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The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]
ETV7 (ETS Variant Transcription Factor 7) is a Protein Coding gene. Diseases associated with ETV7 include Ewing Sarcoma and Progressive Myoclonus Epilepsy 7. Among its related pathways are Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is ETV6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 11108721 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 11108721 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | TAS,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0042025 | host cell nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional misregulation in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 11108721 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006366 | transcription by RNA polymerase II | TAS | 10828014 |
GO:0009887 | animal organ morphogenesis | TAS | 10828014 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||
SP8: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ETV7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ETV7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ETV7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ETV7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ETV7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ETV7 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | etv7 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Eip74EF 31 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ets-4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721447 | Benign: not provided | 36,371,364(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
787665 | Benign: not provided | 36,369,026(-) | G/A | MISSENSE_VARIANT | |
rs2234079 | - | p.Pro212Leu | |||
rs2234080 | - | p.Ala250Val | |||
rs34306145 | - | p.Gly199Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1651866 | CNV | insertion | 17803354 |
esv2762586 | CNV | gain | 21179565 |
esv8401 | CNV | gain | 19470904 |
nsv1119081 | CNV | deletion | 24896259 |
nsv1150801 | CNV | insertion | 26484159 |
nsv473235 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ewing sarcoma |
|
|
progressive myoclonus epilepsy 7 |
|
|
laurin-sandrow syndrome |
|
|
noonan syndrome 1 |
|
|