EDC3 Enhancer of mRNA Decapping 3
A key regulator of mRNA decay and P-body assembly
Gene Information Card
| Symbol | EDC3 |
|---|---|
| Full Name | Enhancer of mRNA Decapping 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 80153 ncbi.nlm.nih.gov/gene/80153 |
| Ensembl ID | ENSG00000179151 |
| UniProt ID | Q96F86 |
| OMIM ID | 609842 |
| HGNC ID | 26141 |
| Aliases | LSm16, YJEFN2, hYjeF_N2 |
Description
EDC3 encodes a protein that functions as an enhancer of mRNA decapping, a critical step in the 5'-to-3' mRNA decay pathway. The protein localizes to cytoplasmic processing bodies (P-bodies) and interacts with the decapping enzyme DCP2 and other decapping cofactors. EDC3 contains an LSm domain and a YjeF-N domain, which are involved in RNA binding and protein-protein interactions. It plays a role in post-transcriptional gene regulation by promoting the removal of the 5' cap from mRNAs, thereby facilitating their degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of EDC3 may disrupt mRNA turnover of oncogenes or tumor suppressors, contributing to tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Potential role in mRNA regulation in neurons; variants may affect synaptic mRNA decay. | Limited evidence from rare variant studies; not yet confirmed in large cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in embryonic kidney cells |
| HeLa | 12.3 | Moderate expression in cervical cancer cells |
| K562 | 8.7 | Moderate expression in leukemia cells |
| HepG2 | 6.5 | Low expression in 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 | <0.01% | Likely loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown significance; reported in COSMIC |
| c.1045G>A (p.Glu349Lys) | Missense | <0.01% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EDC3 are predicted to impair mRNA decapping and P-body assembly, potentially leading to dysregulated gene expression.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for EDC3.
Dominant Negative (DN)
No dominant-negative mutations have been reported for EDC3.
View complete mutation data:
Gene Ontology (GO)
| • deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290) | • P-body (GO:0000932) |
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
| • deadenylation-independent decapping of nuclear-transcribed mRNA (GO:0031087) |
Pathways
• mRNA decay by 5'-to-3' exoribonuclease
• Processing of capped intron-containing pre-mRNA
Protein Summary
EDC3 is a 508-amino acid protein with a molecular weight of approximately 57 kDa. It contains an N-terminal LSm domain (residues 1-70) that mediates RNA binding and interaction with the decapping complex, and a C-terminal YjeF-N domain (residues 200-400) of unknown function but conserved in bacteria and eukaryotes. The protein is predominantly cytoplasmic and localizes to P-bodies, where it enhances the activity of DCP2. EDC3 also interacts with other decapping factors such as DCP1A, DDX6, and PATL1. Post-translational modifications include phosphorylation, which may regulate its localization and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDC3 Knockout HEK293 Cell Line | EDJ-KQ9466 | Human | 80153 | Details Get a Quote |
| EDC3 Knockout HeLa Cell Line | EDJ-KQ34926 | Human | 80153 | Details Get a Quote |
| EDC3 Knockout A-549 Cell Line | EDJ-KQ36170 | Human | 80153 | Details Get a Quote |
| EDC3 Knockout HCT 116 Cell Line | EDJ-KQ36171 | Human | 80153 | Details Get a Quote |