NELFE Gene
Negative Elongation Factor Complex Member E
Gene Information Card
| Symbol | NELFE |
|---|---|
| Full Name | Negative Elongation Factor Complex Member E |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 7936 ncbi.nlm.nih.gov/gene/7936 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | P18615 |
| OMIM ID | 154040 |
| HGNC ID | 7736 |
| Aliases | RD, NELF-E, RDP, D6S45 |
Description
NELFE encodes a component of the negative elongation factor (NELF) complex, which represses RNA polymerase II transcription elongation. The NELF complex binds to the polymerase and induces pausing, playing a critical role in the regulation of gene expression, particularly in response to developmental and environmental signals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.8 | Medium |
| Lymph node | 22.1 | Medium |
| Spleen | 20.5 | Medium |
| Bone marrow | 19.3 | Medium |
| Brain | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 30.1 | Embryonic kidney |
| HeLa | 28.4 | Cervical carcinoma |
| K562 | 26.7 | Leukemia |
| HepG2 | 24.9 | Hepatocellular carcinoma |
| A549 | 22.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Negative elongation factor (NELF) complex pathway
• RNA polymerase II transcription elongation
Protein Summary
NELFE (NELF-E) is a 380-amino-acid protein that contains an RNA recognition motif (RRM) and is a core component of the NELF complex. It binds to RNA polymerase II and contributes to promoter-proximal pausing, a key regulatory step in transcription. The protein is ubiquitously expressed and localizes to the nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NELFE Knockout HEK293 Cell Line | EDJ-KQ50731 | Human | 7936 | Details Get a Quote |
| NELFE Knockout HeLa Cell Line | EDJ-KQ54807 | Human | 7936 | Details Get a Quote |
| NELFE Knockout A-549 Cell Line | EDJ-KQ63297 | Human | 7936 | Details Get a Quote |
| NELFE Knockout HCT 116 Cell Line | EDJ-KQ71766 | Human | 7936 | Details Get a Quote |
