Human Gene ETV7 (ENST00000340181.9_12) from GENCODE V47lift37
  Description: ETS variant transcription factor 7, transcript variant 1 (from RefSeq NM_016135.4)
Gencode Transcript: ENST00000340181.9_12
Gencode Gene: ENSG00000010030.14_15
Transcript (Including UTRs)
   Position: hg19 chr6:36,333,971-36,355,446 Size: 21,476 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr6:36,334,422-36,355,318 Size: 20,897 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:36,333,971-36,355,446)mRNA (may differ from genome)Protein (341 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ETV7_HUMAN
DESCRIPTION: RecName: Full=Transcription factor ETV7; AltName: Full=ETS translocation variant 7; AltName: Full=ETS-related protein Tel2; AltName: Full=Tel-related Ets factor; AltName: Full=Transcription factor Tel-2;
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in hematopoietic tissues.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ETV7
Diseases sorted by gene-association score: ewing sarcoma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.14 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 43.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.10128-0.384 Picture PostScript Text
3' UTR -171.80451-0.381 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000418 - Ets
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
47769 - SAM/Pointed domain

ModBase Predicted Comparative 3D Structure on Q9Y603
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0009887 animal organ morphogenesis
GO:0030154 cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AF218365 - Homo sapiens Ets transcription factor TEL2E (TEL2) mRNA, complete cds.
AF218366 - Homo sapiens Ets transcription factor TEL2F (TEL2) mRNA, complete cds.
AF175387 - Homo sapiens transcription factor ets (TEL2) mRNA, complete cds.
BC035853 - Homo sapiens ets variant 7, mRNA (cDNA clone MGC:46082 IMAGE:5752352), complete cds.
AF147782 - Homo sapiens tel related Ets factor (TREF) mRNA, complete cds.
AJ276205 - Homo sapiens mRNA for TELB protein.
AK026144 - Homo sapiens cDNA: FLJ22491 fis, clone HRC11032, highly similar to AF116509 Homo sapiens Ets transcription factor TEL-2b (TEL-2) mRNA.
AF116508 - Homo sapiens Ets transcription factor TEL-2a (TEL-2) mRNA, complete cds.
AF116509 - Homo sapiens Ets transcription factor TEL-2b (TEL-2) mRNA, complete cds.
AF116510 - Homo sapiens Ets transcription factor TEL-2c (TEL-2) mRNA, complete cds.
AF218235 - Homo sapiens Ets transcription factor Tel-2d mRNA, complete cds.
AK122796 - Homo sapiens cDNA FLJ16366 fis, clone THYMU2034182, highly similar to Transcription factor ETV7.
AK223424 - Homo sapiens mRNA for Ets transcription factor TEL-2b variant, clone: FCC110D04.
JD494885 - Sequence 475909 from Patent EP1572962.
JD263763 - Sequence 244787 from Patent EP1572962.
JD459875 - Sequence 440899 from Patent EP1572962.
AK303829 - Homo sapiens cDNA FLJ53124 complete cds, highly similar to Transcription factor ETV7.
AK301011 - Homo sapiens cDNA FLJ50241 complete cds, highly similar to Transcription factor ETV7.
JD533621 - Sequence 514645 from Patent EP1572962.
JD472032 - Sequence 453056 from Patent EP1572962.
JD447900 - Sequence 428924 from Patent EP1572962.
JD387207 - Sequence 368231 from Patent EP1572962.
JD048197 - Sequence 29221 from Patent EP1572962.
KJ893927 - Synthetic construct Homo sapiens clone ccsbBroadEn_03321 ETV7 gene, encodes complete protein.
EU446843 - Synthetic construct Homo sapiens clone IMAGE:100070230; IMAGE:100012052; FLH257329.01L ets variant gene 7 (TEL2 oncogene) (ETV7) gene, encodes complete protein.
AB463617 - Synthetic construct DNA, clone: pF1KB7677, Homo sapiens ETV7 gene for ets variant gene 7, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KVC2, B4DVB6, B4E1G4, ENST00000340181.1, ENST00000340181.2, ENST00000340181.3, ENST00000340181.4, ENST00000340181.5, ENST00000340181.6, ENST00000340181.7, ENST00000340181.8, ETV7_HUMAN, NM_016135, Q5R3L3, Q5R3L4, Q9NZ65, Q9NZ66, Q9NZ68, Q9NZR8, Q9UNJ7, Q9Y5K4, Q9Y603, Q9Y604, TEL2, TELB, TREF, uc317vpd.1, uc317vpd.2
UCSC ID: ENST00000340181.9_12
RefSeq Accession: NM_016135.4
Protein: Q9Y603 (aka ETV7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.