EDC4: Enhancer of mRNA Decapping 4
A key component of the mRNA decapping complex involved in post-transcriptional regulation and RNA metabolism.
Gene Information Card
| Symbol | EDC4 |
|---|---|
| Full Name | Enhancer of mRNA Decapping 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 23644 ncbi.nlm.nih.gov/gene/23644 |
| Ensembl ID | ENSG00000130726 |
| UniProt ID | Q6P2E9 |
| OMIM ID | 606030 |
| HGNC ID | 28987 |
| Aliases | Hedls, Ge-1, RCD-8 |
Description
EDC4 (Enhancer of mRNA Decapping 4) encodes a scaffold protein that is a core component of the mRNA decapping complex. It localizes to processing bodies (P-bodies) and facilitates the decapping and degradation of mRNAs, thereby regulating gene expression post-transcriptionally. EDC4 interacts with DCP1 and DCP2 to promote decapping activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered EDC4 expression may affect mRNA stability of oncogenes or tumor suppressors; somatic mutations observed in COSMIC. | COSMIC |
| Neurodevelopmental disorders | Rare variants in EDC4 have been reported in patients with intellectual disability; functional impact on RNA metabolism. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain (cortex) | 12.1 | Medium |
| Liver | 8.9 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression in embryonic kidney cells |
| HeLa | 15.7 | Moderate expression in cervical cancer cells |
| K562 | 10.2 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted to cause nonsense-mediated decay |
| c.567G>A (p.Glu189Lys) | Missense | 0.2% | Unknown effect; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein likely impair decapping complex assembly and mRNA turnover.
Gain of Function (GOF)
Not reported for EDC4.
Dominant Negative (DN)
Not established; potential if truncated protein interferes with wild-type complex formation.
View complete mutation data：
Gene Ontology (GO)
| • deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290) | • P-body (GO:0000932) |
| • protein binding (GO:0005515) | • deadenylation-independent decapping of nuclear-transcribed mRNA (GO:0031087) |
| • sequence-specific mRNA binding (GO:1990825) |
Pathways
• mRNA Decapping Pathway (Reactome: R-HSA-429958)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
EDC4 is a 1401-amino acid scaffold protein that assembles the mRNA decapping complex. It contains WD40 repeats and a C-terminal domain that mediates interactions with DCP1 and DCP2. EDC4 is essential for efficient decapping and localizes to cytoplasmic P-bodies. Its expression is ubiquitous but enriched in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDC4 Knockout HEK293 Cell Line | EDJ-KQ3062 | Human | 23644 | Details Get a Quote |
| EDC4 Knockout A-549 Cell Line | EDJ-KQ24323 | Human | 23644 | Details Get a Quote |
| EDC4 Knockout HCT 116 Cell Line | EDJ-KQ24324 | Human | 23644 | Details Get a Quote |
| EDC4 Knockout HeLa Cell Line | EDJ-KQ24325 | Human | 23644 | Details Get a Quote |
