ERG28: Endoplasmic Reticulum Protein 28
A conserved ER-resident protein involved in lipid metabolism and sterol biosynthesis.
Gene Information Card
| Symbol | ERG28 |
|---|---|
| Full Name | endoplasmic reticulum protein 28 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 11161 ncbi.nlm.nih.gov/gene/11161 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9H6K4 |
| OMIM ID | 617063 |
| HGNC ID | 29297 |
| Aliases | C14orf1, CGI-38, dJ434O11.1 |
Description
ERG28 (endoplasmic reticulum protein 28) is a protein-coding gene located on chromosome 14q24.3. The encoded protein is a conserved component of the endoplasmic reticulum membrane and is involved in lipid metabolism, particularly in the sterol biosynthetic pathway. It may function as a scaffold or regulator of enzymes in the ER. The gene is ubiquitously expressed with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.1 | Low |
| Brain | 6.4 | Low |
| Lung | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Liver cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar or COSMIC | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • integral component of membrane (GO:0016021) |
| • sterol biosynthetic process (GO:0006694) | • lipid metabolic process (GO:0006629) |
Pathways
• Sterol biosynthesis (Reactome: R-HSA-191273)
Protein Summary
ERG28 is a 28 kDa endoplasmic reticulum membrane protein with a single transmembrane domain. It is predicted to act as a scaffold or regulator in the sterol biosynthesis pathway, interacting with enzymes such as squalene epoxidase. The protein is conserved across eukaryotes and is ubiquitously expressed, with highest levels in metabolically active tissues like liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERG28 Knockout HEK293 Cell Line | EDJ-KQ7309 | Human | 11161 | Details Get a Quote |
| ERG28 Knockout A-549 Cell Line | EDJ-KQ32364 | Human | 11161 | Details Get a Quote |
| ERG28 Knockout HCT 116 Cell Line | EDJ-KQ32365 | Human | 11161 | Details Get a Quote |
| ERG28 Knockout HeLa Cell Line | EDJ-KQ32366 | Human | 11161 | Details Get a Quote |
