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Aliases & Descriptions for ETV6
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| TEL 1, 2, 3, 5 | | TEL/ABL 2 | | TEL1 3 | | Tel 3 |
| | | Descriptions |
|---|
| ETS translocation variant 6 3 | | ETS-related protein Tel1 3 | | TEL1 oncogene 2 | | ets variant 6 2 | | ets variant gene 6 (TEL oncogene) 1, 2 |
|
| | Search outside databases for aliases for ETV6 genePrevious GC identifers: GC12P011530 GC12P011947 GC12P011703 |
Summaries for ETV6(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ETV6: 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] UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212Function: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'Gene Wiki entry for ETV6 |
Genomic Location for ETV6
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ETV6 gene 
Entrez Gene cytogenetic band: 12p13 Ensembl cytogenetic band: 12p13.2 HGNC cytogenetic band: 12p13ETV6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P011694:
(about GC identifiers)
Start:
|
11,694,055 bp from pter |
End:
|
11,939,603 bp from pter |
Size:
|
245,549 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000012.10 NT_009714.16
| Proteins for ETV6
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212 (See
protein sequence)Recommended Name: Transcription factor ETV6 Size: 452 amino acids; 53000 Da
Subunit: Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL and HDAC9
Subcellular location: Nucleus
PDB structures from and Proteopedia :1JI7 (3D)
 1LKY (3D)
 2DAO (3D)
 2QB0 (3D)
 2QB1 (3D)
 
Secondary accessions: A3QVP6 Q9UMF6 Q9UMF7 Q9UMG0Post-translational modifications:
Phosphorylated1
Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001978.1
ENSEMBL proteins: ENSP00000379658 ENSP00000266427 ENSP00000379656
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ETV6 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ETV6: Assays for ETV6: | Protein
Domains/ Families for ETV6(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P41212
ProtoNet protein and cluster: P41212 1 Blocks protein family: IPB003118 Sterile alpha motif (SAM)/Pointed domain
UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212Similarity: Belongs to the ETS familySimilarity: Contains 1 ETS DNA-binding domainSimilarity: Contains 1 PNT (pointed) domain | Gene Function for ETV6
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001987
Applied Biosystems Silencer® siRNAs for ETV6
Sigma-Aldrich siRNA for ETV6  Sigma-Aldrich shRNA for ETV6  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001987                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001987                                  untagged cDNA clone in CMV expression vector: NM_001987 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001987
UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212Function: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'Genatlas biochemistry entry for ETV6:ETS variant 6,transcriptional repressor,required for hematopoiesis in bone marrow,involved in chronic myelomonocytic leukemia (see CMML) with translocations t(5;12)(q33;p13), t(10;12)(q24;p13);in CML with translocation t(9;12)(q34;p13);in ALL and in B cell precursor ALL with favorable outcome and translocations t(5;12)(q31-q33;p12),t(9;12) (p24;p13),t(12.21)(p13;q22) (see AML1),t(6;12)(q23;p13),(see STL),and in myelodysplasia and myeloproliferative disorders with translocation t(3;12)(q26;p13),(1;12)(p13 or q31;p13) (14;12) (q11;p13) t(12;22) (p13;q11),t(12;15) (p13;q25),t(12;13)(p13-q12),in acute myeloid leukemia with translocation (4;12) (q11-q12;p13) (see CDX2) in congenital fibrosarcoma (CFS),in congenital mesoblastic nephroma and in biphenotypic adult leukemia (BIPL),see MDS1,EVI1,also involved in malignancies with hemizygous deletions11 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Etv6):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ETV6
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for ETV6 
5/57 Interacting proteins for ETV6 (ENSP000002664273 P412121) via UniProtKB, MINT, and/or STRING (see all 57
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006350 | transcription |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | About this table
|
Drugs & Compounds for ETV6(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ETV6 1 Novoseek chemical compound relationship for ETV6 gene
About this table
|
Transcripts for ETV6(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001987
Sigma-Aldrich siRNA for ETV6  Sigma-Aldrich shRNA for ETV6  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001987 REFSEQ mRNAs for ETV6 gene: NM_001987.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001987               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001987                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001987                                  untagged cDNA clone in CMV expression vector: NM_001987  Additional cDNA sequence: AK289441.1 BC020284.1 BC043399.1 BC061911.1 DQ451147.1 EU364772.1 U11732.1 Z35761.1 14 DOTS entries: DT.215338 DT.114998 DT.411164 DT.70104091 DT.121174815 DT.65287167 DT.40131416 DT.75142931 DT.99991732 DT.121175075 DT.40208185 DT.95257518 DT.92063108 DT.97837384 24/225 AceView cDNA sequences (see all 225
