ETV7

Chr 6

ETS variant transcription factor 7

Also known as: TEL-2, TEL2, TELB

NCBI Gene: 51513ENSG00000010030UniProt: Q9Y603

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).[provided by RefSeq, May 2011]

71
ClinVar variants
8
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— ETV7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 51 VUS of 71 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.53LOEUF
pLI 0.000
Z-score -0.22
OE 1.05 (0.74–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.21Z-score
OE missense 0.96 (0.85–1.08)
190 obs / 198.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.05 (0.74–1.53)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.85–1.08)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 20 / 19.0Missense obs/exp: 190 / 198.4Syn Z: -0.79

ClinVar Variant Classifications

71 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
Likely Pathogenic1
VUS51
Likely Benign10
Benign2
7
Pathogenic
1
Likely Pathogenic
51
VUS
10
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
1
0
1
VUS
0
49
2
0
51
Likely Benign
0
10
0
0
10
Benign
0
1
0
1
2
Total06010171

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ETV7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
ETV7 limits the antiviral and antitumor efficacy of CD8(+) T cells by diverting their fate toward exhaustion.
Cheng J et al.·Nat Cancer
2025
ETV6 and ETV7: Siblings in hematopoiesis and its disruption in disease.
Rasighaemi P et al.·Crit Rev Oncol Hematol
2017Review
ETV7 promotes colorectal cancer progression through upregulation of IFIT3.
Chai B et al.·Funct Integr Genomics
2024
Zebrafish ETV7 regulates red blood cell development through the cholesterol synthesis pathway.
Quintana AM et al.·Dis Model Mech
2014Functional
Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer.
Li H et al.·Biomed Res Int
2021
Immune profiling reveals prognostic genes in high-grade serous ovarian cancer.
Wu Y et al.·Aging (Albany NY)
2020
Utility of a three-gene transcriptomic signature in the diagnosis of tuberculosis in a low-endemic hospital setting.
Chendi BH et al.·Infect Dis (Lond)
2023
Haploinsufficiency of the lysosomal sialidase NEU1 results in a model of pleomorphic rhabdomyosarcoma in mice.
Machado ER et al.·Commun Biol
2022Functional
A Three-Gene Signature Predicts Response to Selinexor in Multiple Myeloma.
Restrepo P et al.·JCO Precis Oncol
2022
HPV-Associated Gene Signatures in Bladder Cancer: A Comprehensive Prognostic Model and its Implications in Immunotherapy.
Tang Z et al.·Int J Med Sci
2025Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Single Cell Sequencing TechnologyGene Expression ProfilingGene Expression

Host Response to Infection by Direct Analysis of Leukocyte Single Cell-type Gene Expression/transcript Abundance, Direct LS-TA. a Prospective Study Will Evaluate the Performance of Direct LS-TA in Triage Febrile Patients Into Major Categories of Infections: Viral, Bacterial or Active Tuberculosis.

NOT YET RECRUITING
NCT06846645Chinese University of Hong KongStarted 2025-02
No intervention
Gene ExpressionGene Expression ProfilingInfection

Host Response to Infection by Direct Analysis of Leukocyte Single Cell-type Gene Expression/transcript Abundance, Direct LS-TA

ACTIVE NOT RECRUITING
NCT06838780Chinese University of Hong KongStarted 2018-01-01
No intervention

External Resources

Links to major genomics databases and tools