Entity Details

Primary name ETV1
Entity type gene
Source Source Link

Details

PrimaryID2115
RefseqGeneNG_029795
SymbolETV1
NameETS variant transcription factor 1
Chromosome7
Location7p21.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsETV1_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006366 transcription by RNA polymerase II
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048935 peripheral nervous system neuron development
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
612219 OMIMEwing sarcoma (ES)A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1.