SET
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Also known as PHAPII2PP2AIPP2A2TAF-IBETAIGAADTAF-I
Summary
SET (SET nuclear proto-oncogene, HGNC:10760) is a protein-coding gene on chromosome 9q34.11, encoding Protein SET (Q01105). Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. It is a selective cancer dependency (DepMap: 11.1% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).
The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 6418 — RefSeq curated summary.
At a glance
- Gene–disease (curated): intellectual disability (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 3
- Clinical variants (ClinVar): 125 total — 22 pathogenic, 15 likely-pathogenic
- Phenotypes (HPO): 41
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer dependency (DepMap): dependent in 11.1% of screened cell lines
- Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_003011
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10760 |
| Approved symbol | SET |
| Name | SET nuclear proto-oncogene |
| Location | 9q34.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PHAPII, 2PP2A, IPP2A2, TAF-IBETA, IGAAD, TAF-I |
| Ensembl gene | ENSG00000119335 |
| Ensembl biotype | protein_coding |
| OMIM | 600960 |
| Entrez | 6418 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000322030, ENST00000372686, ENST00000372688, ENST00000372692, ENST00000409104, ENST00000466009, ENST00000477806, ENST00000480217, ENST00000480536, ENST00000485056, ENST00000685073, ENST00000686568, ENST00000686840, ENST00000691158, ENST00000878517, ENST00000878518, ENST00000921998, ENST00000921999, ENST00000968516
RefSeq mRNA: 5 — MANE Select: NM_003011
NM_001122821, NM_001248000, NM_001248001, NM_001374326, NM_003011
CCDS: CCDS48037, CCDS59149, CCDS59150, CCDS6907
Canonical transcript exons
ENST00000322030 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001052379 | 128693896 | 128694042 |
| ENSE00001243124 | 128689222 | 128689655 |
| ENSE00001921819 | 128694641 | 128696396 |
| ENSE00003488572 | 128693638 | 128693808 |
| ENSE00003513201 | 128692662 | 128692765 |
| ENSE00003548688 | 128691170 | 128691227 |
| ENSE00003555536 | 128691858 | 128692000 |
| ENSE00003597730 | 128692868 | 128692981 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 313.1474 / max 2545.0260, expressed in 1828 samples.
FANTOM5 promoters (14 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98826 | 280.9729 | 1828 |
| 98828 | 7.6702 | 1728 |
| 98827 | 7.2756 | 1711 |
| 98820 | 4.5293 | 1108 |
| 98829 | 3.2502 | 1260 |
| 98823 | 3.1807 | 1251 |
| 98822 | 3.1077 | 832 |
| 98819 | 1.8259 | 861 |
| 98817 | 0.5173 | 247 |
| 98824 | 0.2088 | 96 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 99.60 | gold quality |
| endometrium epithelium | UBERON:0004811 | 99.59 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.58 | gold quality |
| cortical plate | UBERON:0005343 | 99.58 | gold quality |
| embryo | UBERON:0000922 | 99.54 | gold quality |
| ventricular zone | UBERON:0003053 | 99.51 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.21 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.17 | gold quality |
| endometrium | UBERON:0001295 | 99.17 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.16 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.15 | gold quality |
| lymph node | UBERON:0000029 | 99.13 | gold quality |
| cranial nerve II | UBERON:0000941 | 99.10 | gold quality |
| parietal pleura | UBERON:0002400 | 99.08 | gold quality |
| medial globus pallidus | UBERON:0002477 | 99.07 | gold quality |
| corpus callosum | UBERON:0002336 | 99.06 | gold quality |
| tonsil | UBERON:0002372 | 99.03 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.02 | gold quality |
| pleura | UBERON:0000977 | 98.96 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.93 | gold quality |
| upper arm skin | UBERON:0004263 | 98.93 | gold quality |
| monocyte | CL:0000576 | 98.91 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 98.90 | gold quality |
| globus pallidus | UBERON:0001875 | 98.90 | gold quality |
| mononuclear cell | CL:0000842 | 98.87 | gold quality |
| leukocyte | CL:0000738 | 98.86 | gold quality |
| caecum | UBERON:0001153 | 98.86 | gold quality |
| visceral pleura | UBERON:0002401 | 98.86 | gold quality |
| rectum | UBERON:0001052 | 98.84 | gold quality |
| gall bladder | UBERON:0002110 | 98.84 | gold quality |
Single-cell (SCXA)
Detected in 19 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-89232 | yes | 6280.66 |
| E-GEOD-111727 | yes | 1449.83 |
| E-MTAB-10042 | yes | 11.22 |
| E-CURD-122 | yes | 10.53 |
| E-MTAB-10553 | yes | 7.20 |
| E-MTAB-9801 | yes | 6.39 |
| E-MTAB-6379 | no | 4913.79 |
| E-MTAB-10018 | no | 2639.83 |
| E-MTAB-9689 | no | 2231.31 |
| E-MTAB-8271 | no | 2035.38 |
| E-HCAD-13 | no | 1456.09 |
| E-MTAB-8205 | no | 1379.21 |
| E-MTAB-9154 | no | 1246.55 |
| E-MTAB-5061 | no | 1193.80 |
| E-MTAB-6108 | no | 1034.54 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KMT2A, SERTAD1, SPI1, ZNF331
