BTC (Betacellulin) Gene
EGF Family Growth Factor Involved in Cell Proliferation and Differentiation
Gene Information Card
| Symbol | BTC |
|---|---|
| Full Name | Betacellulin |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 685 ncbi.nlm.nih.gov/gene/685 |
| Ensembl ID | ENSG00000174807 |
| UniProt ID | P35070 |
| OMIM ID | 600345 |
| HGNC ID | 1121 |
| Aliases | betacellulin, BTC |
Description
The BTC gene encodes betacellulin, a member of the epidermal growth factor (EGF) family. It is synthesized as a transmembrane precursor and proteolytically cleaved to release a soluble growth factor that binds to and activates the EGF receptor (EGFR/ErbB1) and ErbB4. Betacellulin plays a role in cell proliferation, differentiation, and survival, with particular importance in pancreatic beta-cell development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Betacellulin promotes beta-cell proliferation and insulin secretion; altered expression may contribute to beta-cell dysfunction. | PMID: 10821842, OMIM #600345 |
| Pancreatic Cancer | Overexpression of BTC and EGFR signaling is implicated in pancreatic tumorigenesis. | PMID: 15604241, COSMIC |
| Breast Cancer | BTC expression is elevated in some breast cancers and may promote tumor growth via ErbB receptors. | PMID: 10652366, COSMIC |
| Gastric Cancer | BTC upregulation correlates with poor prognosis and increased cell proliferation. | PMID: 19029980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 6.1 | Low |
| Small Intestine | 5.4 | Low |
| Stomach | 4.8 | Low |
| Breast | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PANC-1 (pancreatic cancer) | 15.2 | High expression |
| MCF-7 (breast cancer) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 6.3 | Low expression |
| HeLa (cervical cancer) | 4.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Met) | missense | <0.01% | Rare variant; no known disease association |
| c.482G>A (p.Arg161Gln) | missense | <0.01% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in BTC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression is more common in cancer.
Dominant Negative (DN)
Not described for BTC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• EGFR tyrosine kinase inhibitor resistance (KEGG: hsa01521)
• ErbB signaling pathway (KEGG: hsa04012)
• Regulation of insulin secretion (Reactome: R-HSA-422356)
Protein Summary
Betacellulin is a 178-amino acid precursor protein with a signal peptide, an EGF-like domain, and a transmembrane region. The mature soluble form (80 amino acids) is released after proteolytic cleavage. It binds EGFR and ErbB4 with high affinity, activating downstream MAPK and PI3K/AKT pathways. The protein is essential for pancreatic beta-cell growth and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTC Knockout HEK293 Cell Line | EDJ-KQ4151 | Human | 685 | Details Get a Quote |
| BTC Knockout A-549 Cell Line | EDJ-KQ26589 | Human | 685 | Details Get a Quote |
| BTC Knockout HCT 116 Cell Line | EDJ-KQ26590 | Human | 685 | Details Get a Quote |
| BTC Knockout HeLa Cell Line | EDJ-KQ52735 | Human | 685 | Details Get a Quote |
