ETV7

gene
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Also known as TEL2TEL-2

Summary

ETV7 (ETS variant transcription factor 7, HGNC:18160) is a protein-coding gene on chromosome 6p21.31, encoding Transcription factor ETV7 (Q9Y603). Transcriptional repressor; binds to the DNA sequence 5’-CCGGAAGT-3'.

The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).

Source: NCBI Gene 51513 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 81 total
  • Transcription factor: yes — 15 downstream targets (CollecTRI)
  • MANE Select transcript: NM_016135

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18160
Approved symbolETV7
NameETS variant transcription factor 7
Location6p21.31
Locus typegene with protein product
StatusApproved
AliasesTEL2, TEL-2
Ensembl geneENSG00000010030
Ensembl biotypeprotein_coding
OMIM605255
Entrez51513

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000339796, ENST00000340181, ENST00000373737, ENST00000373738, ENST00000538992, ENST00000615781, ENST00000620358, ENST00000627426

RefSeq mRNA: 8 — MANE Select: NM_016135 NM_001207035, NM_001207036, NM_001207037, NM_001207038, NM_001207039, NM_001207040, NM_001207041, NM_016135

CCDS: CCDS4819, CCDS56422, CCDS56423, CCDS56424, CCDS56425, CCDS75440, CCDS75441, CCDS78131

Canonical transcript exons

ENST00000340181 — 8 exons

ExonStartEnd
ENSE000007488273636892936369071
ENSE000007488733637587136376035
ENSE000007488773638553436385669
ENSE000018398203636619436366762
ENSE000022433153636687536366975
ENSE000034788073637345336373578
ENSE000034813173637133036371560
ENSE000038493493638753636387669

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 98.28.

FANTOM5 (CAGE): breadth broad, TPM avg 2.8870 / max 179.2696, expressed in 579 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
733441.2868228
733461.0755443
733450.2455110
733420.201853
733430.077441

Top tissues by expression

266 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233698.28gold quality
triceps brachiiUBERON:000150985.04gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451184.46gold quality
vena cavaUBERON:000408784.20gold quality
gluteal muscleUBERON:000200083.86silver quality
cervix squamous epitheliumUBERON:000692282.39silver quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.36gold quality
olfactory bulbUBERON:000226480.90silver quality
skin of legUBERON:000151180.85gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.38gold quality
type B pancreatic cellCL:000016979.69silver quality
skin of abdomenUBERON:000141679.46gold quality
inferior olivary complexUBERON:000212779.00gold quality
granulocyteCL:000009478.61gold quality
zone of skinUBERON:000001478.54gold quality
parotid glandUBERON:000183178.50silver quality
cerebellar vermisUBERON:000472078.39silver quality
skeletal muscle tissue of biceps brachiiUBERON:000450278.16gold quality
dorsal motor nucleus of vagus nerveUBERON:000287078.13gold quality
tongue squamous epitheliumUBERON:000691977.69gold quality
duodenumUBERON:000211477.50gold quality
olfactory segment of nasal mucosaUBERON:000538677.36gold quality
lateral nuclear group of thalamusUBERON:000273677.24silver quality
ponsUBERON:000098876.19silver quality
pylorusUBERON:000116675.81gold quality
subthalamic nucleusUBERON:000190675.74silver quality
substantia nigra pars reticulataUBERON:000196675.63gold quality
tongueUBERON:000172375.57silver quality
monocyteCL:000057675.38gold quality
saphenous veinUBERON:000731875.27silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no3.55

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

15 targets.

TargetRegulation
BMP6Repression
CYP24A1Activation
ETS1Unknown
ETS2Unknown
ETV6Unknown
MGAT5Unknown
MMP1Unknown
MMP2Unknown
MMP3Unknown
MMP9Activation
PIM3Activation
PRLUnknown
RARARepression
RNU1-1
TFECActivation

JASPAR motifs

MotifNameFamily
MA1708.1ETV7Ets-related
MA1708.2ETV7Ets-related

JASPAR matrix evidence (PMIDs): PMID:20517297

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

14 targeting ETV7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-4649-3P99.5666.901783
HSA-MIR-7106-5P99.5367.473574
HSA-MIR-485-5P99.1064.781889
HSA-MIR-6884-5P99.1064.501987
HSA-MIR-471098.6165.961048
HSA-MIR-449098.5168.47943
HSA-MIR-4664-5P98.1765.071020
HSA-MIR-2467-5P97.3667.71991
HSA-MIR-342-5P97.2564.10817
HSA-MIR-311697.0765.781324
HSA-MIR-191397.0766.201417
HSA-MIR-3126-5P96.8765.83912
HSA-MIR-6875-5P96.8765.49958