miRNA regulators (miRDB)
155 targeting SET, 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-3613-3P | 100.00 | 76.36 | 7965 |
| 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| 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-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-3912-5P | 99.95 | 66.11 | 925 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
Functional genomics
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
DepMap (CRISPR cell-line fitness): dependent in 11.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 40)
- Our detailed characterization showed that the SET protein formed a complex with Cdk5/p35(nck5a) through its binding to p35(nck5a). (PMID:11741927)
- HMG2 interacts with the nucleosome assembly protein SET and is a target of the cytotoxic T-lymphocyte protease granzyme A. (PMID:11909973)
- role in inhibiting active demethylation of DNA, integrating DNA methylation and transcriptional silencing (PMID:11978794)
- SET protein regulates G(2)/M transition by modulating cyclin B-CDK1 activity. (PMID:12407107)
- this protein and Protein phosphatase 2A regulate androgen production by P450c17. (PMID:12444089)
- SET accomplishes inhibition of proliferation of U937 cells through the induction of the differentiation program, an effect that depends on the presence of its acidic domain. (PMID:14671643)
- Set/TAF-Ibeta and pp32 proteins have roles as transducers of chromatin signaling by integrating chromatin hypoacetylation and transcriptional repression (PMID:15136563)
- protein phosphatase inhibitor-2 is a bifunctional signaling protein with separate domains to inhibit PP1 and directly stimulate Aurora-A kinase (PMID:15173575)
- PTMA associates with SET and is involved in chromatin decondensation. (PMID:15556635)
- PCOTH is involved in growth and survival of prostate cancer cells thorough, in parts, the TAF-Ibeta pathway. (PMID:15930275)
- results suggest that SET is part of both IFN-gamma-mediated and stress-mediated cellular responses and that SET induces cell differentiation via calcium and MAPK/ERK pathways (PMID:15931263)
- the histone chaperone SET regulates CBP-mediated transcription (PMID:16061203)
- in BCR/ABL-transformed cells and CML blast crisis (CML-BC) progenitors, the phosphatase activity of the tumor suppressor PP2A is inhibited by the BCR/ABL-induced expression of the PP2A inhibitor SET (PMID:16286244)
- 4 out of 5 members of the SET complex aare highly expressed in invasive grade 3 epithelial ovarian tumors. (PMID:16823850)
- SET-mediated promoter hypoacetylation is a prerequisite for coactivation of the estrogen-responsive pS2 gene by PRMT1 (PMID:16861234)
- GzmK hydrolyzes the nucleosome assembly protein SET in its recombinant and native forms or in intact cells. Cleavage of SET by GzmK abrogates its nucleosome assembly activity. After GzmK loading, SET rapidly translocate into the nucleus and SET is cleaved (PMID:17008916)
- assembly of early viral chromatin requires both the association of SET/TAF-1beta and the release of protein VII. (PMID:17034827)
- Membrane targeting of SET stimulates cell migration in a Rac1-dependent manner. (PMID:17245428)
- TAF-Ialpha/CAN and TAF-Ibeta/CAN fusion transcripts are generated by chromosome 9q34 deletion in acute myeloid leukemia (PMID:17296573)
- the specific association among SET/TAF-Ibeta/INHAT, core histones, and double-stranded DNA is requisite for histone chaperone activity (PMID:17360516)
- SET and PARP1 remove DEK from chromatin to permit access by the transcription machinery. (PMID:17529993)
- Our results indicate that SET is imported into the nucleus through its association with impalpha3/impbeta, and that localization of SET is important in regulation of neuronal death. (PMID:17608644)
- Impairment of erythroid and megakaryocytic differentiation by a leukemia-associated and t(9;9)-derived fusion gene product, SET/TAF-IBeta-CAN/Nup214. (PMID:17620317)
- Data indicate that interactions between I(2)(PP2A) and WNV capsid result in increased PP2A activity. (PMID:17868381)
- SET expression is essential for suppressing protein phosphatase type 2A phosphatase activity that would otherwise limit NK cell antitumoral and/or antiinflammatory functions by impairing NK cell production of IFN-gamma (PMID:17875674)
- Set/TAF-Ibeta acts as a ligand-activated GR-responsive transcriptional repressor, while Set-Can does not retain physiologic responsiveness to ligand-bound glucocorticoid receptor. (PMID:18096310)
- SET-NUP214 binds in the promoter regions of specific HOXA genes, where it interacts with CRM1 and DOT1L, which may transcriptionally activate specific members of the HOXA cluster. (PMID:18299449)
- SET, a substrate of caspases, was cleaved by acidic cytosolic extract independent of caspase activation (PMID:18374643)
- TSPY and its X-encoded homologue interact with cyclin B but exert contrasting functions on cyclin-dependent kinase 1 activities. (PMID:18591933)
