Details for: ETV6

Gene ID: 2120

Symbol: ETV6

Ensembl ID: ENSG00000139083

Description: ETS variant transcription factor 6

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 4.63
    Marker Score: 3,213
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 4.47
    Marker Score: 3,580
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 4.24
    Marker Score: 1,531
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.75
    Marker Score: 3,330
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.34
    Marker Score: 7,322
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 3.05
    Marker Score: 1,517
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 3
    Marker Score: 1,623
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.99
    Marker Score: 861
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.76
    Marker Score: 2,386
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.7
    Marker Score: 1,575
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.41
    Marker Score: 4,644
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.37
    Marker Score: 2,687
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.36
    Marker Score: 747
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.26
    Marker Score: 1,347
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.25
    Marker Score: 39,887
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.23
    Marker Score: 3,236
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.22
    Marker Score: 81,919
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.19
    Marker Score: 1,801
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.18
    Marker Score: 46,495
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.17
    Marker Score: 2,393
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.02
    Marker Score: 2,715
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.99
    Marker Score: 44,390
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.97
    Marker Score: 1,096
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.96
    Marker Score: 1,865
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.9
    Marker Score: 484
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.84
    Marker Score: 861
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.84
    Marker Score: 1,209
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.82
    Marker Score: 890
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.82
    Marker Score: 569
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.79
    Marker Score: 523
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 1.78
    Marker Score: 447
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.78
    Marker Score: 1,909
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.77
    Marker Score: 3,609
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.72
    Marker Score: 1,006
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.72
    Marker Score: 554
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.72
    Marker Score: 7,180
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.7
    Marker Score: 3,017
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.7
    Marker Score: 2,055
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.7
    Marker Score: 33,814
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.69
    Marker Score: 1,301
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.69
    Marker Score: 14,489
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.67
    Marker Score: 26,767
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.67
    Marker Score: 822
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.66
    Marker Score: 15,649
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.64
    Marker Score: 922
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.64
    Marker Score: 12,558
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.64
    Marker Score: 1,883
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.6
    Marker Score: 605
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.59
    Marker Score: 15,128
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.59
    Marker Score: 1,716
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.58
    Marker Score: 2,327
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.56
    Marker Score: 1,351
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.56
    Marker Score: 3,549
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.55
    Marker Score: 529
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.54
    Marker Score: 94,886
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.54
    Marker Score: 559
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.52
    Marker Score: 6,318
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 1.47
    Marker Score: 411
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.47
    Marker Score: 2,671
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.46
    Marker Score: 2,253
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.46
    Marker Score: 1,055
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 1.45
    Marker Score: 1,516
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.44
    Marker Score: 701
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.43
    Marker Score: 453
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.43
    Marker Score: 1,666
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.42
    Marker Score: 2,601
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.42
    Marker Score: 1,756
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.41
    Marker Score: 285
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.41
    Marker Score: 958
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.4
    Marker Score: 3,301
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.39
    Marker Score: 520
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.36
    Marker Score: 392
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.35
    Marker Score: 1,639
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.35
    Marker Score: 954
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.35
    Marker Score: 75,509
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.35
    Marker Score: 472
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.35
    Marker Score: 5,619
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.34
    Marker Score: 1,672
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.34
    Marker Score: 896
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.34
    Marker Score: 7,008
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.33
    Marker Score: 1,878
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.31
    Marker Score: 20,491
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.31
    Marker Score: 4,494
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.28
    Marker Score: 9,521
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 1.27
    Marker Score: 335
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.27
    Marker Score: 469
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.26
    Marker Score: 4,661
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.25
    Marker Score: 2,106
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.25
    Marker Score: 750
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.24
    Marker Score: 2,930
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.23
    Marker Score: 18,408
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.23
    Marker Score: 848
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.22
    Marker Score: 12,398
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.22
    Marker Score: 10,609
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.22
    Marker Score: 445
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.21
    Marker Score: 333
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.21
    Marker Score: 822
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.2
    Marker Score: 485
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.2
    Marker Score: 2,274
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.19
    Marker Score: 414

