ETV3
gene geneOn this page
Also known as PE-1
Summary
ETV3 (ETS variant transcription factor 3, HGNC:3492) is a protein-coding gene on chromosome 1q23.1, encoding ETS translocation variant 3 (P41162). Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Source: NCBI Gene 2117 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 70 total
- Transcription factor: yes — 14 downstream targets (CollecTRI)
- MANE Select transcript:
NM_001145312
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3492 |
| Approved symbol | ETV3 |
| Name | ETS variant transcription factor 3 |
| Location | 1q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PE-1 |
| Ensembl gene | ENSG00000117036 |
| Ensembl biotype | protein_coding |
| OMIM | 164873 |
| Entrez | 2117 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000326786, ENST00000368192, ENST00000460850
RefSeq mRNA: 2 — MANE Select: NM_001145312
NM_001145312, NM_005240
CCDS: CCDS1164, CCDS44250
Canonical transcript exons
ENST00000368192 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000788872 | 157135471 | 157135708 |
| ENSE00000904829 | 157134112 | 157134227 |
| ENSE00001249474 | 157121191 | 157125979 |
| ENSE00001446530 | 157138316 | 157138395 |
| ENSE00003648571 | 157136307 | 157136365 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1051 / max 551.3671, expressed in 1795 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15259 | 10.4244 | 1731 |
| 15260 | 3.9981 | 1637 |
| 15261 | 1.3982 | 744 |
| 15262 | 0.1103 | 41 |
| 15263 | 0.1100 | 28 |
| 15264 | 0.0643 | 14 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| upper arm skin | UBERON:0004263 | 97.28 | gold quality |
| upper leg skin | UBERON:0004262 | 96.70 | gold quality |
| skin of hip | UBERON:0001554 | 95.70 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.82 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.48 | gold quality |
| gingiva | UBERON:0001828 | 94.47 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.86 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.10 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.75 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 92.54 | silver quality |
| cauda epididymis | UBERON:0004360 | 92.51 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.29 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.03 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.02 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.92 | gold quality |
| caput epididymis | UBERON:0004358 | 91.85 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.78 | silver quality |
| parietal pleura | UBERON:0002400 | 91.48 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 91.42 | gold quality |
| mammary duct | UBERON:0001765 | 91.39 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.36 | gold quality |
| mammalian vulva | UBERON:0000997 | 90.91 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 90.49 | gold quality |
| oral cavity | UBERON:0000167 | 90.48 | gold quality |
| visceral pleura | UBERON:0002401 | 90.40 | gold quality |
| penis | UBERON:0000989 | 90.32 | gold quality |
| colonic mucosa | UBERON:0000317 | 90.24 | gold quality |
| zone of skin | UBERON:0000014 | 90.21 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.10 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.80 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8498 | yes | 1088.89 |
| E-ANND-3 | yes | 9.77 |
| E-MTAB-2983 | no | 431.65 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
14 targets.
| Target | Regulation |
|---|---|
| AP1 | |
| CAT | |
| CDK1 | Repression |
| DDX20 | Repression |
| DUSP6 | Repression |
| ERF | |
| ETV3 | Repression |
| FGF2 | |
| KRAS | |
| MMP1 | Unknown |
| MYB | Repression |
| MYC | Repression |
| NFKB1 | Repression |
| RELA | Repression |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0763.1 | ETV3 | Ets-related |
| MA0763.2 | ETV3 | Ets-related |
JASPAR matrix evidence (PMIDs): PMID:20517297
Upstream regulators (CollecTRI, top): CREB1, CREM, ETV3, STAT3
miRNA regulators (miRDB)
63 targeting ETV3, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-609 | 99.82 | 64.26 | 505 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
Literature-anchored findings (GeneRIF, showing 6)
- PE-1/METS is an antiproliferative Ets repressor factor induced by CREB-1/CREM-1 during macrophage differentiation (PMID:14754893)
- Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS. (PMID:17525531)
- The ETV3 expression was strongly induced by the STAT3 pathway regulated by IL-10 but not by STAT3 signaling activated by IL-6, which cannot activate the anti-inflammatory signaling pathway. (PMID:18025162)
- Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypes. (PMID:23329352)
- Case Reports/Review: indeterminate dendritic cell tumor lacking the ETV3-NCOA2 translocation. (PMID:29877893)
- ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment. (PMID:36543959)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Etv3 | ENSMUSG00000003382 |
| rattus_norvegicus | Etv3 | ENSRNOG00000043095 |
Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Protein
Protein identifiers
ETS translocation variant 3 — P41162 (reviewed: P41162)
Alternative names: ETS domain transcriptional repressor PE1, Mitogenic Ets transcriptional suppressor
All UniProt accessions (1): P41162
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity.
Subcellular location. Nucleus.