- These studies indicated that the TAF-Ialpha promoter is under the control of Sp1.(TAF-Ialpha ) (PMID:18809386)
- This procedure improved the resolution of the SET/TAF-Ibetacrystals from around 5.5 to 2.3 A without changing the crystallization conditions. (PMID:18931446)
- I2PP2A was identified in vitro and in situ as a ceramide-binding protein, which exhibits stereoisomer specificity and fatty acid chain length preference. (PMID:19028839)
- Cell lines LOUCY and MEGAL express the recently described SET-NUP214 fusion gene. (PMID:19166587)
- Lyn is downstream of Jak2, and Jak2 maintains activated Lyn kinase in CML through the SET-PP2A-Shp1 pathway. (PMID:19234487)
- Decreased expression of microRNA-199b increases protein levels of SET (protein phosphatase 2A inhibitor) in human choriocarcinoma. (PMID:19900756)
- crystals of template-activating factor Ibeta diffracted to 2.7 A resolution and belonged to space group P4(3)2(1)2. (PMID:20693670)
- The results of this study show that the knockdown of SET/TAF-Ibeta by si-RNA induces neuronal cell differentiation, thus implicating SET/TAF-Ibeta as a negative regulator of neuronal development. (PMID:20800572)
- granzyme B gene expression and therefore human NK-cell cytotoxicity can be regulated by the PP2A-SET interplay (PMID:21156847)
- Peptide mimetics of apoE derived from its receptor binding domain residues 130-150 bind to the SET protein, which is a potent physiological inhibitor of protein phosphatase 2A (PP2A). (PMID:21289314)
- SET is an important regulator of chromosome condensation/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly (PMID:21515671)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | setb | ENSDARG00000003920 |
| rattus_norvegicus | Setl2 | ENSRNOG00000069776 |
Paralogs (19): TSPY2 (ENSG00000168757), NAP1L5 (ENSG00000177432), TSPYL6 (ENSG00000178021), TSPYL5 (ENSG00000180543), TSPYL2 (ENSG00000184205), NAP1L3 (ENSG00000186310), NAP1L2 (ENSG00000186462), NAP1L1 (ENSG00000187109), TSPYL4 (ENSG00000187189), TSPYL1 (ENSG00000189241), NAP1L4 (ENSG00000205531), TSPY3 (ENSG00000228927), TSPY8 (ENSG00000229549), SETSIP (ENSG00000230667), TSPY4 (ENSG00000233803), TSPY10 (ENSG00000236424), TSPY9 (ENSG00000238074), TSPY1 (ENSG00000258992), (ENSG00000293164)
Protein
Protein identifiers
Protein SET — Q01105 (reviewed: Q01105)
Alternative names: HLA-DR-associated protein II, Inhibitor of granzyme A-activated DNase, PHAPII, Phosphatase 2A inhibitor I2PP2A, Template-activating factor I
All UniProt accessions (6): A0A0C4DFV9, A0A8I5KS71, A0A8I5KTZ2, A0A8J8YYJ1, Q01105, Q5VXV3
UniProt curated annotations — full annotation on UniProt →
Function. Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. HAT inhibition leads to silencing of HAT-dependent transcription and prevents active demethylation of DNA. Both isoforms stimulate DNA replication of the adenovirus genome complexed with viral core proteins; however, isoform 2 specific activity is higher.
Subunit / interactions. Headphone-shaped homodimer. Isoforms 1 and 2 interact directly with each other and with ANP32A within the tripartite INHAT (inhibitor of acetyltransferases) complex. Isoform 1 and isoform 2 interact also with histones. Isoform 2 is a component of the SET complex, composed of at least ANP32A, APEX1, HMGB2, NME1, SET and TREX1, but not NME2 or TREX2. Within this complex, directly interacts with ANP32A, NME1, HMGB2 and TREX1; the interaction with ANP32A is enhanced after cleavage. Interacts with APBB1, CHTOP, SETBP1, SGO1. (Microbial infection) Interacts with herpes simplex virus 1 VP22.
Subcellular location. Cytoplasm. Cytosol. Endoplasmic reticulum. Nucleus. Nucleoplasm.
Tissue specificity. Widely expressed. Low levels in quiescent cells during serum starvation, contact inhibition or differentiation. Highly expressed in Wilms’ tumor.
Post-translational modifications. Isoform 2 is phosphorylated on Ser-15 and Ser-24. Isoform 2 is acetylated on Lys-11. Some glutamate residues are glycylated by TTLL8. This modification occurs exclusively on glutamate residues and results in a glycine chain on the gamma-carboxyl group. N-terminus of isoform 1 is methylated by METTL11A/NTM1. Mainly trimethylated. Cleaved after Lys-176 by GZMA. The cleavage inhibits its nucleosome assembly activity and disrupts the inhibition on NME1.
Disease relevance. A chromosomal aberration involving SET is found in some cases of acute undifferentiated leukemia (AUL). Translocation t(6;9)(q21;q34.1) with NUP214/CAN. Intellectual developmental disorder, autosomal dominant 58 (MRD58) [MIM:618106] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD58 patients show delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and minor dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. A long alpha helix in the N-terminus mediates dimerization, while the earmuff domain is responsible for core histone and dsDNA binding. The C-terminal acidic domain mediates the inhibition of histone acetyltransferases and is required for the DNA replication stimulatory activity.
