ELOA Gene: Elongin A Subunit of RNA Polymerase II Transcription Elongation Factor
Comprehensive gene card for ELOA (TCEB3) – function, expression, mutations, and disease associations
Gene Information Card
| Symbol | ELOA |
|---|---|
| Full Name | elongin A |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 6924 ncbi.nlm.nih.gov/gene/6924 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q14241 |
| OMIM ID | 600786 |
| HGNC ID | 11619 |
| Aliases | TCEB3, SIII, Elongin A |
Description
ELOA (elongin A) encodes the A subunit of the elongin complex, which stimulates RNA polymerase II transcription elongation by suppressing transient pausing. The elongin complex consists of elongin A, B, and C. Elongin A functions as the transcriptionally active subunit, while elongin B and C are regulatory. ELOA is involved in cellular stress responses and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Biallelic loss-of-function mutations in ELOA impair transcription elongation, leading to neuronal dysfunction | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression of ELOA may contribute to tumor progression | COSMIC, NCBI |
| Breast cancer | Overexpression of ELOA associated with poor prognosis; potential role in transcriptional dysregulation | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| K562 | 7.4 | Leukemia cells |
| HepG2 | 6.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop; loss of function |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Unknown significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ELOA lead to truncated or absent protein, impairing transcription elongation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ELOA.
Dominant Negative (DN)
Missense mutations in the elongin A domain may disrupt complex assembly, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • transcription (GO:0006351) | • regulation of transcription (GO:0006355) |
| • transcription elongation from RNA polymerase II promoter (GO:0006368) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) |
Pathways
• RNA polymerase II transcription elongation (Reactome: R-HSA-75955)
• Elongin complex assembly (Reactome: R-HSA-8951936)
Protein Summary
Elongin A (ELOA) is a 772-amino acid protein that contains a von Willebrand factor type A (vWA) domain and a C-terminal domain essential for interaction with elongin B/C. It directly binds RNA polymerase II and stimulates elongation by reducing pausing. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELOA Knockout HEK293 Cell Line | EDJ-KQ5900 | Human | 6924 | Details Get a Quote |
| ELOA2 Knockout HEK293 Cell Line | EDJ-KQ10980 | Human | 51224 | Details Get a Quote |
| ELOA Knockout A-549 Cell Line | EDJ-KQ29413 | Human | 6924 | Details Get a Quote |
| ELOA Knockout HCT 116 Cell Line | EDJ-KQ29414 | Human | 6924 | Details Get a Quote |
| ELOA Knockout HeLa Cell Line | EDJ-KQ29415 | Human | 6924 | Details Get a Quote |
| ELOA2 Knockout HeLa Cell Line | EDJ-KQ56254 | Human | 51224 | Details Get a Quote |
| ELOA2 Knockout A-549 Cell Line | EDJ-KQ64743 | Human | 51224 | Details Get a Quote |
| ELOA2 Knockout HCT 116 Cell Line | EDJ-KQ73188 | Human | 51224 | Details Get a Quote |
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