ELL2 Gene
Elongation Factor for RNA Polymerase II 2
Gene Information Card
| Symbol | ELL2 |
|---|---|
| Full Name | Elongation Factor for RNA Polymerase II 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q15 |
| NCBI Gene ID | 22936 ncbi.nlm.nih.gov/gene/22936 |
| Ensembl ID | ENSG00000118985 |
| UniProt ID | O00472 |
| OMIM ID | 601874 |
| HGNC ID | 3262 |
| Aliases | MRCCAT1, MRCCAT, ELL2 |
Description
ELL2 (Elongation Factor for RNA Polymerase II 2) encodes a protein that functions as an RNA polymerase II elongation factor. It is part of the super elongation complex (SEC) and plays a critical role in transcriptional elongation by reducing pausing of RNA polymerase II. ELL2 is involved in the regulation of immunoglobulin heavy chain gene expression in plasma cells and has been implicated in multiple myeloma and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | ELL2 is a target of recurrent translocations and copy number alterations in multiple myeloma, leading to dysregulated transcription elongation and plasma cell differentiation. | PMID: 22158541; COSMIC |
| Prostate Cancer | ELL2 expression is altered in prostate cancer, potentially affecting androgen receptor signaling and tumor progression. | PMID: 23542377; NCBI Gene |
| Renal Cell Carcinoma | ELL2 (MRCCAT1) is implicated in clear cell renal cell carcinoma through transcriptional dysregulation. | PMID: 19492075; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 8.7 | Medium expression |
| HEK 293 (embryonic kidney) | 6.2 | Medium expression |
| MCF7 (breast) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567_568insA | Frameshift | <0.1% | Predicted loss of function |
| c.890G>A | Nonsense | <0.1% | Premature stop codon, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ELL2 are predicted to result in truncated or absent protein, leading to loss of elongation factor activity and impaired transcription elongation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in ELL2.
Dominant Negative (DN)
No dominant-negative mutations have been described for ELL2.
View complete mutation data：
Gene Ontology (GO)
| • transcription (GO:0006351) | • regulation of transcription (GO:0006355) |
| • transcription elongation from RNA polymerase II promoter (GO:0006368) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• Super elongation complex (SEC)
• RNA polymerase II transcription elongation
• Transcriptional regulation by MYC
Protein Summary
The ELL2 protein is a 640-amino acid elongation factor that binds RNA polymerase II and stimulates transcription elongation by reducing pausing. It contains an N-terminal domain required for interaction with the polymerase and a C-terminal domain involved in protein-protein interactions within the super elongation complex. ELL2 is highly expressed in hematopoietic tissues and is essential for normal plasma cell differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELL2 Knockout HEK293 Cell Line | EDJ-KQ7752 | Human | 22936 | Details Get a Quote |
| ELL2 Knockout A-549 Cell Line | EDJ-KQ33191 | Human | 22936 | Details Get a Quote |
| ELL2 Knockout HCT 116 Cell Line | EDJ-KQ33192 | Human | 22936 | Details Get a Quote |
| ELL2 Knockout HeLa Cell Line | EDJ-KQ33193 | Human | 22936 | Details Get a Quote |