Similarity. Belongs to the nucleosome assembly protein (NAP) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q01105-1 | 1, TAF-I alpha | yes |
| Q01105-2 | 2, TAF-I beta | |
| Q01105-3 | 3 | |
| Q01105-4 | 4 |
RefSeq proteins (5): NP_001116293, NP_001234929, NP_001234930, NP_001361255, NP_003002* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002164 | NAP | Family |
| IPR037231 | NAP-like_sf | Homologous_superfamily |
Pfam: PF00956
UniProt features (45 total): modified residue 11, helix 7, region of interest 5, strand 5, sequence variant 4, splice variant 3, turn 3, compositionally biased region 3, initiator methionine 1, chain 1, site 1, cross-link 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7MTO | X-RAY DIFFRACTION | 1.79 |
| 2E50 | X-RAY DIFFRACTION | 2.3 |
| 9I15 | X-RAY DIFFRACTION | 2.47 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01105-F1 | 78.62 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 283–284 (breakpoint for translocation to form set-can oncogene)
Post-translational modifications (12): 2, 7, 28, 63, 68, 146, 150, 172, 154, 11, 15, 24
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-2299718 | Condensation of Prophase Chromosomes |
| R-HSA-450520 | HuR (ELAVL1) binds and stabilizes mRNA |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-450531 | Regulation of mRNA stability by proteins that bind AU-rich elements |
| R-HSA-68875 | Mitotic Prophase |
| R-HSA-68886 | M Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 448 (showing top):
MORF_MTA1, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, MORF_SMC1L1, GCM_MSN, PAL_PRMT5_TARGETS_UP, GCM_NPM1, MORF_UBE2I, MORF_HDAC1, MORF_UBE2N, MORF_RAD21, HSIAO_HOUSEKEEPING_GENES, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, LANG_MYB_FAMILY_TARGETS, MORF_HDAC2, USF_C
GO Biological Process (5): DNA replication (GO:0006260), nucleosome assembly (GO:0006334), nucleosome disassembly (GO:0006337), negative regulation of neuron apoptotic process (GO:0043524), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (6): DNA binding (GO:0003677), chromatin binding (GO:0003682), protein phosphatase inhibitor activity (GO:0004864), protein phosphatase regulator activity (GO:0019888), histone binding (GO:0042393), protein binding (GO:0005515)
GO Cellular Component (9): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), cytosol (GO:0005829), protein-containing complex (GO:0032991), perinuclear region of cytoplasm (GO:0048471)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prophase | 1 |
| Regulation of mRNA stability by proteins that bind AU-rich elements | 1 |
| Metabolism of RNA | 1 |
| M Phase | 1 |
| Cell Cycle, Mitotic | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cytoplasm | 3 |
| nucleosome organization | 2 |
| binding | 2 |
| phosphoprotein phosphatase activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| chromatin organization | 1 |
| protein-DNA complex assembly | 1 |
| protein-DNA complex disassembly | 1 |
| negative regulation of apoptotic process | 1 |
| regulation of neuron apoptotic process | 1 |
| neuron apoptotic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| phosphatase inhibitor activity | 1 |
| protein phosphatase regulator activity | 1 |
| phosphatase regulator activity | 1 |
| protein phosphatase binding | 1 |
| protein binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| intracellular membraneless organelle | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
2214 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SET | ANP32A | P39687 | 991 |
| SET | PPP2CA | P05323 | 898 |
| SET | NME1 | P15531 | 864 |
| SET | GZMA | P12544 | 826 |
| SET | APEX1 | P27695 | 755 |
| SET | SETBP1 | Q9Y6X0 | 688 |
| SET | LGMN | Q99538 | 684 |
| SET | CIP2A | Q8TCG1 | 632 |
| SET | SGO2 | Q562F6 | 595 |
| SET | AGAP2 | Q99490 | 588 |
| SET | DEK | P35659 | 572 |
| SET | KMT2A | Q03164 | 568 |
| SET | HMGB2 | P26583 | 553 |
| SET | H1-0 | P07305 | 540 |
| SET | TAF1 | P21675 | 534 |
IntAct
196 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SET | THAP7 | psi-mi:“MI:0915”(physical association) | 0.810 |
| THAP7 | SET | psi-mi:“MI:0915”(physical association) | 0.810 |
| SET | THAP7 | psi-mi:“MI:0403”(colocalization) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SET | RAC1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| RAC1 | SET | psi-mi:“MI:0915”(physical association) | 0.680 |
| SET | RAC1 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| SET | RAC1 | psi-mi:“MI:0403”(colocalization) | 0.680 |