Literature-anchored findings (GeneRIF, showing 12)

  • Human TEL2 augments the proliferation and survival of normal mouse B cells and dramatically accelerates lymphoma development in Emu-Myc transgenic mice. (PMID:15743832)
  • TEL2 plays a key role in nasopharyngeal carcinoma metastasis by directly down-regulating SERPINE1. (PMID:26335051)
  • LTF (lactotransferrin/lactoferrin), and ETV7 (Ets variant 7) were mainly related with cell apoptosis and immune responses. (PMID:29279524)
  • DNAJC15 as a new target gene responsible for ETV7-mediated Doxorubicin-resistance. (PMID:30025229)
  • ETV7 expression is up-regulated in many types of cancer.ETV7 expression alters mTOR signaling. (PMID:30258985)
  • ETV7 expression enhanced the colony-forming and self-renewal activities of primary myeloid Pten(-/-) cells. In this study we established a transgenic mouse in which we can more accurately model ETV7-associated human tumorigenesis in vivo. (PMID:30478527)
  • Integrated Analysis of the ETS Family in Melanoma Reveals a Regulatory Role of ETV7 in the Immune Microenvironment. (PMID:33424867)
  • ETV7 regulates breast cancer stem-like cell features by repressing IFN-response genes. (PMID:34315857)
  • Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer. (PMID:34926692)
  • ETV7 promotes colorectal cancer progression through upregulation of IFIT3. (PMID:38200280)
  • Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway. (PMID:38282047)
  • Assembly of mTORC3 Involves Binding of ETV7 to Two Separate Sequences in the mTOR Kinase Domain. (PMID:39337528)

Cross-species orthologs

1 orthologs

OrganismSymbolGene ID
danio_rerioetv7ENSDARG00000089434

Paralogs (28): ETV1 (ENSG00000006468), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)

Protein

Protein identifiers

Transcription factor ETV7Q9Y603 (reviewed: Q9Y603)

Alternative names: ETS translocation variant 7, ETS-related protein Tel2, Tel-related Ets factor, Transcription factor Tel-2

All UniProt accessions (1): Q9Y603

UniProt curated annotations — full annotation on UniProt →

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.

Isoforms (8)

UniProt IDNamesCanonical?
Q9Y603-1Byes
Q9Y603-2A
Q9Y603-3C
Q9Y603-4D
Q9Y603-5E
Q9Y603-6F
Q9Y603-7G
Q9Y603-8H

RefSeq proteins (8): NP_001193964, NP_001193965, NP_001193966, NP_001193967, NP_001193968, NP_001193969, NP_001193970, NP_057219* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000418Ets_domDomain
IPR003118Pointed_domDomain
IPR013761SAM/pointed_sfHomologous_superfamily
IPR036388WH-like_DNA-bd_sfHomologous_superfamily
IPR036390WH_DNA-bd_sfHomologous_superfamily
IPR046328ETS_famFamily

Pfam: PF00178, PF02198

UniProt features (19 total): splice variant 6, sequence variant 5, sequence conflict 4, chain 1, domain 1, DNA-binding region 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
9HK0X-RAY DIFFRACTION1.61

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y603-F166.320.25

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): BENPORATH_ES_WITH_H3K27ME3, KEGG_DORSO_VENTRAL_AXIS_FORMATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, BLALOCK_ALZHEIMERS_DISEASE_UP, BENPORATH_ES_CORE_NINE_CORRELATED, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HATADA_METHYLATED_IN_LUNG_CANCER_UP, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, WARTERS_RESPONSE_TO_IR_SKIN, SRC_UP.V1_UP, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_DN, GOMF_DNA_BINDING_TRANSCRIPTION_REPRESSOR_ACTIVITY

GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), animal organ morphogenesis (GO:0009887), cell differentiation (GO:0030154), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (8): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of transcription by RNA polymerase II2
transcription by RNA polymerase II2
regulation of DNA-templated transcription2
DNA-templated transcription2
transcription cis-regulatory region binding2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
cellular anatomical structure2
negative regulation of DNA-templated transcription1
anatomical structure morphogenesis1
animal organ development1
cellular developmental process1
regulation of gene expression1
regulation of RNA biosynthetic process1
chromatin1
DNA-binding transcription factor activity1
negative regulation of transcription by RNA polymerase II1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription repressor activity1
double-stranded DNA binding1
sequence-specific DNA binding1
nucleic acid binding1
transcription regulator activity1
binding1
DNA binding1
chromosome1
intracellular membrane-bounded organelle1
nuclear lumen1

