Homo sapiens Gene: ETV6
Summary
InnateDB Gene IDBG-19967.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETV6
Gene Name ets variant 6
Synonyms TEL; TEL/ABL;
Species Homo sapiens
Ensembl Gene ENSG00000139083
Encoded Proteins
ets variant 6
ets variant 6
ets variant 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:11649854-11895402
Strand Forward strand
Band p13.2
Transcripts
ENST00000266427 ENSP00000266427
ENST00000396373 ENSP00000379658
ENST00000541426
ENST00000544715
ENST00000545027 ENSP00000441463
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
Experimentally validated
Total 43 [view]
Protein-Protein 43 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 15 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Dorso-ventral axis formation pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P41212
TrEMBL Q9UME7
UniProt Splice Variant
Entrez Gene 2120
UniGene Hs.504765
RefSeq NM_001987
HUGO HGNC:3495
OMIM 600618
CCDS CCDS8643
HPRD 15976
IMGT
EMBL AK289441 BC043399 CH471094 DQ841178 U11732 U61375 U63312 U63313 U81834
GenPept AAA19786 AAB17134 AAB17135 AAB39882 AAC50690 AAH43399 ABI30005 BAF82130 EAW96240
RNA Seq Atlas 2120