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ETV5 (ETS Variant Transcription Factor 5) is a Protein Coding gene. Diseases associated with ETV5 include Neurofibromatosis, Type Ii and Sigmoid Disease. Among its related pathways are Transcriptional misregulation in cancer and Androgen receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is ETV1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 19443906 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IMP | 15857832 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IMP | 15857832 |
GO:0003677 | DNA binding | TAS | 8152800 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 19443906 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endometrial cancer |
.32
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2 | Transcriptional misregulation in cancer | ||
3 | IL12-mediated signaling events |
Immune response IL-12-induced IFN-gamma production
.31
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4 | Androgen receptor signaling pathway | ||
5 | FOXM1 transcription factor network |
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:0007274 | neuromuscular synaptic transmission | IEA | -- |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0030154 | cell differentiation | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ETV5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ETV5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ETV5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Etv5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Etv5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ETV5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ETV5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ETV5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ETV5 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | etv5a 30 31 |
|
OneToMany | |
etv5b 31 |
|
OneToMany | |||
Dr.11545 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Ets96B 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
780903 | Benign: not provided | 186,080,022(-) | G/C | MISSENSE_VARIANT | |
785072 | Benign: not provided | 186,048,726(-) | C/T | SYNONYMOUS_VARIANT | |
785073 | Benign: not provided | 186,048,773(-) | G/A | SYNONYMOUS_VARIANT | |
785074 | Benign: not provided | 186,048,777(-) | C/T | SYNONYMOUS_VARIANT | |
rs2228269 | - | p.Lys348Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665875 | CNV | deletion | 23128226 |
esv2726328 | CNV | deletion | 23290073 |
esv3563025 | CNV | deletion | 23714750 |
esv3598983 | CNV | loss | 21293372 |
nsv1135923 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurofibromatosis, type ii |
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sigmoid disease |
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endocardium disease |
|
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salivary gland carcinoma |
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beta-lactam allergy |
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