ECD (Ecdysoneless Cell Cycle Regulator) Gene
A comprehensive overview of the ECD gene, its function, expression, and associated diseases.
Gene Information Card
| Symbol | ECD |
|---|---|
| Full Name | Ecdysoneless Cell Cycle Regulator |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 11319 ncbi.nlm.nih.gov/gene/11319 |
| Ensembl ID | ENSG00000120053 |
| UniProt ID | O95905 |
| OMIM ID | 606798 |
| HGNC ID | 3241 |
| Aliases | GCR2, HSGP25L2G, SGT1, ecdysoneless homolog |
Description
The ECD gene encodes the ecdysoneless protein, a conserved regulator of cell cycle progression and RNA polymerase II transcription. It is involved in the G1/S phase transition and interacts with the Mediator complex. Mutations and altered expression of ECD have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of ECD promotes cell proliferation and tumor growth; knockdown reduces tumorigenicity in vitro and in vivo. | PMID: 21804531 |
| Colorectal cancer | ECD is upregulated and associated with poor prognosis; silencing ECD inhibits cell proliferation and induces apoptosis. | PMID: 27840973 |
| Hepatocellular carcinoma | ECD overexpression correlates with advanced stage and metastasis; promotes EMT via AKT signaling. | PMID: 29367608 |
| Ovarian cancer | ECD amplification and overexpression linked to chemoresistance and poor survival. | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 22.3 | High |
| Bone marrow | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Muscle | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.1 | High expression |
| HeLa | 22.8 | High expression |
| MCF7 | 19.4 | Medium expression |
| HepG2 | 15.6 | Medium expression |
| A549 | 12.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.1468G>A (p.Glu490Lys) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.1741_1742insA (p.Thr581Asnfs*2) | Frameshift | <0.01% | Predicted loss of function |
| c.196C>T (p.Arg66*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr581Asnfs*2, p.Arg66*) are predicted to cause loss of function via nonsense-mediated decay or truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Transcriptional regulation by the Mediator complex (Reactome: R-HSA-212436)
• G1/S Transition (Reactome: R-HSA-69206)
Protein Summary
The ecdysoneless protein (UniProt O95905) is a 645-amino acid nuclear protein that plays a role in cell cycle progression, particularly the G1/S transition. It interacts with the Mediator complex and RNA polymerase II to regulate transcription. The protein is conserved across species and is essential for embryonic development. Its overexpression in multiple cancers suggests an oncogenic role.
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