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ETV4 (ETS Variant Transcription Factor 4) is a Protein Coding gene. Diseases associated with ETV4 include Ewing Sarcoma and Extraosseous Ewing Sarcoma. Among its related pathways are Transcriptional misregulation in cancer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ETV1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 14625302 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 24983502 |
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 | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional misregulation in cancer | ||
2 | IL-2 Pathway |
ErbB2-ErbB3 Heterodimers
.49
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|
3 | RET signaling | ||
4 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0030154 | cell differentiation | IBA | 21873635 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA | 24983502 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - |
ExUns: | 15a | · | 15b |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: | |||
SP11: | |||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ETV4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PEA3 31 |
|
OneToOne | |
ETV4 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | ETV4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Etv4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Etv4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ETV4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ETV4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ETV4 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ETV4 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | etv4 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ets96B 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
732059 | Likely Benign: not provided | 43,528,676(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
732873 | Likely Benign: not provided | 43,533,899(-) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
739778 | Likely Benign: not provided | 43,532,936(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
768888 | Benign: not provided | 43,533,964(-) | G/C | MISSENSE_VARIANT,INTRON_VARIANT | |
777184 | Benign: not provided | 43,545,030(-) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2761959 | CNV | gain | 21179565 |
esv3640625 | CNV | gain | 21293372 |
esv3640630 | CNV | gain | 21293372 |
nsv1060861 | CNV | gain | 25217958 |
nsv1065802 | CNV | gain | 25217958 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv2059 | CNV | insertion | 18451855 |
nsv470588 | CNV | gain | 18288195 |
nsv833453 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ewing sarcoma |
|
|
extraosseous ewing sarcoma |
|
|
askin's tumor |
|
|
breast cancer |
|
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chondrosarcoma, extraskeletal myxoid |
|
|