EPSTI1
gene geneOn this page
Also known as BRESI1MGC29634
Summary
EPSTI1 (epithelial stromal interaction 1, HGNC:16465) is a protein-coding gene on chromosome 13q14.11, encoding Epithelial-stromal interaction protein 1 (Q96J88). Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation.
The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE).
Source: NCBI Gene 94240 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 96 total
- MANE Select transcript:
NM_033255
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16465 |
| Approved symbol | EPSTI1 |
| Name | epithelial stromal interaction 1 |
| Location | 13q14.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BRESI1, MGC29634 |
| Ensembl gene | ENSG00000133106 |
| Ensembl biotype | protein_coding |
| OMIM | 607441 |
| Entrez | 94240 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 6 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000313624, ENST00000313640, ENST00000398762, ENST00000476830, ENST00000535677, ENST00000536042, ENST00000537828, ENST00000538562, ENST00000540470, ENST00000542706, ENST00000860858, ENST00000944922
RefSeq mRNA: 4 — MANE Select: NM_033255
NM_001002264, NM_001330543, NM_001331228, NM_033255
CCDS: CCDS31964, CCDS81765, CCDS9387
Canonical transcript exons
ENST00000313624 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002294298 | 42991978 | 42992241 |
| ENSE00003483228 | 42953948 | 42954021 |
| ENSE00003559599 | 42970612 | 42970670 |
| ENSE00003580432 | 42895009 | 42895108 |
| ENSE00003600406 | 42886388 | 42888502 |
| ENSE00003611155 | 42963255 | 42963338 |
| ENSE00003644086 | 42969094 | 42969177 |
| ENSE00003646979 | 42964066 | 42964139 |
| ENSE00003656763 | 42917541 | 42917624 |
| ENSE00003662959 | 42926336 | 42926429 |
| ENSE00003668230 | 42900310 | 42900383 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 99.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.3342 / max 1810.1230, expressed in 1407 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137008 | 29.3342 | 1407 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.42 | gold quality |
| secondary oocyte | CL:0000655 | 99.21 | gold quality |
| ileal mucosa | UBERON:0000331 | 95.39 | gold quality |
| monocyte | CL:0000576 | 94.77 | gold quality |
| leukocyte | CL:0000738 | 94.63 | gold quality |
| decidua | UBERON:0002450 | 92.78 | gold quality |
| granulocyte | CL:0000094 | 92.39 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.30 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 91.39 | gold quality |
| jejunal mucosa | UBERON:0000399 | 91.37 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 91.14 | gold quality |
| duodenum | UBERON:0002114 | 90.56 | gold quality |
| amniotic fluid | UBERON:0000173 | 89.31 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.21 | gold quality |
| nasopharynx | UBERON:0001728 | 89.20 | gold quality |
| kidney epithelium | UBERON:0004819 | 88.86 | silver quality |
| colonic epithelium | UBERON:0000397 | 88.79 | gold quality |
| lymph node | UBERON:0000029 | 87.58 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.28 | gold quality |
| gall bladder | UBERON:0002110 | 86.71 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.59 | silver quality |
| bone marrow cell | CL:0002092 | 86.55 | gold quality |
| blood | UBERON:0000178 | 85.95 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 85.60 | silver quality |
| caecum | UBERON:0001153 | 85.50 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.95 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 84.88 | gold quality |
| bone marrow | UBERON:0002371 | 84.52 | gold quality |
| tonsil | UBERON:0002372 | 84.29 | gold quality |
| small intestine | UBERON:0002108 | 83.81 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10662 | yes | 463.33 |
| E-HCAD-6 | yes | 47.66 |
| E-ANND-3 | yes | 7.13 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): KLF8