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcription Factor Function:** ETV6 is a transcription factor that regulates gene expression by binding to specific DNA sequences and influencing the activity of RNA polymerase II. 2. **Cell Type Specificity:** ETV6 is expressed in various cell types, including epithelial cells, immune cells, and hematopoietic stem cells, suggesting its importance in different cellular processes. 3. **Signaling Pathways:** ETV6 is involved in multiple signaling pathways, including Flt3 signaling, PDGFR signaling, and neurogenesis, which regulate cell proliferation, differentiation, and survival. 4. **Protein Binding:** ETV6 interacts with various proteins, including PDGFR, Flt3, and other transcription factors, to modulate gene expression and cellular processes. **Pathways and Functions:** 1. **Flt3 Signaling:** ETV6 is involved in Flt3 signaling, which regulates hematopoietic stem cell proliferation and differentiation. 2. **PDGFR Signaling:** ETV6 interacts with PDGFR to regulate cell proliferation, migration, and survival in various cell types. 3. **Neurogenesis:** ETV6 is involved in neurogenesis, regulating the development and maintenance of neurons. 4. **Cell Differentiation:** ETV6 regulates cell differentiation by controlling the expression of genes involved in cellular development and maturation. 5. **Apoptosis:** ETV6 modulates apoptosis by regulating the expression of genes involved in cell death and survival. **Clinical Significance:** 1. **Hematological Disorders:** ETV6 mutations have been implicated in hematological disorders, including acute myeloid leukemia and lymphoma. 2. **Neurological Disorders:** ETV6 is involved in neurological disorders, including neurodevelopmental disorders and neurodegenerative diseases. 3. **Cancer:** ETV6 is overexpressed in various cancers, including breast, lung, and colon cancer, suggesting its potential as a tumor suppressor. 4. **Immunological Disorders:** ETV6 is involved in immunological disorders, including autoimmune diseases and immunodeficiency syndromes. In conclusion, the ETV6 gene plays a crucial role in regulating cellular processes, including cell differentiation, proliferation, and survival. Its involvement in multiple signaling pathways and its expression in various cell types make it an important regulator of immune function and disease. Further research is needed to fully understand the functional significance of ETV6 in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 1964543807

Symbol: ETV6_HUMAN

Name: Transcription factor ETV6

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8168137

Title: 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

DOI: 10.1016/0092-8674(94)90322-0

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8743990

Title: Genomic organization of TEL: the human ETS-variant gene 6.

PubMed ID: 8743990

DOI: 10.1101/gr.6.5.404

PubMed ID: 17344859

Title: Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia.

PubMed ID: 17344859

DOI: 10.1038/nature05690

PubMed ID: 7731705

Title: Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PubMed ID: 7731705

PubMed ID: 7761424

Title: Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia.

PubMed ID: 7761424

DOI: 10.1073/pnas.92.11.4917

PubMed ID: 7780150

Title: The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion.

PubMed ID: 7780150

PubMed ID: 9326218

Title: Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.

PubMed ID: 9326218

PubMed ID: 10502316

Title: Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13).

PubMed ID: 10502316

DOI: 10.1002/(sici)1098-2264(199911)26:3<192::aid-gcc2>3.0.co;2-e

PubMed ID: 10477709

Title: Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).

PubMed ID: 10477709

PubMed ID: 12435397

Title: Functional regulation of TEL by p38-induced phosphorylation.

PubMed ID: 12435397

DOI: 10.1016/s0006-291x(02)02588-3

PubMed ID: 12203785

Title: A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.

PubMed ID: 12203785

DOI: 10.1002/gcc.10090

PubMed ID: 12181402

Title: Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta.

PubMed ID: 12181402

DOI: 10.1056/nejmoa020150

PubMed ID: 12588862

Title: The human L(3)MBT Polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6).

PubMed ID: 12588862

DOI: 10.1074/jbc.m300592200

PubMed ID: 12590135

Title: The histone deacetylase 9 gene encodes multiple protein isoforms.

PubMed ID: 12590135

DOI: 10.1074/jbc.m212935200

PubMed ID: 15806161

Title: Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia.

PubMed ID: 15806161

DOI: 10.1038/sj.onc.1208588

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 25581430

Title: Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

PubMed ID: 25581430

DOI: 10.1038/ng.3177

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

Sequence Information:

  • Length: 452
  • Mass: 53000
  • Checksum: DEC45682ECADECBB
  • Sequence:
  • MSETPAQCSI KQERISYTPP ESPVPSYASS TPLHVPVPRA LRMEEDSIRL PAHLRLQPIY 
    WSRDDVAQWL KWAENEFSLR PIDSNTFEMN GKALLLLTKE DFRYRSPHSG DVLYELLQHI 
    LKQRKPRILF SPFFHPGNSI HTQPEVILHQ NHEEDNCVQR TPRPSVDNVH HNPPTIELLH 
    RSRSPITTNH RPSPDPEQRP LRSPLDNMIR RLSPAERAQG PRPHQENNHQ ESYPLSVSPM 
    ENNHCPASSE SHPKPSSPRQ ESTRVIQLMP SPIMHPLILN PRHSVDFKQS RLSEDGLHRE 
    GKPINLSHRE DLAYMNHIMV SVSPPEEHAM PIGRIADCRL LWDYVYQLLS DSRYENFIRW 
    EDKESKIFRI VDPNGLARLW GNHKNRTNMT YEKMSRALRH YYKLNIIRKE PGQRLLFRFM 
    KTPDEIMSGR TDRLEHLESQ ELDEQIYQED EC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.