ERP44 Gene - Endoplasmic Reticulum Protein 44
Comprehensive gene card for ERP44: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | ERP44 |
|---|---|
| Full Name | Endoplasmic Reticulum Protein 44 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 23071 ncbi.nlm.nih.gov/gene/23071 |
| Ensembl ID | ENSG00000107262 |
| UniProt ID | Q9BS26 |
| OMIM ID | 609156 |
| HGNC ID | 24620 |
| Aliases | PDIA10, TXNDC4, ERp44 |
Description
ERP44 (Endoplasmic Reticulum Protein 44) encodes a member of the thioredoxin family of endoplasmic reticulum (ER) proteins. The protein acts as a chaperone and oxidoreductase, playing a key role in protein folding, quality control, and redox homeostasis within the ER. It interacts with ERO1A and other ER oxidoreductases to regulate disulfide bond formation and prevent ER stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ERP44 expression may alter ER stress response and protein folding, contributing to tumor progression. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Impaired ER protein folding and redox imbalance linked to ERP44 dysfunction. | UniProt, literature |
| Diabetes | ER stress and beta-cell dysfunction associated with altered ERP44 activity. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma |
| HEK293 | 13.8 | Embryonic kidney |
| HeLa | 11.2 | Cervical adenocarcinoma |
| A549 | 9.5 | Lung carcinoma |
| MCF7 | 8.1 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Potential impact on protein folding activity |
| c.454C>T (p.Arg152Trp) | Missense | <0.01% | Unknown functional effect |
| c.788A>G (p.Asn263Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endoplasmic reticulum protein processing (KEGG: hsa04141)
• Unfolded protein response (UPR) (Reactome: R-HSA-381119)
Protein Summary
ERP44 is a 44 kDa endoplasmic reticulum-resident protein belonging to the thioredoxin superfamily. It contains a thioredoxin-like domain and a C-terminal ER retention signal (KDEL). ERP44 functions as a chaperone and oxidoreductase, facilitating proper protein folding and disulfide bond formation. It interacts with ERO1A to regulate oxidative protein folding and prevent accumulation of misfolded proteins. ERP44 is ubiquitously expressed with higher levels in secretory tissues such as liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERP44 Knockout HEK293 Cell Line | EDJ-KQ7808 | Human | 23071 | Details Get a Quote |
| ERP44 Knockout HCT 116 Cell Line | EDJ-KQ32002 | Human | 23071 | Details Get a Quote |
| ERP44 Knockout A-549 Cell Line | EDJ-KQ33329 | Human | 23071 | Details Get a Quote |
| ERP44 Knockout HeLa Cell Line | EDJ-KQ33330 | Human | 23071 | Details Get a Quote |
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