miRNA regulators (miRDB)
92 targeting EPSTI1, 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-126-5P | 100.00 | 72.71 | 3180 |
| 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-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
Literature-anchored findings (GeneRIF, showing 12)
- These observations implicate EPSTI1 as a hitherto unappreciated regulator of tumor cell properties. (PMID:20133812)
- A novel KLF8 to EPSTI1 to VCP to NF-kappaB signaling mechanism potentially critical for breast cancer invasion and metastasis. (PMID:24096480)
- circEPSTI1,a significantly upregulated circRNA, which is derived from the EPSTI1 (epithelial stromal interaction 1) gene locus, is an independent prognostic marker for triple-negative breast cancer patient survival. (PMID:30083277)
- Data show that showed that circular RNAs (circEPSTI1) and EPSTI1 (epithelial stromal interaction 1) could directly bind to miR-942. (PMID:30887698)
- circEPSTI1 Acts as a ceRNA to Regulate the Progression of Osteosarcoma. (PMID:31702512)
- Elevated EPSTI1 expression in primary Sjogren’s syndrome B cells promoted TLR9 signalling activation and contributed to the abnormal B cell activation, which was promoted by facilitating p65 phosphorylation and activation of NF-kappaB signalling via promoting IkappaBalpha degradation. (PMID:32114510)
- Role of epithelial - Stromal interaction protein-1 expression in breast cancer. (PMID:32769326)
- The circEPSTI1/mir-942-5p/LTBP2 axis regulates the progression of OSCC in the background of OSF via EMT and the PI3K/Akt/mTOR pathway. (PMID:32826876)
- Contrasting functions of the epithelialstromal interaction 1 gene, in human oral and lung squamous cell cancers. (PMID:34738627)
- Knockdown of EPSTI1 alleviates lipopolysaccharide-induced inflammatory injury through regulation of NF-kappaB signaling in a cellular pneumonia model. (PMID:35527663)
- EPSTI1 promotes monocyte adhesion to endothelial cells in vitro via upregulating VCAM-1 and ICAM-1 expression. (PMID:35778487)
- EPSTI1 as an immune biomarker predicts the prognosis of patients with stage III colon cancer. (PMID:36330510)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:194621 | ENSDARG00000074696 |
| danio_rerio | epsti1 | ENSDARG00000094578 |
| mus_musculus | Epsti1 | ENSMUSG00000022014 |
| rattus_norvegicus | Epsti1 | ENSRNOG00000009471 |
Protein
Protein identifiers
Epithelial-stromal interaction protein 1 — Q96J88 (reviewed: Q96J88)
All UniProt accessions (3): Q96J88, F5H4H1, F5H799
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in M1 macrophage polarization and is required for the proper regulation of gene expression during M1 versus M2 macrophage differentiation. Might play a role in RELA/p65 and STAT1 phosphorylation and nuclear localization upon activation of macrophages.
Tissue specificity. Highly expressed in placenta, small intestine, spleen, kidney, thymus, liver, salivary gland and testes. Weakly expressed in breast, skeletal muscle and colon. Highly expressed in breast cancer upon interaction between tumor cells and stromal cells in vitro. Expressed in blood mononuclear cells from patients with systemic lupus erythematosus (SLE).
Induction. Up-regulated in breast carcinomas.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96J88-1 | 1 | yes |
| Q96J88-2 | 2 | |
| Q96J88-3 | 3 |
RefSeq proteins (4): NP_001002264, NP_001317472, NP_001318157, NP_150280* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026185 | EPSTI1 | Family |
UniProt features (9 total): coiled-coil region 2, splice variant 2, sequence variant 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96J88-F1 | 75.49 | 0.47 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9696273 | RND1 GTPase cycle |