| FAM111B | SET | psi-mi:“MI:0915”(physical association) | 0.670 |
| REPIN1 | IPO8 | psi-mi:“MI:0914”(association) | 0.640 |
| SET | UBTF | psi-mi:“MI:0915”(physical association) | 0.640 |
| UBTF | SET | psi-mi:“MI:0915”(physical association) | 0.640 |
| UBTF | SET | psi-mi:“MI:0407”(direct interaction) | 0.640 |
| SET | TBP | psi-mi:“MI:0915”(physical association) | 0.630 |
| TBP | SET | psi-mi:“MI:0915”(physical association) | 0.630 |
| SET | TAF1C | psi-mi:“MI:0915”(physical association) | 0.630 |
BioGRID (412): SET (Affinity Capture-MS), SET (Two-hybrid), SET (Two-hybrid), THAP7 (Two-hybrid), FAM111B (Two-hybrid), SET (Reconstituted Complex), THAP7 (Two-hybrid), SET (Co-fractionation), SET (Co-fractionation), VPS72 (Co-fractionation), SET (Affinity Capture-MS), ELAVL1 (Affinity Capture-Western), SET (Affinity Capture-MS), SET (Affinity Capture-MS), SET (Affinity Capture-MS)
ESM2 similar proteins: G3V9R8, O35381, O43423, O60812, O77768, O88978, P07910, P0DME0, P19600, P39687, P49911, P50503, P51122, P97822, Q01105, Q1RMR5, Q28XE2, Q32KP2, Q3SZC6, Q4KLJ8, Q4R3F0, Q5F4A3, Q5RA82, Q5REE1, Q5UAK0, Q5XIE0, Q5ZKT9, Q5ZLF0, Q5ZMN0, Q63945, Q64G17, Q6A1I3, Q6NUW5, Q6P1U7, Q6PAF6, Q7ZUP0, Q7ZY40, Q86X45, Q8AVC1, Q8HY67
Diamond homologs: A0A494C1R9, A2ZX50, A6NKD2, B8AEC1, B8B2R4, B8B4K9, B9FU45, F4JEI8, O19110, O59797, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0DME0, P53997, P78920, Q01105, Q01534, Q0P5N2, Q18240, Q5R5G8, Q5VND6, Q63945, Q69JW2, Q69ZB3, Q70Z17, Q70Z18, Q70Z19, Q7TQI8, Q86VY4, Q8N831, Q8VD63, Q94K07, Q9BE64, Q9CA59, Q9EQU5, Q9H0U9, Q9H2G4
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GZMA | down-regulates | SET | cleavage |
| SET | down-regulates | PPP2CA | binding |
| SET | down-regulates | PPP2CB | binding |
| SETBP1 | up-regulates | SET | binding |
| CLN8 | “down-regulates activity” | SET | binding |
| PIK3CG | “up-regulates activity” | SET | phosphorylation |
| PRKD2 | “down-regulates activity” | SET | phosphorylation |
| SET | down-regulates | NME1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 188 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 |
|---|---|---|---|
| Ovarian tumor domain proteases | 8 | 17.1× | 2e-05 |
| Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells | 5 | 13.7× | 1e-03 |
| Positive epigenetic regulation of rRNA expression | 5 | 13.3× | 1e-03 |
| RAF activation | 5 | 12.9× | 1e-03 |
| RNA Polymerase I Transcription Termination | 5 | 12.6× | 2e-03 |
| Cyclin A/B1/B2 associated events during G2/M transition | 5 | 11.9× | 2e-03 |
| Regulation of TP53 Degradation | 5 | 11.3× | 2e-03 |
| RNA Polymerase I Promoter Clearance | 5 | 11.3× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| response to antibiotic | 5 | 22.2× | 9e-04 |
| positive regulation of miRNA transcription | 6 | 11.0× | 4e-03 |
| regulation of apoptotic process | 12 | 6.3× | 3e-04 |
| DNA damage response | 14 | 4.7× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
125 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 22 |
| Likely pathogenic | 15 |
| Uncertain significance | 44 |
| Likely benign | 19 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1344907 | NM_003011.4(SET):c.458C>A (p.Ser153Ter) | Pathogenic |
| 2499108 | NM_003011.4(SET):c.488_489del (p.Gly163fs) | Pathogenic |
| 3160560 | NM_003011.4(SET):c.452del (p.Pro151fs) | Pathogenic |
| 3317680 | NM_003011.4(SET):c.599del (p.Gly200fs) | Pathogenic |
| 3392539 | NM_003011.4(SET):c.442_443del (p.Ser148fs) | Pathogenic |
| 4540565 | NM_003011.4(SET):c.106_109del (p.Asp36fs) | Pathogenic |
| 4540568 | NM_003011.4(SET):c.77_78del (p.Lys26fs) | Pathogenic |
| 4540569 | NM_003011.4(SET):c.328_332del (p.Val110fs) | Pathogenic |
| 4540570 | NM_003011.4(SET):c.493-3_504del | Pathogenic |
| 4540571 | NM_003011.4(SET):c.644dup (p.Asn215fs) | Pathogenic |
| 4540572 | NM_003011.4(SET):c.639G>A (p.Trp213Ter) | Pathogenic |
| 4540573 | NM_003011.4(SET):c.729_732del (p.Glu243fs) | Pathogenic |
| 4755524 | NM_003011.4(SET):c.493-1G>A | Pathogenic |
| 560208 | NM_003011.4(SET):c.650_651dup (p.Gln218fs) | Pathogenic |
| 560209 | NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer) | Pathogenic |
| 807681 | NM_003011.4(SET):c.418_419del (p.Ser140fs) | Pathogenic |
| 817064 | NM_003011.4(SET):c.185_186del (p.Lys62fs) | Pathogenic |
| 817338 | NM_003011.4(SET):c.78_81del (p.Lys26fs) | Pathogenic |
| 830789 | NC_000009.12:g.(?128683896)(128689655_?)del | Pathogenic |
| 860686 | NM_003011.4(SET):c.663+5G>C | Pathogenic |
| 986988 | NM_003011.4(SET):c.615_619del (p.Glu206fs) | Pathogenic |
| 992875 | NM_003011.4(SET):c.663+1G>C | Pathogenic |
