EAF2 Gene - ELL-Associated Factor 2
EAF2: A transcriptional elongation factor implicated in prostate cancer and cellular stress responses
Gene Information Card
| Symbol | EAF2 |
|---|---|
| Full Name | ELL associated factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 55840 ncbi.nlm.nih.gov/gene/55840 |
| Ensembl ID | ENSG00000145016 |
| UniProt ID | Q96CJ1 |
| OMIM ID | 617456 |
| HGNC ID | 20921 |
| Aliases | U19, TRAITS |
Description
EAF2 (ELL associated factor 2) is a protein-coding gene that encodes a component of the super elongation complex (SEC), which is involved in transcriptional elongation by RNA polymerase II. The protein interacts with ELL (eleven-nineteen lysine-rich leukemia factor) and enhances its transcriptional elongation activity. EAF2 is also known as U19 and TRAITS (TRAIL-induced transcript). It plays roles in apoptosis, cell cycle regulation, and has been implicated as a tumor suppressor in prostate cancer. Expression is regulated by androgens and stress signals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Loss of EAF2 expression contributes to tumor progression; EAF2 acts as a tumor suppressor through regulation of apoptosis and cell proliferation. | PMID: 17332331, PMID: 21447744 |
| Clear cell renal cell carcinoma | EAF2 is downregulated and associated with poor prognosis; may regulate HIF-1α signaling. | PMID: 25944712 |
| Lung cancer | EAF2 expression is reduced in non-small cell lung cancer; overexpression inhibits cell growth. | PMID: 24662967 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
| Lung | 5.4 | Low |
| Liver | 4.2 | Low |
| Brain | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 15.2 | Androgen-independent line |
| LNCaP (prostate cancer) | 22.8 | Androgen-sensitive; higher expression |
| DU145 (prostate cancer) | 10.5 | Moderate expression |
| HEK293 (embryonic kidney) | 8.9 | Basal expression |
| A549 (lung cancer) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.1% | Rare variant; functional impact unknown |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Truncating or missense mutations that disrupt the ELL-binding domain or nuclear localization signal are predicted to impair transcriptional elongation and tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EAF2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EAF2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Super elongation complex (SEC) pathway
• RNA polymerase II transcription elongation
• TRAIL signaling pathway
Protein Summary
EAF2 is a 263-amino acid nuclear protein that contains an ELL-binding domain and a nuclear localization signal. It is a component of the super elongation complex (SEC) and enhances the transcriptional elongation activity of ELL. EAF2 is also involved in TRAIL-induced apoptosis and acts as a tumor suppressor in prostate cancer. The protein is regulated by androgens and is frequently downregulated in prostate and renal cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EAF2 Knockout HEK293 Cell Line | EDJ-KQ12465 | Human | 55840 | Details Get a Quote |
| EAF2 Knockout A-549 Cell Line | EDJ-KQ42636 | Human | 55840 | Details Get a Quote |
| EAF2 Knockout HCT 116 Cell Line | EDJ-KQ42638 | Human | 55840 | Details Get a Quote |
| EAF2 Knockout HeLa Cell Line | EDJ-KQ42639 | Human | 55840 | Details Get a Quote |
