2 and 3 expression was observed in placental tissue from all three trimesters (PMID:15950061)
- the Sprouty/Caveolin-1 interaction modulates signaling in a growth factor- and Sprouty isoform-specific manner (PMID:16877379)
- SPRY3 is a candidate susceptibility locus for autism and related or over-lapping disorders such as ataxia. (PMID:26089202)
- The authors presented the data that Spry3 potentiates the tumorigenic potential of glioblastoma cells. (PMID:31374860)
- Sprouty3, but Not Sprouty1, Expression Is Beneficial for the Malignant Potential of Osteosarcoma Cells. (PMID:34769378)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| rattus_norvegicus | Spry3 | ENSRNOG00000060153 |
| rattus_norvegicus | Spry3-ps1 | ENSRNOG00000064505 |
| drosophila_melanogaster | sty | FBGN0014388 |
Paralogs (3): SPRY2 (ENSG00000136158), SPRY1 (ENSG00000164056), SPRY4 (ENSG00000187678)
Protein
Protein identifiers
Protein sprouty homolog 3 — O43610 (reviewed: O43610)
Alternative names: Sprouty RTK signaling antagonist 3, Sprouty3
All UniProt accessions (1): O43610
UniProt curated annotations — full annotation on UniProt →
Function. Inhibits neurite branching, arbor length and neurite complexity. Inhibits EGF-mediated p42/44 ERK signaling. Negatively regulates the MAPK cascade, resulting in a reduction of extracellular matrix protein accumulation. May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis.
Subunit / interactions. Interacts with TESK1. Interacts with USP11. Interacts with CAV1 (via C-terminus).
Subcellular location. Cytoplasm.
Tissue specificity. Widely expressed; particularly in the fetal tissues. Expressed in the brain with expression the highest in Purkinje cells in the cerebellum (at protein level). Expressed in the myocardium of the heart.
Induction. By FGF signaling. Repressed by microRNA-143-3P, which results in activation of MAPK signaling and promotion of excess accumulation of extracellular matrix. May thereby play a role in myocardial fibrosis.
Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes.
Similarity. Belongs to the sprouty family.
RefSeq proteins (5): NP_001291919, NP_001381282, NP_001381283, NP_001381284, NP_005831 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007875 | Sprouty | Family |
| IPR051192 | Sprouty_domain | Family |
Pfam: PF05210
UniProt features (4 total): chain 1, domain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43610-F1 | 63.71 | 0.21 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 153 (showing top):
GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEUROGENESIS, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_ERBB_SIGNALING_PATHWAY
GO Biological Process (9): nervous system development (GO:0007399), negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037), negative regulation of MAPK cascade (GO:0043409), negative regulation of Ras protein signal transduction (GO:0046580), animal organ development (GO:0048513), negative regulation of ERK1 and ERK2 cascade (GO:0070373), negative regulation of neuron projection arborization (GO:0150013), multicellular organism development (GO:0007275), regulation of signal transduction (GO:0009966)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| anatomical structure development | 2 |
| system development | 1 |
| fibroblast growth factor receptor signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| regulation of fibroblast growth factor receptor signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| negative regulation of intracellular signal transduction | 1 |
| Ras protein signal transduction | 1 |
| regulation of Ras protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| negative regulation of MAPK cascade | 1 |
| ERK1 and ERK2 cascade | 1 |
| regulation of ERK1 and ERK2 cascade | 1 |
| negative regulation of cell projection organization | 1 |
| negative regulation of developmental process | 1 |
| neuron projection arborization | 1 |
| regulation of neuron projection arborization | 1 |
| multicellular organismal process | 1 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
622 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPRY3 | VAMP7 | P51809 | 784 |
| SPRY3 | IL9R | Q01113 | 756 |
| SPRY3 | SPARC | P09486 | 648 |
| SPRY3 | FGF8 | P55075 | 643 |
| SPRY3 | FGF6 | P10767 | 620 |
| SPRY3 | PLCXD1 | Q9NUJ7 | 580 |
| SPRY3 | ASMTL | O95671 | 542 |
| SPRY3 | DHRSX | Q8N5I4 | 541 |
| SPRY3 | FGF18 | O76093 | 529 |
| SPRY3 | FGF20 | Q9NP95 | 528 |
| SPRY3 | TMLHE | Q9NVH6 | 528 |
| SPRY3 | FGF10 | O15520 | 526 |
| SPRY3 | FGF16 | O43320 | 525 |
| SPRY3 | FGF22 | Q9HCT0 | 514 |
| SPRY3 | FGF5 | P12034 | 507 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SPRY3 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | NEK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | LCE3E | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | KPRP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | BEX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | SLC39A7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | LCE1F | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | LCE3D | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | CHRD | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | ZNF587 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | KRT34 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LCE2B | SPRY3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | ZDHHC17 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | CATSPER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | VSNL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | R3HDM2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | LCE3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | CREB5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | LCE1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | LCE1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | AQP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | HOXA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | GNE | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | MAPKBP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HR | SPRY3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | ZNF655 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPRY3 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GPSM3 | SPRY3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (30): SPRY3 (Positive Genetic), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid), SPRY3 (Two-hybrid)
ESM2 similar proteins: A0A1B0GVS7, A2CE83, A2VDU1, A5D992, A8KBE0, O43597, O43609, O43610, P28290, Q02223, Q08AD1, Q08E39, Q14CH0, Q1L0X2, Q2PFN5, Q2TBG9, Q3UUD2, Q4R815, Q5R959, Q5RGQ8, Q5TB30, Q66H35, Q6AYK4, Q6DD45, Q6GPM0, Q6NRB7, Q6P995, Q6PEM6, Q6ZUJ8, Q7ZX27, Q866R9, Q86VY9, Q8BGN6, Q8C3K5, Q8C817, Q8IYD9, Q8N957, Q96HH4, Q9BZD6, Q9C004
Diamond homologs: A2VDU1, A5D992, O43597, O43609, O43610, O44783, Q08E39, Q1L0X2, Q2MJR0, Q2PFN5, Q3C2P8, Q3UUD2, Q5R959, Q5RDN2, Q5Y171, Q6NYK3, Q6P6N5, Q7Z698, Q7Z699, Q866R9, Q924S7, Q924S8, Q9C004, Q9PTL1, Q9PTL2, Q9QXV8, Q9QXV9, Q9WTP2, Q66JG9, P50551, O08719, P50552, P70429, P70460, Q03173, Q2TA49, Q64GL0, Q8N8S7, Q8T4F7, Q5R896
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 27 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 |
|---|---|---|---|
| Formation of the cornified envelope | 8 | 39.0× | 3e-10 |
| Keratinization | 8 | 24.8× | 6e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| keratinization | 7 | 63.0× | 2e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
153 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
412 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:155769530:GATT:G | donor_gain | 1.0000 |
| X:155612787:CCCA:C | donor_loss | 0.9900 |
| X:155612788:CCAC:C | donor_loss | 0.9900 |
| X:155612789:CACCT:C | donor_loss | 0.9900 |
| X:155612790:A:C | donor_loss | 0.9900 |
| X:155612791:CCTG:C | donor_loss | 0.9900 |
| X:155768135:AGGTA:A | donor_loss | 0.9900 |
| X:155768137:G:GA | donor_loss | 0.9900 |
| X:155768138:T:G | donor_loss | 0.9900 |
| X:155768137:G:GG | donor_gain | 0.9700 |
| X:155769480:G:GG | donor_gain | 0.9700 |
| X:155774699:T:TA | donor_gain | 0.9700 |
| X:155774700:A:AA | donor_gain | 0.9700 |
| X:155612474:CA:C | donor_gain | 0.9500 |
| X:155612790:A:AC | donor_gain | 0.9500 |
| X:155612791:C:CC | donor_gain | 0.9500 |
| X:155769496:G:GT | donor_gain | 0.9500 |
| X:155769482:AG:A | donor_gain | 0.9400 |
| X:155769481:T:TA | donor_gain | 0.9300 |
| X:155769529:GGATT:G | donor_gain | 0.9300 |
| X:155769479:A:G | donor_gain | 0.9200 |
| X:155769486:C:G | donor_gain | 0.8900 |
| X:155612522:T:TA | donor_gain | 0.8800 |
| X:155774753:G:GA | donor_gain | 0.8700 |
| X:155773760:TCCTA:T | acceptor_loss | 0.8600 |
| X:155773761:CCTA:C | acceptor_loss | 0.8600 |
| X:155773762:CTA:C | acceptor_loss | 0.8600 |
| X:155773763:TAGGA:T | acceptor_loss | 0.8600 |
| X:155773764:A:C | acceptor_loss | 0.8600 |
| X:155773765:G:GA | acceptor_loss | 0.8600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000029487 (X:155777418 C>A,G,T), RS1000050113 (X:155645623 C>G,T), RS1000149416 (X:155732589 G>A), RS1000163025 (X:155674620 A>G), RS1000175225 (X:155762314 G>C,T), RS1000202744 (X:155703928 G>A,T), RS1000222583 (X:155707907 A>G), RS1000270220 (X:155761864 G>T), RS1000333657 (X:155696747 G>A), RS1000337227 (X:155748111 C>G), RS1000443833 (X:155708307 G>A,C), RS1000447719 (X:155754714 A>G), RS1000480613 (X:155772519 C>T), RS1000495446 (X:155721621 G>A,C,T), RS1000504152 (X:155740521 T>C)
Disease associations
OMIM: gene MIM:300531 | disease phenotypes: MIM:300872
GenCC curated gene-disease
Mondo (2): epsilon-trimethyllysine hydroxylase deficiency (MONDO:0010469), ependymoma (MONDO:0016698)
