ETV6

Protein identityUniProt · HPA

UniProt accession

P41212

Gene

ETV6

Ensembl

ENSG00000139083

Chromosome

12

Canonical length

452 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoli,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

452 residues, UniProt reviewed canonical sequence.

>P41212|ETV6
     1  MSETPAQCSI KQERISYTPP ESPVPSYASS TPLHVPVPRA LRMEEDSIRL PAHLRLQPIY
    61  WSRDDVAQWL KWAENEFSLR PIDSNTFEMN GKALLLLTKE DFRYRSPHSG DVLYELLQHI
   121  LKQRKPRILF SPFFHPGNSI HTQPEVILHQ NHEEDNCVQR TPRPSVDNVH HNPPTIELLH
   181  RSRSPITTNH RPSPDPEQRP LRSPLDNMIR RLSPAERAQG PRPHQENNHQ ESYPLSVSPM
   241  ENNHCPASSE SHPKPSSPRQ ESTRVIQLMP SPIMHPLILN PRHSVDFKQS RLSEDGLHRE
   301  GKPINLSHRE DLAYMNHIMV SVSPPEEHAM PIGRIADCRL LWDYVYQLLS DSRYENFIRW
   361  EDKESKIFRI VDPNGLARLW GNHKNRTNMT YEKMSRALRH YYKLNIIRKE PGQRLLFRFM
   421  KTPDEIMSGR TDRLEHLESQ ELDEQIYQED EC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ETV6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ETV6.

Disease | AllUniProt

Conditions ETV6 is implicated in, by any mechanism.

• Myeloproliferative disorder chronic with eosinophilia (MPE) MIM:131440
• Leukemia, acute myelogenous (AML) MIM:601626
• Thrombocytopenia 5 (THC5) MIM:616216

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 926 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Inborn genetic diseases
• Thrombocytopenia 5
• Thrombocytopenia
• ETV6-related disorder
• Acute myeloid leukemia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.32

gnomAD pLI

0.97

gnomAD missense Z

1.78

DepMap mean gene effect

0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• hematopoietic stem cell proliferation
• mesenchymal cell apoptotic process
• negative regulation of transcription by RNA polymerase II
• neurogenesis
• regulation of transcription by RNA polymerase II
• vitellogenesis

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• protein domain specific binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• cytosol
• nucleolus
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Ets domain
• Pointed domain
• Sterile alpha motif/pointed domain superfamily
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• ETS family
• Ets-domain
• Sterile alpha motif (SAM)/Pointed domain

KeywordsUniProt

• Acetylation
• Chromosomal rearrangement
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Proto-oncogene
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of ETV6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HDAC9
• L3MBTL1
• NFE2L2
• PIN1
• TRAF3