ETV6
Summary: This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ETS variant 6 | MIM:600618 | Ensembl:ENSG00000139083 | HGNC:HGNC:3495 | PA27909 | 12p13.2 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in ETV6
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | IEA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IC | GO:0001227 | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005829 | cytosol |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0007296 | vitellogenesis |
| BP | IEA | GO:0022008 | neurogenesis |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0071425 | hematopoietic stem cell proliferation |
| BP | IEA | GO:0097152 | mesenchymal cell apoptotic process |
Gene expression in normal tissue: ETV6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ETV6
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| wikipathways | WP410 | Exercise-induced Circadian Regulation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD202 | Curcumin | 2 |
| iGMDRD227 | Fatostatin A | 2 |
| iGMDRD188 | Piperlongumine | 1 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD640 | CAY10618 | 3 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD486 | Tosedostat | 1 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD546 | BMS-754807 | 3 |
| iGMDRD20 | Embelin | 1 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD639 | YK 4-279 | 2 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 2 |
| iGMDRD634 | SCHEMBL2608041 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ETV6
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