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.

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 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
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