):BQ003277 BQ430842 CB243807 BU630424 AA773253 AW663067 BU681757 AI123905 AA928496 BM683130 AI400044 Z40311 BU623106 BX105902 BX097078 N67347 AW027091 AW953495 AA983191 AA347200 AI268890 NM_001987 BU507161 BM967174
highest scoring ESTs for ETV6:AI762695 AA132557 AA132682 AA205732 AA205762 AA262997 AA310270 AA310659 AA311547 AA370643 Unigene Cluster for ETV6: Ets variant 6 Hs.504765 [show with all ESTs]Unigene Representative Sequence: NM_001987
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000396373
ENST00000266427
ENST00000396370
|
Expression for ETV6
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ETV6 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ETV6
1 / 2 / 3 12 probe-sets matching ETV6 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCAAGTGAAC
SOURCE GeneReport for Unigene cluster: Hs.504765
Expression variation in blood from EXPOLDB for ETV6 UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212Tissue specificity: Ubiquitous |
Orthologs for ETV6
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ETV6 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for ETV6
ENSEMBL Gene Tree for ETV6 | Paralogs for ETV6(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ETV6 gene
- ELK42 ETV72
|
SNPs/Variants for ETV6(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ETV6 (up to first 250kb)
|
Disorders & Mutations for ETV6
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 600618 disorders: 601626 UniProtKB/Swiss-Prot: ETV6_HUMAN, P41212
A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML) Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2 Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1 A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2 A chromosomal aberration involving ETV6 may be a cause of myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6 A chromosomal aberration involving ETV6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6 A chromosomal aberration involving ETV6 is a cause of myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2 A chromosomal aberration involving ETV6 is a cause in many instances of chronic myeloproliferative disorder with eosinophilia (MPE) [MIM:131440]. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development A chromosomal aberration involving ETV6 is a cause of acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX510/36 Novoseek disease relationships for ETV6 gene (see all 36
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lymphoblastic leukemia acute childhood |
88.11 |
23 |
9264370 (2), 9373267 (2), 18445843 (1), 18281529 (1) (see all 17) |
| leukemogenesis |
83.78 |
20 |
16038737 (2), 15806161 (1), 18728978 (1), 11157492 (1) (see all 16) |
| lymphoblastic leukemia acute |
83.50 |
28 |
12764377 (2), 16490598 (2), 7795247 (1), 9204978 (1) (see all 24) |
| leukemia |
76.59 |
68 |
17069581 (3), 16643428 (3), 9060558 (3), 8754809 (2) (see all 49) |
| hematologic malignancies |
73.71 |
25 |
9454771 (3), 9523197 (2), 7795247 (1), 11347199 (1) (see all 15) |
| myelodysplastic syndromes |
68.43 |
17 |
18476590 (2), 9171997 (2), 8695816 (2), 16757412 (2) (see all 11) |
| leukemia myelomonocytic chronic |
67.91 |
3 |
9031109 (1), 7761424 (1), 8168137 (1) |
| chromosomal aberrations |
63.87 |
4 |
8695816 (1), 9365838 (1), 10557049 (1) |
| nephroma mesoblastic |
63.13 |
1 |
11743047 (1) |
| t-all |
61.89 |
4 |
9305598 (2), 17972957 (1) |
About this table
1 PharmGKB disease relationship for ETV6 geneAbout this table
Human Genome Epidemiology Navigator: ETV6 (1 document)
|
Medical News for ETV6(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for ETV6 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/291 PubMed articles for ETV6 gene (see all 291
):- Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. (PubMed id 15806161)1, 3, 4 Barjesteh van Waalwijk van Doorn-Khosrovani S.... Delwel R. (2005)
- The human L(3)MBT Polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6). (PubMed id 12588862)1, 3, 4 Boccuni P.... Nimer S.D. (2003)
- Functional regulation of TEL by p38-induced phosphorylation. (PubMed id 12435397)1, 3, 4 Arai H.... Mitani K. (2002)
- Genomic organization of TEL: the human ETS-variant gene 6. (PubMed id 8743990)1, 3, 4 Baens M.... Marynen P. (1996)
- Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. (PubMed id 7761424)1, 3, 4 Golub T.R.... Gilliland D.G. (1995)
- The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. (PubMed id 7780150)1, 3, 4 Romana S.P.... Bernard O.A. (1995)
- Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. (PubMed id 8168137)1, 3, 4 Golub T.R.... Gilliland D.G. (1994)
- Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. (PubMed id 17344859)3, 4 Mullighan C.G.... Downing J.R. (2007)
- Acute lymphoblastic leukemia with TEL-AML1 fusion has lower expression of genes involved in purine metabolism and lower de novo purine synthesis. (PubMed id 15142881)3, 7 Zaza G....Evans W.E. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
|
Search for ETV6
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ETV6
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ETV6
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ETV6(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for ETV6(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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