ELOB Gene - Elongin B
A component of the elongin complex involved in transcription elongation and ubiquitin-dependent proteolysis
Gene Information Card
| Symbol | ELOB |
|---|---|
| Full Name | Elongin B |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 6923 ncbi.nlm.nih.gov/gene/6923 |
| Ensembl ID | ENSG00000103319 |
| UniProt ID | Q15370 |
| OMIM ID | 600787 |
| HGNC ID | 3321 |
| Aliases | TCEB2, SIII, Elongin B |
Description
ELOB encodes elongin B, a subunit of the elongin (SIII) complex that stimulates transcription elongation by RNA polymerase II. Elongin B also functions as a component of the von Hippel-Lindau (VHL) E3 ubiquitin ligase complex, targeting hypoxia-inducible factors (HIFs) for proteasomal degradation under normoxic conditions. Mutations in ELOB are associated with various cancers and VHL-like syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Von Hippel-Lindau syndrome-like phenotype | Loss of ELOB function impairs VHL E3 ligase activity, leading to HIF accumulation and tumorigenesis | PMID: 26034056 |
| Renal cell carcinoma | Somatic mutations in ELOB disrupt VHL complex, promoting HIF stabilization and oncogenesis | COSMIC ID: 6923 |
| Paraganglioma | Germline mutations in ELOB cause hereditary paraganglioma via dysregulated hypoxia signaling | PMID: 26034056 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 15.2 | Medium |
| Liver | 10.8 | Medium |
| Heart | 9.3 | Low |
| Lung | 11.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| A549 | 12.7 | Medium expression |
| MCF7 | 10.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341G>A (p.Arg114His) | Missense | 0.01% | Loss of VHL complex binding |
| c.208C>T (p.Arg70*) | Nonsense | 0.005% | Truncation, loss of function |
| c.118_119del (p.Leu40fs) | Frameshift | 0.002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ELOB mutations result in loss of elongin B function, impairing VHL E3 ligase activity and leading to HIF stabilization.
Gain of Function (GOF)
No gain-of-function mutations reported in ELOB.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • Transcription elongation factor activity | • Ubiquitin protein ligase binding |
| • Protein ubiquitination | • Regulation of transcription by RNA polymerase II |
| • Cellular response to hypoxia |
Pathways
• VHL-HIF pathway
• Ubiquitin-proteasome pathway
• Transcription elongation by RNA polymerase II
Protein Summary
Elongin B is a 118-amino acid protein that forms a stable complex with elongin A and elongin C to stimulate transcription elongation. It also interacts with the VHL tumor suppressor protein, forming an E3 ubiquitin ligase that targets HIF-1α for degradation. The protein contains a ubiquitin-like domain essential for complex assembly and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOB Knockout HEK293 Cell Line | EDJ-KQ50675 | Human | 6923 | Details Get a Quote |
| ELOB Knockout HeLa Cell Line | EDJ-KQ54621 | Human | 6923 | Details Get a Quote |
| ELOB Knockout A-549 Cell Line | EDJ-KQ63104 | Human | 6923 | Details Get a Quote |
| ELOB Knockout HCT 116 Cell Line | EDJ-KQ71576 | Human | 6923 | Details Get a Quote |
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