MSigDB gene sets: 274 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, IRF7_01, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_UP, ACEVEDO_LIVER_CANCER_UP, ISRE_01, chr13q14, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_8D_UP, YTAAYNGCT_UNKNOWN, CHEN_METABOLIC_SYNDROM_NETWORK, HORIUCHI_WTAP_TARGETS_UP, BOSCO_INTERFERON_INDUCED_ANTIVIRAL_MODULE, CSR_LATE_UP.V1_DN, REACTOME_RHO_GTPASE_CYCLE, GSE14415_FOXP3_KO_NATURAL_TREG_VS_TCONV_DN
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
1042 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EPSTI1 | IFI44L | Q53G44 | 646 |
| EPSTI1 | HERC5 | Q9UII4 | 620 |
| EPSTI1 | CMPK2 | Q5EBM0 | 614 |
| EPSTI1 | LY6E | Q16553 | 592 |
| EPSTI1 | IFIT5 | Q13325 | 588 |
| EPSTI1 | IFI44 | Q8TCB0 | 581 |
| EPSTI1 | USP18 | Q9UMW8 | 575 |
| EPSTI1 | OASL | Q15646 | 564 |
| EPSTI1 | IFIT3 | O14879 | 559 |
| EPSTI1 | IFI6 | P09912 | 553 |
| EPSTI1 | MX1 | P20591 | 541 |
| EPSTI1 | PARP9 | Q8IXQ6 | 531 |
| EPSTI1 | RSAD2 | Q8WXG1 | 522 |
| EPSTI1 | SAMD9L | Q8IVG5 | 520 |
| EPSTI1 | OAS3 | Q9Y6K5 | 507 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EPSTI1 | DDX21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AKT1 | EPSTI1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | AURKA | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | BAG4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | BCAR3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | CASP8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | CDH1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ESR1 | EPSTI1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | FGFR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NOTCH2 | EPSTI1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EPSTI1 | PPM1D | psi-mi:“MI:0915”(physical association) | 0.370 |
| PTPRJ | EPSTI1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RB1CC1 | EPSTI1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL1 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
| EPSTI1 | CST4 | psi-mi:“MI:0914”(association) | 0.350 |
| EPSTI1 | MVK | psi-mi:“MI:0914”(association) | 0.350 |
| EPSTI1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (31): EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), EPSTI1 (Two-hybrid), SERPINA5 (Affinity Capture-MS), SNTG2 (Affinity Capture-MS), CST2 (Affinity Capture-MS)
ESM2 similar proteins: A0MZ67, A1L1K1, A2AVJ5, A5A6J4, B0BM24, M0R3K6, O95990, Q0P4B9, Q28IH8, Q2KI00, Q2KI52, Q2MJV9, Q2NL11, Q32PN7, Q3B820, Q3MHH7, Q3TGF2, Q4KM62, Q4R2Y2, Q4V7W3, Q4V817, Q561Q8, Q561X3, Q5BK43, Q5E9R0, Q5NVP3, Q5RG44, Q5U4F3, Q5XG48, Q62736, Q66KE9, Q6AY14, Q6AYN9, Q6P3G4, Q78TU8, Q7T0S7, Q8CB59, Q8CJ96, Q8K2Q9, Q96J88
Diamond homologs: Q5BK43, Q8VDI1, Q96J88
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2184 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:42900308:ACCT:A | donor_gain | 1.0000 |
| 13:42900309:CCTC:C | donor_gain | 1.0000 |
| 13:42900311:T:TA | donor_gain | 1.0000 |
| 13:42926434:C:CT | acceptor_gain | 1.0000 |
| 13:42926435:A:T | acceptor_gain | 1.0000 |
| 13:42953946:A:AC | donor_gain | 1.0000 |
| 13:42953947:C:CC | donor_gain | 1.0000 |
| 13:42953947:CT:C | donor_gain | 1.0000 |
| 13:42953947:CTA:C | donor_gain | 1.0000 |
| 13:42954028:T:TC | acceptor_gain | 1.0000 |
| 13:42963249:CCTTA:C | donor_loss | 1.0000 |
| 13:42963250:CTTAC:C | donor_loss | 1.0000 |
| 13:42963251:TTACC:T | donor_loss | 1.0000 |
| 13:42963252:TACCT:T | donor_loss | 1.0000 |
| 13:42963253:A:C | donor_loss | 1.0000 |
| 13:42963254:C:G | donor_loss | 1.0000 |
| 13:42963344:T:C | acceptor_gain | 1.0000 |
| 13:42963344:T:TC | acceptor_gain | 1.0000 |
| 13:42963349:T:TC | acceptor_gain | 1.0000 |
| 13:42963355:T:TC | acceptor_gain | 1.0000 |
| 13:42969089:CTTA:C | donor_loss | 1.0000 |
| 13:42969090:TTAC:T | donor_loss | 1.0000 |
| 13:42969091:TA:T | donor_loss | 1.0000 |
| 13:42969093:CCTAG:C | donor_gain | 1.0000 |
| 13:42969175:CAA:C | acceptor_gain | 1.0000 |