| 1691608 | NM_003011.4(SET):c.263A>G (p.Asn88Ser) | Likely pathogenic |
| 2500283 | NM_003011.4(SET):c.219del (p.Glu73fs) | Likely pathogenic |
| 2505260 | NM_003011.4(SET):c.138dup (p.Glu47Ter) | Likely pathogenic |
| 3254904 | NM_003011.4(SET):c.103_104del (p.His34_Ile35insTer) | Likely pathogenic |
| 4077497 | NM_003011.4(SET):c.193C>T (p.Gln65Ter) | Likely pathogenic |
| 4540567 | NM_003011.4(SET):c.314A>G (p.His105Arg) | Likely pathogenic |
| 4819992 | NM_003011.4(SET):c.707A>G (p.Asp236Gly) | Likely pathogenic |
| 4819995 | NM_003011.4(SET):c.493-3T>A | Likely pathogenic |
SpliceAI
1056 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:128689654:AGGTG:A | donor_loss | 1.0000 |
| 9:128689655:GGTG:G | donor_loss | 1.0000 |
| 9:128689657:T:A | donor_loss | 1.0000 |
| 9:128691166:GCA:G | acceptor_loss | 1.0000 |
| 9:128691167:CA:C | acceptor_loss | 1.0000 |
| 9:128691168:A:AG | acceptor_gain | 1.0000 |
| 9:128691169:G:GA | acceptor_gain | 1.0000 |
| 9:128691169:GA:G | acceptor_gain | 1.0000 |
| 9:128691169:GAA:G | acceptor_gain | 1.0000 |
| 9:128691169:GAAA:G | acceptor_gain | 1.0000 |
| 9:128691169:GAAAA:G | acceptor_gain | 1.0000 |
| 9:128691205:G:GT | donor_gain | 1.0000 |
| 9:128691223:GACAG:G | donor_gain | 1.0000 |
| 9:128691224:ACAG:A | donor_loss | 1.0000 |
| 9:128691226:AGGTA:A | donor_loss | 1.0000 |
| 9:128691227:GGTAA:G | donor_loss | 1.0000 |
| 9:128691228:GTA:G | donor_loss | 1.0000 |
| 9:128691229:T:A | donor_loss | 1.0000 |
| 9:128691847:A:AG | acceptor_gain | 1.0000 |
| 9:128691847:ATTT:A | acceptor_gain | 1.0000 |
| 9:128691848:T:G | acceptor_gain | 1.0000 |
| 9:128691856:A:AG | acceptor_gain | 1.0000 |
| 9:128691857:G:GA | acceptor_gain | 1.0000 |
| 9:128691857:GA:G | acceptor_gain | 1.0000 |
| 9:128691857:GAC:G | acceptor_gain | 1.0000 |
| 9:128691857:GACT:G | acceptor_gain | 1.0000 |
| 9:128691857:GACTT:G | acceptor_gain | 1.0000 |
| 9:128692654:T:TA | acceptor_gain | 1.0000 |
| 9:128692655:G:A | acceptor_gain | 1.0000 |
| 9:128692659:TAGTG:T | acceptor_loss | 1.0000 |
AlphaMissense
1884 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:128691212:A:C | Q52P | 1.000 |
| 9:128691213:A:C | Q52H | 1.000 |
| 9:128691213:A:T | Q52H | 1.000 |
| 9:128691223:G:C | D56H | 1.000 |
| 9:128691224:A:T | D56V | 1.000 |
| 9:128691860:T:C | L58P | 1.000 |
| 9:128691864:T:A | N59K | 1.000 |
| 9:128691864:T:G | N59K | 1.000 |
| 9:128691871:G:C | A62P | 1.000 |
| 9:128691872:C:A | A62D | 1.000 |
| 9:128691884:T:A | I66N | 1.000 |
| 9:128691884:T:C | I66T | 1.000 |
| 9:128691884:T:G | I66S | 1.000 |
| 9:128691887:T:C | L67S | 1.000 |
| 9:128691895:G:A | E70K | 1.000 |
| 9:128691896:A:T | E70V | 1.000 |
| 9:128691897:A:C | E70D | 1.000 |
| 9:128691897:A:T | E70D | 1.000 |
| 9:128691899:A:C | Q71P | 1.000 |
| 9:128691904:T:C | Y73H | 1.000 |
| 9:128691904:T:G | Y73D | 1.000 |
| 9:128691916:C:A | R77S | 1.000 |
| 9:128691917:G:C | R77P | 1.000 |
| 9:128691937:A:T | R84W | 1.000 |
| 9:128691938:G:C | R84T | 1.000 |
| 9:128691938:G:T | R84M | 1.000 |
| 9:128691939:G:C | R84S | 1.000 |
| 9:128691939:G:T | R84S | 1.000 |
| 9:128691967:T:C | F94L | 1.000 |
| 9:128691968:T:C | F94S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000019030 (9:128693270 T>C), RS1000237440 (9:128688698 C>A,T), RS1000769611 (9:128692119 T>C,G), RS1000952604 (9:128681482 T>C), RS1001139496 (9:128684110 C>T), RS1001192486 (9:128689249 G>A,C), RS1001193718 (9:128693046 T>C), RS1001223589 (9:128689335 C>T), RS1001375203 (9:128693256 C>T), RS1001661172 (9:128693440 T>C), RS1002196298 (9:128690035 G>A,C), RS1002230880 (9:128690209 G>A), RS1002328041 (9:128687339 G>A), RS1002546084 (9:128685335 T>A), RS1002621010 (9:128685809 A>C)
Disease associations
OMIM: gene MIM:600960 | disease phenotypes: MIM:618106, MIM:114550
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability, autosomal dominant 58 | Definitive | Autosomal dominant |
| autosomal dominant non-syndromic intellectual disability | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability | Definitive | AD |
Mondo (5): intellectual disability, autosomal dominant 58 (MONDO:0020847), hepatocellular carcinoma (MONDO:0007256), dysgerminoma (MONDO:0003002), intellectual disability (MONDO:0001071), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)
Orphanet (2): Hepatocellular carcinoma (Orphanet:88673), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
41 total (30 of 41 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000154 | Wide mouth |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000297 | Facial hypotonia |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000331 | Short chin |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000400 | Macrotia |
