ECRG4 (Esophageal Cancer Related Gene 4)
A tumor suppressor gene implicated in esophageal cancer and other malignancies
Gene Information Card
| Symbol | ECRG4 |
|---|---|
| Full Name | Esophageal Cancer Related Gene 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q12.2 |
| NCBI Gene ID | 285203 ncbi.nlm.nih.gov/gene/285203 |
| Ensembl ID | ENSG00000162946 |
| UniProt ID | Q9H1Z8 |
| OMIM ID | 616619 |
| HGNC ID | 24678 |
| Aliases | C2orf40, UNQ583, PRO1129 |
Description
ECRG4 (Esophageal Cancer Related Gene 4) is a protein-coding gene located on chromosome 2q12.2. It encodes a secreted protein that functions as a tumor suppressor, particularly in esophageal squamous cell carcinoma. ECRG4 is frequently downregulated or silenced by promoter hypermethylation in various cancers, and its loss is associated with increased cell proliferation, migration, and invasion. The protein is also involved in immune modulation and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Esophageal Squamous Cell Carcinoma | Downregulation via promoter hypermethylation promotes tumor growth and metastasis | NCBI Gene, OMIM |
| Gastric Cancer | Reduced expression correlates with poor prognosis and increased invasion | NCBI Gene |
| Colorectal Cancer | Silencing by methylation contributes to tumor progression | NCBI Gene |
| Prostate Cancer | Loss of expression associated with aggressive disease | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Esophagus | 0.0 | Not detected |
| Stomach | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Cervical cancer cell line |
| A549 | 0.0 | Lung cancer cell line |
| MCF7 | 0.0 | Breast cancer cell line |
| HCT116 | 0.0 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional effect |
| c.100C>T | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation leading to transcriptional silencing is the primary mechanism of loss of function in cancers.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • protein binding |
| • negative regulation of cell proliferation | • negative regulation of cell migration |
Pathways
• Tumor suppressor pathways (inferred)
Protein Summary
The ECRG4 protein is a secreted, 148-amino acid polypeptide that lacks known enzymatic domains. It is thought to act as a negative regulator of cell growth and migration, and its loss contributes to cancer progression. The protein may also have roles in immune regulation and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECRG4 Knockout HEK293 Cell Line | EDJ-KQ10080 | Human | 84417 | Details Get a Quote |
| ECRG4 Knockout HeLa Cell Line | EDJ-KQ57590 | Human | 84417 | Details Get a Quote |
| ECRG4 Knockout A-549 Cell Line | EDJ-KQ66086 | Human | 84417 | Details Get a Quote |
| ECRG4 Knockout HCT 116 Cell Line | EDJ-KQ74508 | Human | 84417 | Details Get a Quote |
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