| 13:42969178:C:CC | acceptor_gain | 1.0000 |
| 13:42969184:C:CT | acceptor_gain | 1.0000 |
| 13:42969184:C:T | acceptor_gain | 1.0000 |
| 13:42969185:A:T | acceptor_gain | 1.0000 |
| 13:42969188:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
2023 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:42895093:A:C | F288L | 0.981 |
| 13:42895093:A:T | F288L | 0.981 |
| 13:42895095:A:G | F288L | 0.981 |
| 13:42969175:C:G | A84P | 0.969 |
| 13:42964111:T:A | R120S | 0.957 |
| 13:42964111:T:G | R120S | 0.957 |
| 13:42895094:A:G | F288S | 0.948 |
| 13:42969153:A:G | L91P | 0.948 |
| 13:42970628:T:A | R77S | 0.948 |
| 13:42970628:T:G | R77S | 0.948 |
| 13:42964103:T:G | Q123P | 0.931 |
| 13:42895094:A:C | F288C | 0.926 |
| 13:42963273:C:A | K157N | 0.925 |
| 13:42963273:C:G | K157N | 0.925 |
| 13:42969162:A:G | L88P | 0.925 |
| 13:42970632:C:G | R76P | 0.925 |
| 13:42895091:A:G | L289P | 0.918 |
| 13:42964083:A:G | S130P | 0.913 |
| 13:42964091:A:G | L127P | 0.910 |
| 13:42969174:G:T | A84E | 0.910 |
| 13:42963261:T:A | R161S | 0.907 |
| 13:42963261:T:G | R161S | 0.907 |
| 13:42895085:C:G | R291P | 0.903 |
| 13:42969145:A:G | W94R | 0.903 |
| 13:42969145:A:T | W94R | 0.903 |
| 13:42969140:C:A | K95N | 0.901 |
| 13:42969140:C:G | K95N | 0.901 |
| 13:42963293:C:G | A151P | 0.900 |
| 13:42963302:C:G | A148P | 0.900 |
| 13:42969143:C:A | W94C | 0.900 |
dbSNP variants (sampled 300 via entrez): RS1000016425 (13:42929308 T>C,G), RS1000037264 (13:42954835 G>A,C), RS1000040097 (13:42939991 C>T), RS1000047337 (13:42968048 G>T), RS1000069547 (13:42936233 C>G), RS1000073632 (13:42982128 T>C), RS1000096752 (13:42979048 G>A,T), RS1000116889 (13:42892247 C>T), RS1000138881 (13:42980493 G>A), RS1000148323 (13:42933564 C>G), RS1000196283 (13:42965058 C>T), RS1000210447 (13:42904720 CA>C), RS1000212743 (13:42916780 A>C), RS1000223606 (13:42957164 G>A,C), RS1000229557 (13:42947329 C>T)
Disease associations
OMIM: gene MIM:607441 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_498 | Obesity-related traits | 7.000000e-07 |
| GCST005758_4 | Dimensional psychopathology (Arousal) | 1.000000e-06 |
| GCST006304_12 | Irritable bowel syndrome | 3.000000e-06 |
| GCST006979_1103 | Heel bone mineral density | 4.000000e-12 |
| GCST008358_2 | Response to cognitive-behavioural therapy in anxiety and major depressive disorders | 5.000000e-06 |
| GCST009442_4 | Age-related cognitive decline (executive function) (slope of z-scores) | 4.000000e-06 |
| GCST009734_8 | Severe aplastic anemia | 8.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004344 | birth weight |
| EFO:0009099 | arousal domain measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0007710 | cognitive decline measurement |
| EFO:0006927 | severe aplastic anemia |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 7 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| bisphenol A | increases methylation, decreases expression | 2 |
| potassium chromate(VI) | decreases expression, affects cotreatment | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| sodium arsenite | affects expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| M-VAC protocol | decreases response to substance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| dinophysistoxin 1 | decreases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Calcitriol | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Chenodeoxycholic Acid | affects cotreatment, increases expression | 1 |
| Demecolcine | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1F8 | Abcam A-549 EPSTI1 KO 2 | Cancer cell line | Male |
| CVCL_B2MR | Abcam A-549 EPSTI1 KO 1 | Cancer cell line | Male |
| CVCL_E1W6 | HAP1 EPSTI1 (-) 2 | Cancer cell line | Male |
| CVCL_E1W7 | HAP1 EPSTI1 (-) 3 | Cancer cell line | Male |
| CVCL_XN49 | HAP1 EPSTI1 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): irritable bowel syndrome