Protein interactions and networks

STRING

822 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ETV7KIR3DL3Q8N743518
ETV7TRIM45Q9H8W5509
ETV7KIR3DL1P43629507
ETV7KIR2DL3P43628506
ETV7TTI1O43156487
ETV7KIR2DL1P43626480
ETV7KIR2DL4P78400474
ETV7KIR3DL2P43630471
ETV7ZNF594Q96JF6462
ETV7STACQ99469446
ETV7CAPN15O75808436
ETV7BATF2Q8N1L9428
ETV7ZNF236Q9UL36426
ETV7SORBS1Q9BX66419
ETV7ZNF491Q8N8L2410

IntAct

17 interactions, top by confidence:

ABTypeScore
RPTORMTORpsi-mi:“MI:0914”(association)0.980
RICTORMTORpsi-mi:“MI:0914”(association)0.970
ETV7ETV6psi-mi:“MI:0914”(association)0.670
NFIAETV7psi-mi:“MI:0915”(physical association)0.470
NFIBETV7psi-mi:“MI:0915”(physical association)0.470
ETV7NFIBpsi-mi:“MI:2364”(proximity)0.470
NFICETV7psi-mi:“MI:0915”(physical association)0.400
CCL2ETV7psi-mi:“MI:0915”(physical association)0.370
CCL24ETV7psi-mi:“MI:0915”(physical association)0.370
IL23AETV7psi-mi:“MI:0915”(physical association)0.370
IRF4ETV7psi-mi:“MI:0915”(physical association)0.370
ETV7WT1psi-mi:“MI:0915”(physical association)0.370
ETV7LRPAP1psi-mi:“MI:0915”(physical association)0.370
VTNETV7psi-mi:“MI:0915”(physical association)0.370
ETV7AIFM1psi-mi:“MI:0914”(association)0.350

BioGRID (35): ETV6 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), ETV6 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), ETV7 (Two-hybrid), ETV6 (Affinity Capture-MS), PDLIM7 (Affinity Capture-MS), ETV6 (Proximity Label-MS), HIVEP1 (Proximity Label-MS), NKX2-4 (Proximity Label-MS), NFIB (Proximity Label-MS), ATXN1L (Proximity Label-MS), NR2C1 (Proximity Label-MS), MNX1 (Proximity Label-MS), HIRA (Proximity Label-MS)

ESM2 similar proteins: A0JMR6, A1A4L6, A1YG61, A2T737, O70273, O75747, P01105, P10157, P11308, P13474, P14921, P15036, P15037, P15062, P18755, P19102, P26323, P27577, P41156, P41157, P41212, P57782, P81270, P97360, Q08AW4, Q15052, Q32LN0, Q3SZL0, Q3US16, Q58DT0, Q60641, Q6GPJ8, Q6P3D7, Q7ZYI3, Q8BZ05, Q8C7R7, Q8HWS3, Q8N8B7, Q8NDB2, Q8VDK3

Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

81 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance49
Likely benign10
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1239 predictions. Top by Δscore:

VariantEffectΔscore
6:36366870:CTCA:Cdonor_loss1.0000
6:36366871:TCA:Tdonor_loss1.0000
6:36366872:CAC:Cdonor_loss1.0000
6:36366873:A:ACdonor_gain1.0000
6:36366874:C:CAdonor_loss1.0000
6:36366874:C:CCdonor_gain1.0000
6:36366971:CGGTT:Cacceptor_gain1.0000
6:36366972:GGTT:Gacceptor_gain1.0000
6:36366972:GGTTC:Gacceptor_loss1.0000
6:36366973:GTT:Gacceptor_gain1.0000
6:36366973:GTTC:Gacceptor_loss1.0000
6:36366974:TT:Tacceptor_gain1.0000
6:36366975:TCT:Tacceptor_loss1.0000
6:36366976:C:CCacceptor_gain1.0000
6:36366976:CTGGA:Cacceptor_loss1.0000
6:36366977:T:Aacceptor_loss1.0000
6:36368923:GCTCA:Gdonor_loss1.0000
6:36368924:CTCAC:Cdonor_loss1.0000
6:36368925:TCAC:Tdonor_loss1.0000
6:36368926:CA:Cdonor_loss1.0000
6:36368928:C:Gdonor_loss1.0000
6:36371434:T:TAdonor_gain1.0000
6:36373446:T:TAdonor_gain1.0000
6:36373575:TCACC:Tacceptor_loss1.0000
6:36373577:ACCTG:Aacceptor_loss1.0000
6:36373579:C:CCacceptor_gain1.0000
6:36366874:CCTG:Cdonor_gain0.9900
6:36366874:CCTGA:Cdonor_gain0.9900
6:36366984:C:CTacceptor_gain0.9900
6:36368927:A:ACdonor_gain0.9900