| HP:0000431 | Wide nasal bridge |
| HP:0000455 | Broad nasal tip |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000678 | Dental crowding |
| HP:0000750 | Delayed speech and language development |
| HP:0000954 | Single transverse palmar crease |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001348 | Brisk reflexes |
| HP:0001357 | Plagiocephaly |
| HP:0001382 | Joint hypermobility |
| HP:0001611 | Hypernasal speech |
| HP:0002311 | Incoordination |
| HP:0002465 | Poor speech |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001959_7 | Eating disorders (purging via substances) | 5.000000e-06 |
| GCST002115_14 | Axial length | 6.000000e-06 |
| GCST005951_65 | Body mass index | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005318 | axial length measurement |
| EFO:0004340 | body mass index |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006528 | Carcinoma, Hepatocellular | C04.557.470.200.025.255; C04.588.274.623.160; C06.301.623.160; C06.552.697.160 |
| D004407 | Dysgerminoma | C04.557.465.330.300 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295798 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.52 | IC50 | 30 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178941: Inhibition of SET (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.0300 | uM |
CTD chemical–gene interactions
71 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, affects expression | 4 |
| Cadmium Chloride | increases expression, decreases expression | 3 |
| bisphenol F | increases expression, affects cotreatment, decreases expression | 2 |
| bisphenol S | increases expression, affects cotreatment, decreases expression | 2 |
| Cisplatin | increases response to substance, increases expression | 2 |
| Estradiol | affects localization, affects cotreatment, decreases expression | 2 |
| Lipopolysaccharides | affects expression, affects response to substance, decreases expression, decreases reaction, increases expression | 2 |
| Tretinoin | affects reaction, decreases expression, increases expression, affects expression, affects cotreatment (+1 more) | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| berzosertib | affects localization, affects reaction | 1 |
| FR900359 | affects phosphorylation | 1 |
| 9-hydroxyoctadecadienoic acid | decreases expression | 1 |
| bufotalin | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| titanium dioxide | decreases phosphorylation | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression | 1 |
| trichostatin A | affects cotreatment, increases expression | 1 |
| arsenite | affects localization, affects reaction, increases phosphorylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| leptomycin B | affects localization, affects reaction, decreases reaction | 1 |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | decreases expression | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | affects expression | 1 |
| U 0126 | affects cotreatment, increases cleavage | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118953 | Binding | Binding affinity to SET in human NCI-H358 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1380 | Loucy | Cancer cell line | Female |
| CVCL_1833 | MEGAL | Cancer cell line | Female |
| CVCL_E0WR | Ubigene K-562 SET KO | Cancer cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00168987 | PHASE4 | COMPLETED | Influence of an Oral Nutritional Supplement Rich in Omega-3 Fatty Acids on Functional State and Quality of Life in Malnourished Patients With Gastroenterological Tumors |
| NCT00554905 | PHASE4 | UNKNOWN | Radiofrequency Ablation With or With Transcatheter Arterial Embolization for Hepatocellular Carcinoma |
| NCT00555334 | PHASE4 | UNKNOWN | Nucleoid as an Adjuvant Therapy After Radiofrequency Ablation for Hepatocellular Carcinoma |
| NCT00556803 | PHASE4 | UNKNOWN | TACE as an Adjuvant Therapy After Radiofrequency Ablation (RFA) for Hepatocellular Carcinoma |
| NCT00557024 | PHASE4 | UNKNOWN | Radiotherapy as an Adjuvant Therapy After Radiofrequency Ablation for Hepatocellular Carcinoma |
| NCT00646100 | PHASE4 | COMPLETED | Transarterial Chemoembolization for Unresectable Hepatocellular Carcinoma With Portal Vein Tumor Thrombosis |
| NCT00768157 | PHASE4 | UNKNOWN | Efficacy of Antiviral Therapy After Radical Resection for Hepatitis B Virus-Related Hepatocellular Carcinoma |
