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ETV6 ets variant 6 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001987 Homo sapiens ets variant 6 (ETV6), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

*Business Day

Related Services

Gene Symbol ETV6
Entrez Gene ID 2120
Full Name ets variant 6
Synonyms TEL, TEL/ABL
General protein information
Preferred Names
transcription factor ETV6
Names
transcription factor ETV6
TEL1 oncogene
ETS-related protein Tel1
ETS translocation variant 6
ets variant gene 6 (TEL oncogene)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12p13

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].
Disorder

MIM: 600618

Leukemia, acute myeloid, somatic, 601626 (3)

mRNA Protein Product Sequence Price Select
NM_001987, 153267458 NP_001978, 4503611 transcription factor ETV6 ORF Sequence $360.00
KEGG
hsa04320Dorso-ventral axis formation
hsa05202Transcriptional misregulation in cancer
WikiPathways
WP410Diurnally regulated genes with circadian orthologs
Homo sapiens (human)ETV6NP_001978.1
Pan troglodytes (chimpanzee)ETV6XP_528737.2
Macaca mulatta (Rhesus monkey)ETV6XP_001083583.1
Canis lupus familiaris (dog)ETV6XP_543812.3
Bos taurus (cattle)ETV6NP_001015514.2
Mus musculus (house mouse)Etv6NP_031987.3
Rattus norvegicus (Norway rat)Etv6NP_001032430.1
Gallus gallus (chicken)ETV6NP_001186202.1
Danio rerio (zebrafish)etv6NP_571907.2
Xenopus (Silurana) tropicalis (western clawed frog)etv6XP_004913130.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIDA
GO:0000122negative regulation of transcription from RNA polymerase II promoterIMP
GO:0006357regulation of transcription from RNA polymerase II promoterIBA
GO:0006366transcription from RNA polymerase II promoterIBA
GO:0030154cell differentiationIBA
Component
IDNameEvidence
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
Function
IDNameEvidence
GO:0000977RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activityIBA
GO:0001227RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcriptionIC
GO:0003700sequence-specific DNA binding transcription factor activityTAS
GO:0005515protein bindingIPI
GO:0019904protein domain specific bindingIPI
GeneCards ETV6
PDB 2QB0, 2QAR, 1LKY, 1JI7, 2DAO, 2QB1
UniProt P41212
Vega OTTHUMG00000168538
MIM 600618
Ensembl ENSG00000139083
HGNC 3495
HPRD 15976

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ETV6 gene?

The ETV6 gene provides instructions for producing a protein that functions as a transcription factor, which means that it attaches (binds) to specific regions of DNA and controls the activity of certain genes. The ETV6 protein is found in the nucleus of cells throughout the body, where it turns off (represses) gene activity. It plays a key role in development before birth and in regulating blood cell formation.

Interactant

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