AlphaMissense

2229 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:36366877:G:CF302L0.999
6:36366877:G:TF302L0.999
6:36366879:A:GF302L0.999
6:36366933:G:TR284S0.999
6:36366962:A:GM274T0.999
6:36368929:C:AK269N0.999
6:36368929:C:GK269N0.999
6:36368941:C:AW265C0.999
6:36368941:C:GW265C0.999
6:36368943:A:GW265R0.999
6:36368943:A:TW265R0.999
6:36368975:C:GR254P0.999
6:36368977:G:CF253L0.999
6:36368977:G:TF253L0.999
6:36368978:A:GF253S0.999
6:36368979:A:GF253L0.999
6:36369003:A:GW245R0.999
6:36369003:A:TW245R0.999
6:36366759:A:CF304L0.998
6:36366759:A:TF304L0.998
6:36366761:A:GF304L0.998
6:36366878:A:GF302S0.998
6:36366935:A:GL283P0.998
6:36366942:G:TR281S0.998
6:36366947:A:CM279R0.998
6:36366953:T:AE277V0.998
6:36366961:C:AM274I0.998
6:36366961:C:GM274I0.998
6:36366961:C:TM274I0.998
6:36368939:C:TG266E0.998

dbSNP variants (sampled 300 via entrez): RS1000021951 (6:36363229 C>A,T), RS1000052162 (6:36369247 A>G), RS1000176104 (6:36367831 T>G), RS1000196483 (6:36355321 C>G,T), RS1000227509 (6:36355643 C>T), RS1000336658 (6:36370264 G>T), RS1000388563 (6:36361090 A>G), RS1000572679 (6:36365977 G>A), RS1000693856 (6:36361937 T>TG), RS1000759644 (6:36360890 A>T), RS1000889946 (6:36377505 G>A), RS1000894035 (6:36382577 A>C,G), RS1000977140 (6:36386958 G>GTAAC), RS1001029520 (6:36387194 T>C), RS1001101844 (6:36389502 T>C)

Disease associations

OMIM: gene MIM:605255 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

StudyTraitp-value
GCST004599_226Mean platelet volume1.000000e-28
GCST004603_23Platelet count2.000000e-09
GCST005973_9White blood cell count6.000000e-10
GCST006959_167Rheumatoid arthritis2.000000e-09
GCST006959_30Rheumatoid arthritis4.000000e-08
GCST007400_70Systemic lupus erythematosus6.000000e-06
GCST009597_231Multiple sclerosis3.000000e-19

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004309platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases expression2
Smokedecreases expression2
TL8-506affects cotreatment, increases expression1
triphenyl phosphateaffects expression1
sodium arseniteincreases expression1
perfluorooctanoic aciddecreases expression1
S-(1,2-dichlorovinyl)cysteinedecreases reaction, increases expression1
CGP 52608affects binding, increases reaction1
nutlin 3affects cotreatment, increases expression1
abrineincreases expression1
licochalcone Bincreases expression1
(+)-JQ1 compoundincreases expression1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinoneincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Amiodaroneincreases expression1
Dactinomycinaffects cotreatment, increases expression1
Estradiolaffects cotreatment, decreases expression1
Formaldehydeincreases expression1
Lipopolysaccharidesincreases expression, decreases reaction1
Methyl Methanesulfonateincreases expression1
N-Nitrosopyrrolidineincreases expression1
Naledaffects expression1
Nickelincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Tretinoinincreases expression1
Aflatoxin B1increases expression1
Antirheumatic Agentsdecreases expression1
Lactic Aciddecreases expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B1FAAbcam A-549 ETV7 KO 1Cancer cell lineMale
CVCL_B2MUAbcam A-549 ETV7 KO 2Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.