| NCT00834860 | PHASE4 | UNKNOWN | Peginterferon Plus Ribavirin for Hepatitis C Patients Concomitant With Hepatocellular Carcinoma |
| NCT01098760 | PHASE4 | COMPLETED | Hepatocellular Carcinoma - Advanced Stage - Sorafenib Trial in Taiwanese Patients |
| NCT01102335 | PHASE4 | UNKNOWN | Synergistic Treatment for Hepatocellular Carcinoma (HCC) Using Transcatheter Arterial Chemoembolization (TACE) With Anti-hepatitis B Virus (Anti-HBV) Therapy |
| NCT01203787 | PHASE4 | COMPLETED | Sorafenib Dose Ramp-Up in Hepatocellular Carcinoma (HCC) |
| NCT01298284 | PHASE4 | UNKNOWN | A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol |
| NCT01332669 | PHASE4 | COMPLETED | Drug-eluting Bead in Hepatocellular Carcinoma |
| NCT01351194 | PHASE4 | UNKNOWN | Radiofrequency Ablation Versus Hepatic Resection for the Treatment of Hepatocellular Carcinomas Smaller Than 2 cm |
| NCT01409499 | PHASE4 | COMPLETED | Palliative Treatments for Patients With Advanced Hepatocellular Carcinoma (HCC) |
| NCT01415063 | PHASE4 | UNKNOWN | Radiofrequency Ablation Combined With Transcatheter Arterial Chemoembolization Versus Radiofrequency Ablation Alone for Recurrent Hepatocellular Carcinoma |
| NCT01438437 | PHASE4 | UNKNOWN | Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis |
| NCT01451658 | PHASE4 | UNKNOWN | A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol (S-HCC) |
| NCT01570075 | PHASE4 | UNKNOWN | Radiofrequency Ablation Versus Liver Resection for Elderly Patients With Hepatocellular Carcinoma (HCC) Within the Milan Criteria |
| NCT01575574 | PHASE4 | COMPLETED | Magnetic Resonance With Gadoxetic Acid for the Diagnosis of Hepatocellular Carcinoma in Patients With Liver Cirrhosis. Evaluation of Its Impact for the Non-invasive Diagnosis |
| NCT01639703 | PHASE4 | COMPLETED | Hepatic Xenetix-CT Perfusion |
| NCT01798160 | PHASE4 | COMPLETED | Selective Internal Radiation Therapy (SIRT) Versus Transarterial Chemoembolisation (TACE) for the Treatment of Hepatocellular Carcinoma (HCC). |
| NCT01806740 | PHASE4 | TERMINATED | DCE-MRI Using Dotarem® in Evaluation of Therapeutic Response to Sorafenib in Patients With Advanced Stage HCC |
| NCT01849588 | PHASE4 | TERMINATED | HCV-RNA Kinetics During Sorafenib for Hepatocellular Carcinoma (HCC) |
| NCT01894269 | PHASE4 | UNKNOWN | Chemoembolization With or Without Antiviral Therapy for Unresectable HBV-related HCC With Low HBV DNA Replication |
| NCT01970748 | PHASE4 | UNKNOWN | Primary Prevention of Patients With Hepatocellular Carcinoma and Concomitant Esophageal Varices |
| NCT01997957 | PHASE4 | UNKNOWN | A RCT of Oral S-1 in Combination With Sequential HAIC of Oxaliplatin After TACE in Patients With Advanced HCC |
| NCT02174575 | PHASE4 | WITHDRAWN | Anesthetic Agents and Acute Kidney Injury After Liver Resection Surgery |
| NCT02253511 | PHASE4 | UNKNOWN | A Prospective Control Study of Cidan Capsule Combined With TACE in Hepatocellular Carcinoma |
| NCT02399033 | PHASE4 | UNKNOWN | Xihuang Capsules Prevention of Recurrence in Patients With Hepatocellular Carcinoma After Hepatectomy |
| NCT02472249 | PHASE4 | COMPLETED | Pharmacological Manipulation of Intrahepatic Arterial Blood Flow in HCC |
| NCT02504983 | PHASE4 | UNKNOWN | Clinical Trial for GALNT14 Genotype - Guided, Sorafenib in Combination With TACE in Hepatocellular Carcinoma |
| NCT02525380 | PHASE4 | UNKNOWN | Safety and Efficacy of Doxorubicin-eluting-bead Embolization in Patients With Advanced Hepatocellular Carcinoma |
| NCT02534961 | PHASE4 | UNKNOWN | Prophylactic Antibiotics Before RFA for HCC |
| NCT02535117 | PHASE4 | UNKNOWN | Laparoscopic Surgery Versus Radiofrequency Ablation for Recurrent HCC |
| NCT02729506 | PHASE4 | UNKNOWN | Transarterial Radioembolization Versus Chemoembolization for the Treatment of Hepatocellular Carcinoma |
| NCT02733809 | PHASE4 | UNKNOWN | Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma |
| NCT02785380 | PHASE4 | NOT_YET_RECRUITING | Laparoscopic Surgery VS RFA for Recurrent HCC |
| NCT02959359 | PHASE4 | WITHDRAWN | DAA in the Risk of Recurrence After Curative Treatment of HCC |
| NCT02961998 | PHASE4 | COMPLETED | Preventive Effect of Celecoxib on Sorafenib-related Hand Foot Syndrome, a Single Center, Randomized Controlled Clinical Trail |
Related Atlas pages
- Associated diseases: intellectual disability, autosomal dominant 58, autosomal dominant non-syndromic intellectual disability, intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant non-syndromic intellectual disability, dysgerminoma, eating disorder, hepatocellular carcinoma, intellectual disability, autosomal dominant 58