REG4 (Regenerating Family Member 4) Gene
A comprehensive overview of REG4, including genomic context, expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | REG4 |
|---|---|
| Full Name | Regenerating Family Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p12 |
| NCBI Gene ID | 83998 ncbi.nlm.nih.gov/gene/83998 |
| Ensembl ID | ENSG00000134193 |
| UniProt ID | Q9BYJ8 |
| OMIM ID | 609846 |
| HGNC ID | 30307 |
| Aliases | REGP, GISP, REG-like protein |
Description
REG4 (regenerating family member 4) is a protein-coding gene located on chromosome 1p12. It encodes a secreted C-type lectin-like protein that belongs to the regenerating gene family. REG4 is involved in cell proliferation, differentiation, and survival, and is frequently overexpressed in gastrointestinal cancers, particularly pancreatic and colorectal cancers. It is also implicated in inflammatory bowel disease and serves as a potential biomarker for cancer diagnosis and prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatic Cancer | Overexpression of REG4 promotes tumor cell proliferation and resistance to apoptosis via activation of the EGFR/AKT signaling pathway. | PMID: 19351839; NCBI Gene |
| Colorectal Cancer | REG4 is upregulated in colorectal adenocarcinomas and associated with poor prognosis; may contribute to metastasis through Wnt/β-catenin pathway modulation. | PMID: 20010864; NCBI Gene |
| Inflammatory Bowel Disease (IBD) | REG4 expression is increased in inflamed colonic mucosa of IBD patients, possibly as a regenerative response to epithelial damage. | PMID: 17050646; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Small Intestine | 6.1 | Medium |
| Stomach | 4.2 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 15.2 | High expression |
| HT-29 (colorectal cancer) | 9.8 | Medium expression |
| Caco-2 (colorectal cancer) | 7.1 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 0.5 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.218C>T (p.Thr73Ile) | Missense | <0.01% | Unknown; rare variant reported in COSMIC |
| c.389G>A (p.Arg130His) | Missense | <0.01% | Unknown; rare variant reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in REG4.
Gain of Function (GOF)
Overexpression of wild-type REG4 is associated with oncogenic gain-of-function in pancreatic and colorectal cancers.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • carbohydrate binding (GO:0030246) |
| • cell proliferation (GO:0008283) | • negative regulation of apoptotic process (GO:0043066) |
Pathways
• EGFR/AKT signaling pathway
• Wnt/β-catenin signaling pathway
Protein Summary
REG4 encodes a 158-amino acid secreted protein containing a C-type lectin domain. The protein is involved in cell growth and survival, particularly in the gastrointestinal tract. It is overexpressed in several cancers and is considered a potential biomarker and therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REG4 Knockout HEK293 Cell Line | EDJ-KQ9956 | Human | 83998 | Details Get a Quote |
| REG4 Knockout HeLa Cell Line | EDJ-KQ57518 | Human | 83998 | Details Get a Quote |
| REG4 Knockout A-549 Cell Line | EDJ-KQ66018 | Human | 83998 | Details Get a Quote |
| REG4 Knockout HCT 116 Cell Line | EDJ-KQ74441 | Human | 83998 | Details Get a Quote |