ERF

Chr 19

ETS2 repressor factor

Also known as: CHYTS, CRS4, PE-2, PE2

NCBI Gene: 2077ENSG00000105722UniProt: P50548

ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCraniosynostosis 4
UniProtChitayat syndrome

Clinical highlights

Gene-disease validity (ClinGen)
craniosynostosis 4 · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
9
Active trials
705
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.26
LOEUF· LoF intol.
Multiple*
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.26LOEUF
pLI 0.990
Z-score 3.73
OE 0.06 (0.02–0.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.25Z-score
OE missense 0.66 (0.60–0.74)
238 obs / 358.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.06 (0.02–0.26)
0≤0.351.4
Missense OE?0.66 (0.60–0.74)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 1 / 18.2Missense obs/exp: 238 / 358.1Syn Z: -1.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ERF · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Carcinoma, Non-Small-Cell LungNeoplasm Metastasis

A Study of First-Line Olomorasib (LY3537982) and Pembrolizumab With or Without Chemotherapy in Patients With Advanced KRAS G12C-Mutant Non-small Cell Lung Cancer

RECRUITING
NCT06119581Phase PHASE3Eli Lilly and CompanyStarted 2023-12-21
LY3537982PembrolizumabPlacebo
Melanoma

Clinical Study of Fianlimab in Combination With Cemiplimab Versus Pembrolizumab in Adolescent and Adult Patients With Previously Untreated Unresectable Locally Advanced or Metastatic Melanoma

ACTIVE NOT RECRUITING
NCT05352672Phase PHASE3Regeneron PharmaceuticalsStarted 2022-07-14
FianlimabCemiplimabPembrolizumab
Advanced (Stage IIIB/IV) Non-small Cell Lung Cancer (NSCLC) With MET Exon 14 (METex14) Skipping Alterations or MET AmplificationLung Adenocarcinoma Stage IIIB/IV

Tepotinib Phase II in NSCLC Harboring MET Alterations (VISION)

ACTIVE NOT RECRUITING
NCT02864992Phase PHASE2EMD Serono Research & Development Institute, Inc.Started 2016-09-13
Tepotinib
Basal Cell Carcinoma (BCC)First Line Treatment

Evaluation of Efficacy and Safety of Cemiplimab as First Line Treatment for Advanced Basal Cell Carcinoma (BCC) Patients

RECRUITING
NCT06981325Phase PHASE2Institut für Klinische Krebsforschung IKF GmbH at Krankenhaus NordwestStarted 2025-08-07
Cemiplimab
Malignant Melanoma Stage II

Adjuvant Nivolumab Treatment in Stage II (IIA, IIB, IIC) High-risk Melanoma

ACTIVE NOT RECRUITING
NCT04309409Phase PHASE3University Hospital, EssenStarted 2020-07-01
Nivolumab
Healthy AdultsHigh AltitudeIsolation, Social

Human Milk Oligosaccharides (HMOs) and Gut Microbiota, Immune System in Antarctica

ENROLLING BY INVITATION
NCT06133530Phase NAIU University of Applied SciencesStarted 2023-09-24
Human milk oligosaccharidesMaltose
Melanoma

A Clinical Trial of Three Study Medicines (Encorafenib, Binimetinib, and Pembrolizumab) in Patients With Advanced or Metastatic Melanoma

ACTIVE NOT RECRUITING
NCT04657991Phase PHASE3PfizerStarted 2021-01-15
EncorafenibBinimetinibPembrolizumab
Leukemia, Chronic Myeloid

A Study on the Tolerability, Safety and Effectiveness of Asciminib in Patients With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in the Chronic Phase in Germany

RECRUITING
NCT07549516Novartis PharmaceuticalsStarted 2026-04-17
Melanoma

A Trial to See if the Combination of Fianlimab With Cemiplimab Works Better Than Pembrolizumab for Preventing or Delaying Melanoma From Coming Back After it Has Been Removed With Surgery

ACTIVE NOT RECRUITING
NCT05608291Phase PHASE3Regeneron PharmaceuticalsStarted 2023-01-16
FianlimabCemiplimabPembrolizumab

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients