ERP27 Gene - Endoplasmic Reticulum Protein 27
Comprehensive gene information for ERP27, including genomic context, expression, and clinical relevance.
Gene Information Card
| Symbol | ERP27 |
|---|---|
| Full Name | Endoplasmic Reticulum Protein 27 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 121506 ncbi.nlm.nih.gov/gene/121506 |
| Ensembl ID | ENSG00000139219 |
| UniProt ID | Q96C19 |
| OMIM ID | 618583 |
| HGNC ID | 28587 |
| Aliases | PDIA6P1, ERP27, ERp27 |
Description
ERP27 (Endoplasmic Reticulum Protein 27) is a protein-coding gene located on chromosome 12q24.13. It encodes a member of the protein disulfide isomerase (PDI) family, localized to the endoplasmic reticulum. ERP27 is involved in protein folding and quality control, though it lacks the canonical thioredoxin active site. The gene is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of ERP27 may promote tumor growth and metastasis through ER stress modulation. | COSMIC, ClinVar |
| Colorectal cancer | Altered ERP27 expression linked to poor prognosis; potential role in unfolded protein response. | COSMIC, NCBI Gene |
| Hepatocellular carcinoma | Upregulation of ERP27 associated with aggressive tumor features. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Pancreas | 7.1 | Medium |
| Lung | 5.9 | Low |
| Breast | 4.2 | Low |
| Colon | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| MCF7 | 6.8 | Breast cancer cell line |
| A549 | 5.1 | Lung carcinoma cell line |
| HT-29 | 4.5 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1? – start loss, likely loss of function |
| c.124C>T | Missense | <0.01% | p.Arg42Cys – unknown significance |
| c.256G>A | Missense | <0.01% | p.Gly86Ser – unknown significance |
| c.389T>C | Missense | <0.01% | p.Leu130Pro – unknown significance |
Mutation functional classification
Loss of Function (LOF)
Start loss variant c.1A>G likely leads to loss of protein function.
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)
| • endoplasmic reticulum (GO:0005783) | • protein disulfide isomerase activity (GO:0003756) |
| • protein folding (GO:0006457) | • response to endoplasmic reticulum stress (GO:0034976) |
Pathways
• Unfolded Protein Response (UPR)
• Endoplasmic Reticulum Protein Processing
Protein Summary
ERP27 is a 27 kDa endoplasmic reticulum-resident protein belonging to the PDI family. It contains a thioredoxin-like domain but lacks the catalytic cysteine pair, suggesting a role in substrate binding rather than redox catalysis. ERP27 is involved in protein folding and quality control within the ER, and its expression is upregulated under ER stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERP27 Knockout HEK293 Cell Line | EDJ-KQ8029 | Human | 121506 | Details Get a Quote |
| ERP27 Knockout HeLa Cell Line | EDJ-KQ58087 | Human | 121506 | Details Get a Quote |
| ERP27 Knockout A-549 Cell Line | EDJ-KQ66574 | Human | 121506 | Details Get a Quote |
| ERP27 Knockout HCT 116 Cell Line | EDJ-KQ74990 | Human | 121506 | Details Get a Quote |
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