ERF Gene
ETS2 Repressor Factor: A Key Transcriptional Regulator in Craniosynostosis and Cancer
Gene Information Card
| Symbol | ERF |
|---|---|
| Full Name | ETS2 Repressor Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 2077 ncbi.nlm.nih.gov/gene/2077 |
| Ensembl ID | ENSG00000105722 |
| UniProt ID | P50548 |
| OMIM ID | 611888 |
| HGNC ID | 3444 |
| Aliases | PE-2, ETS2 repressor factor, CRS4 |
Description
The ERF gene encodes a transcriptional repressor that binds to ETS2 and other ETS family transcription factors, regulating cell proliferation, differentiation, and apoptosis. It acts as a tumor suppressor and is critical for cranial suture development. Loss-of-function mutations cause craniosynostosis type 4 (CRS4) and are implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniosynostosis 4 (CRS4) | Loss-of-function mutations in ERF impair repression of ETS target genes, leading to premature fusion of cranial sutures. | OMIM #600775; multiple familial and de novo mutations reported. |
| Prostate cancer | ERF is a tumor suppressor; reduced expression or deletion promotes oncogenic ETS signaling. | COSMIC; NCBI Gene; literature. |
| Leukemia | ERF deletions and mutations contribute to leukemogenesis via dysregulated ETS activity. | COSMIC; ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 9.7 | Low |
| Kidney | 7.4 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| K562 | 8.9 | Leukemia cell line |
| A549 | 7.2 | Lung cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; loss of function |
| c.304C>T (p.Arg102*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.497_498del (p.Val166Alafs*12) | Frameshift | <0.01% | Truncation; loss of function |
| Whole gene deletion | Copy number loss | Rare | Haploinsufficiency; craniosynostosis |
Mutation functional classification
Loss of Function (LOF)
Majority of ERF mutations are loss-of-function (nonsense, frameshift, deletions), leading to haploinsufficiency or complete loss of repressor activity.
Gain of Function (GOF)
Not reported for ERF.
Dominant Negative (DN)
Not reported; mechanism is primarily haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ETS transcription factor pathway
• MAPK signaling pathway (regulation via ETS2)
• Craniosynostosis pathway
Protein Summary
ERF (ETS2 Repressor Factor) is a 548-amino acid nuclear protein containing an ETS DNA-binding domain. It functions as a transcriptional repressor by binding to ETS recognition sites and recruiting co-repressors. ERF negatively regulates cell proliferation and is essential for cranial suture closure. Its loss leads to craniosynostosis and contributes to tumorigenesis in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHERF2 Knockout HEK293 Cell Line | EDJ-KQ2409 | Human | 9351 | Details Get a Quote |
| NHERF1 Knockout HEK293 Cell Line | EDJ-KQ3929 | Human | 9368 | Details Get a Quote |
| ERF Knockout HEK293 Cell Line | EDJ-KQ4553 | Human | 2077 | Details Get a Quote |
| MTERF1 Knockout HEK293 Cell Line | EDJ-KQ6150 | Human | 7978 | Details Get a Quote |
| MTERF4 Knockout HEK293 Cell Line | EDJ-KQ9256 | Human | 130916 | Details Get a Quote |
| MTERF2 Knockout HEK293 Cell Line | EDJ-KQ9514 | Human | 80298 | Details Get a Quote |
| MTERF3 Knockout HEK293 Cell Line | EDJ-KQ10862 | Human | 51001 | Details Get a Quote |
| ERFE Knockout HEK293 Cell Line | EDJ-KQ11321 | Human | 151176 | Details Get a Quote |
| TERF2IP Knockout HEK293 Cell Line | EDJ-KQ11407 | Human | 54386 | Details Get a Quote |
| ERFL Knockout HEK293 Cell Line | EDJ-KQ12542 | Human | 390937 | Details Get a Quote |
| NHERF4 Knockout HEK293 Cell Line | EDJ-KQ14418 | Human | 79849 | Details Get a Quote |
| SERF1B Knockout HEK293 Cell Line | EDJ-KQ15228 | Human | 728492 | Details Get a Quote |
| TRERF1 Knockout HEK293 Cell Line | EDJ-KQ15914 | Human | 55809 | Details Get a Quote |
| NHERF1 Knockout A-549 Cell Line | EDJ-KQ26166 | Human | 9368 | Details Get a Quote |
| NHERF1 Knockout HCT 116 Cell Line | EDJ-KQ26167 | Human | 9368 | Details Get a Quote |
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