Similarity. Belongs to the ETS family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P41162-1 | 1, Long | yes |
| P41162-2 | 2, Short |
RefSeq proteins (2): NP_001138784, NP_005231 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178
UniProt features (16 total): modified residue 4, compositionally biased region 4, cross-link 2, splice variant 2, region of interest 2, chain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P41162-F1 | 56.10 | 0.17 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 315, 388, 381, 388, 139, 159
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 230 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, WANG_CLIM2_TARGETS_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_RESPONSE_TO_PEPTIDE, AREB6_01, MORF_ESR1, NKX62_Q2, AAACCAC_MIR140, FOSTER_TOLERANT_MACROPHAGE_UP, MODULE_123, MORF_ETV3, MODULE_88, BIOCARTA_ETS_PATHWAY, MAF_Q6, MODULE_113
GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of cell population proliferation (GO:0008285), cell differentiation (GO:0030154), cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011), negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DEAD/H-box RNA helicase binding (GO:0017151), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase II transcription repressor complex (GO:0090571), transcription repressor complex (GO:0017053)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription cis-regulatory region binding | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| negative regulation of cellular process | 1 |
| cellular developmental process | 1 |
| cellular response to cytokine stimulus | 1 |
| response to granulocyte macrophage colony-stimulating factor | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| enzyme binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| transcription regulator activity | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| transcription repressor complex | 1 |
| nuclear protein-containing complex | 1 |
| transcription regulator complex | 1 |
Protein interactions and networks
STRING
596 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ETV3 | FOXL2 | P58012 | 643 |
| ETV3 | DDX20 | Q9UHI6 | 625 |
| ETV3 | NCOA2 | Q15596 | 558 |
| ETV3 | GEMIN2 | O14893 | 544 |
| ETV3 | ETV5 | P41161 | 538 |
| ETV3 | SBNO2 | Q9Y2G9 | 512 |
| ETV3 | IRF8 | Q02556 | 504 |
| ETV3 | GEMIN4 | P57678 | 497 |
| ETV3 | MYC | P01106 | 468 |
| ETV3 | NR5A1 | Q13285 | 438 |
| ETV3 | FOXD1 | Q16676 | 410 |
| ETV3 | HIVEP1 | P15822 | 394 |
| ETV3 | EBF1 | Q9UH73 | 393 |
| ETV3 | AGO2 | Q9UKV8 | 385 |
| ETV3 | ETV6 | P41212 | 385 |
IntAct
72 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RCCD1 | SPAG9 | psi-mi:“MI:0914”(association) | 0.640 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| HSPB8 | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| TRAK2 | OGT | psi-mi:“MI:0914”(association) | 0.530 |
| ANGPTL7 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ETV3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| CCL2 | ETV3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| XCL1 | ETV3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ETV3 | NSD3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM4 | DDX11L8 | psi-mi:“MI:0914”(association) | 0.350 |
| PROZ | ARVCF | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB11 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| CSN1S1 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPK1 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| SOX2 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| ETV3 | XPOT | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| BSCL2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| THSD4 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM106A | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| PCDHB11 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| PROZ | MAP2K7 | psi-mi:“MI:0914”(association) | 0.350 |
| TBL1Y | HDAC3 | psi-mi:“MI:0914”(association) | 0.350 |
| OLFM4 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| CSN1S1 | TIMP3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (143): ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Reconstituted Complex), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-RNA), ETV3 (Affinity Capture-MS), ETV3 (Affinity Capture-MS)
ESM2 similar proteins: A1YF15, A1YG91, A2D4Z7, A2T762, A9ZPC9, C0LZJ1, O00409, O42261, P08651, P21999, P23767, P28324, P31258, P31629, P41162, P41970, P41971, P48437, P59667, P70056, P70284, P85119, Q00900, Q12951, Q1LY77, Q28G71, Q28GC4, Q29131, Q33BP8, Q3BJS3, Q499D0, Q61602, Q6DIB4, Q8CGW4, Q8R4Z4, Q8VII8, Q90655, Q90YI8, Q90ZH8, Q91018
Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MAPK1 | “down-regulates activity” | ETV3 | phosphorylation |
| ETV3 | “down-regulates quantity by repression” | ETV3 | “transcriptional regulation” |
| ETV3 | “down-regulates quantity by repression” | DDX20 | “transcriptional regulation” |
| ETV3 | “down-regulates quantity by repression” | DUSP6 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
827 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:157124834:T:TA | donor_gain | 1.0000 |
| 1:157134105:ATCTT:A | donor_loss | 1.0000 |
| 1:157134107:CTTAC:C | donor_loss | 1.0000 |
| 1:157134108:TTACC:T | donor_loss | 1.0000 |
| 1:157134110:A:AC | donor_gain | 1.0000 |
| 1:157134110:ACCAC:A | donor_loss | 1.0000 |
| 1:157134111:C:CC | donor_gain | 1.0000 |
| 1:157134111:CCA:C | donor_gain | 1.0000 |
| 1:157134116:TG:T | donor_gain | 1.0000 |
| 1:157134223:AGTAT:A | acceptor_gain | 1.0000 |
| 1:157134224:GTAT:G | acceptor_gain | 1.0000 |
| 1:157134224:GTATC:G | acceptor_loss | 1.0000 |
| 1:157134225:TAT:T | acceptor_gain | 1.0000 |
| 1:157134226:AT:A | acceptor_gain | 1.0000 |
| 1:157134227:TC:T | acceptor_loss | 1.0000 |
| 1:157134228:C:CC | acceptor_gain | 1.0000 |
| 1:157134228:CTGT:C | acceptor_loss | 1.0000 |
| 1:157134229:T:A | acceptor_loss | 1.0000 |
| 1:157135465:CCTTA:C | donor_loss | 1.0000 |
| 1:157135466:CTTAC:C | donor_loss | 1.0000 |
| 1:157135467:TTAC:T | donor_loss | 1.0000 |
| 1:157135468:TACC:T | donor_loss | 1.0000 |
| 1:157135469:A:AC | donor_gain | 1.0000 |
| 1:157135470:C:CC | donor_gain | 1.0000 |
| 1:157135714:A:C | acceptor_gain | 1.0000 |
| 1:157136295:A:C | donor_gain | 1.0000 |
| 1:157138312:TCAC:T | donor_loss | 1.0000 |
| 1:157138314:A:AC | donor_gain | 1.0000 |
| 1:157138315:C:CG | donor_gain | 1.0000 |
| 1:157138315:CCT:C | donor_gain | 1.0000 |
AlphaMissense
3347 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:157134167:A:C | F115L | 1.000 |
| 1:157134167:A:T | F115L | 1.000 |
| 1:157134168:A:C | F115C | 1.000 |
| 1:157134168:A:G | F115S | 1.000 |
| 1:157134169:A:C | F115V | 1.000 |
| 1:157134169:A:G | F115L | 1.000 |
| 1:157134169:A:T | F115I | 1.000 |
| 1:157134175:A:C | Y113D | 1.000 |
| 1:157134175:A:G | Y113H | 1.000 |
| 1:157134175:A:T | Y113N | 1.000 |
| 1:157134179:A:C | F111L | 1.000 |
| 1:157134179:A:T | F111L | 1.000 |
| 1:157134180:A:C | F111C | 1.000 |
| 1:157134180:A:G | F111S | 1.000 |
| 1:157134181:A:C | F111V | 1.000 |
| 1:157134181:A:G | F111L | 1.000 |
| 1:157134181:A:T | F111I | 1.000 |
| 1:157134182:T:A | R110S | 1.000 |
| 1:157134182:T:G | R110S | 1.000 |
| 1:157134189:C:T | G108E | 1.000 |
| 1:157134190:C:G | G108R | 1.000 |
| 1:157134190:C:T | G108R | 1.000 |
| 1:157134197:T:A | K105N | 1.000 |
| 1:157134197:T:G | K105N | 1.000 |
| 1:157134198:T:A | K105I | 1.000 |
| 1:157134198:T:G | K105T | 1.000 |
| 1:157134199:T:C | K105E | 1.000 |
| 1:157134199:T:G | K105Q | 1.000 |
| 1:157134204:A:C | L103R | 1.000 |
| 1:157134204:A:G | L103P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000148307 (1:157138258 G>A,T), RS1000194380 (1:157121374 C>T), RS1000276881 (1:157132273 T>C), RS1000422932 (1:157124335 C>T), RS1000586929 (1:157123846 A>G), RS1000678395 (1:157133374 G>A,C), RS1000900571 (1:157133070 A>G), RS1001106804 (1:157138733 G>A,C), RS1001114952 (1:157136671 T>C,G), RS1001192805 (1:157126418 T>C), RS1001318092 (1:157138521 T>C,G), RS1001489802 (1:157132669 G>A), RS1001599677 (1:157124765 C>A,G,T), RS1001638476 (1:157121765 T>C), RS1001679604 (1:157127543 T>C)
Disease associations
OMIM: gene MIM:164873 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000253_11 | Attention deficit hyperactivity disorder and conduct disorder | 8.000000e-06 |
| GCST011956_52 | Systemic lupus erythematosus | 7.000000e-16 |
| GCST012286_1 | Hepatitis B virus-related hepatocellular carcinoma vs hepatitis B virus-related decompensated cirrhosis | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008505 | hepatitis virus-related hepatocellular carcinoma |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases mutagenesis | 2 |
| Lipopolysaccharides | decreases reaction, increases expression, affects response to substance, affects cotreatment | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| bisphenol A | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| coenzyme Q10 | decreases reaction, increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | increases expression, affects cotreatment | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| gardiquimod | increases expression, decreases reaction | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1N4 | SEES3-1V human ETV3, clone1 | Embryonic stem cell | Male |
| CVCL_A1N5 | SEES3-1V human ETV3, clone2 | Embryonic stem cell | Male |
| CVCL_A1N6 | SEES3-1V human ETV3, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): conduct disorder