Orphanet (1): Ependymoma (Orphanet:251636)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003918_2 | Idiopathic osteonecrosis of the femoral head | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001930 | idiopathic osteonecrosis of the femoral head |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D004806 | Ependymoma | C04.557.465.625.600.380.290; C04.557.470.670.380.290; C04.557.580.625.600.380.290 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| Sunitinib | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Particulate Matter | decreases expression | 1 |
Clinical trials (associated diseases)
95 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00517959 | PHASE3 | UNKNOWN | SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors |
| NCT01096368 | PHASE3 | COMPLETED | Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma |
| NCT00003479 | PHASE2 | TERMINATED | Antineoplaston Therapy in Treating Patients With Ependymoma |
| NCT00520936 | PHASE2 | COMPLETED | A Study of Pemetrexed in Children With Recurrent Cancer |
| NCT00840047 | PHASE2 | ACTIVE_NOT_RECRUITING | Methionine PET/CT Studies In Patients With Cancer |
| NCT01088035 | PHASE2 | TERMINATED | Carboplatin as a Radiosensitizer in Treating Childhood Ependymoma |
| NCT01247922 | PHASE2 | TERMINATED | Single-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205 |
| NCT01288235 | PHASE2 | COMPLETED | Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation |
| NCT01295944 | PHASE2 | COMPLETED | Carboplatin and Bevacizumab for Recurrent Ependymoma |
| NCT01356290 | PHASE2 | RECRUITING | Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors |
| NCT01836549 | PHASE2 | TERMINATED | Imetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors |
| NCT02125786 | PHASE2 | ACTIVE_NOT_RECRUITING | A Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma |
| NCT02689336 | PHASE2 | WITHDRAWN | Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors |
| NCT03095248 | PHASE2 | TERMINATED | Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors |
| NCT03155620 | PHASE2 | ACTIVE_NOT_RECRUITING | Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) |
| NCT03173950 | PHASE2 | COMPLETED | Immune Checkpoint Inhibitor Nivolumab in People With Recurrent Select Rare CNS Cancers |
| NCT03194906 | PHASE2 | COMPLETED | Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors |
| NCT03210714 | PHASE2 | ACTIVE_NOT_RECRUITING | Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213652 | PHASE2 | ACTIVE_NOT_RECRUITING | Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial) |
| NCT03213665 | PHASE2 | COMPLETED | Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213678 | PHASE2 | COMPLETED | Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03213704 | PHASE2 | ACTIVE_NOT_RECRUITING | Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) |
| NCT03220035 | PHASE2 | COMPLETED | Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03233204 | PHASE2 | COMPLETED | Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) |
| NCT03526250 | PHASE2 | COMPLETED | Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) |
| NCT03698994 | PHASE2 | ACTIVE_NOT_RECRUITING | Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) |
| NCT03727841 | PHASE2 | TERMINATED | Marizomib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial, and Spinal Cord Ependymoma |
| NCT04049669 | PHASE2 | ACTIVE_NOT_RECRUITING | Pediatric Trial of Indoximod With Chemotherapy and Radiation for Relapsed Brain Tumors or Newly Diagnosed DIPG |
| NCT04195555 | PHASE2 | ACTIVE_NOT_RECRUITING | Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial) |
| NCT04284774 | PHASE2 | ACTIVE_NOT_RECRUITING | Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial |
| NCT04320888 | PHASE2 | ACTIVE_NOT_RECRUITING | Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial |
| NCT04374305 | PHASE2 | RECRUITING | Innovative Trial for Understanding the Impact of Targeted Therapies in NF2-Related Schwannomatosis (INTUITT-NF2) |
| NCT04743661 | PHASE2 | ACTIVE_NOT_RECRUITING | 131I-Omburtamab, in Recurrent Medulloblastoma and Ependymoma |
| NCT06804655 | PHASE2 | NOT_YET_RECRUITING | Pharmacoscopy for Patients With Refractory Primary Brain Tumors |
| NCT07424092 | PHASE2 | RECRUITING | Intratumoral DNX-2401 for High Grade Pediatric Brain Tumors |
| NCT00634231 | PHASE1 | COMPLETED | A Phase I Study of AdV-tk + Prodrug Therapy in Combination With Radiation Therapy for Pediatric Brain Tumors |
| NCT00994071 | PHASE1 | COMPLETED | A Phase I Study of ABT-888, an Oral Inhibitor of Poly(ADP-ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors |
| NCT01171469 | PHASE1 | COMPLETED | Vaccination With Dendritic Cells Loaded With Brain Tumor Stem Cells for Progressive Malignant Brain Tumor |
| NCT01331135 | PHASE1 | COMPLETED | Aflac ST0901 CHOANOME - Sirolimus in Solid Tumors |
| NCT01498783 | PHASE1 | COMPLETED | Phase I Study of 5-Fluorouracil in Children and Young Adults With Recurrent Ependymoma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ependymoma, epsilon-trimethyllysine hydroxylase deficiency