FAM3C (FAM3 Metabolism Regulator C)
A secreted protein involved in glucose metabolism, pancreatic beta-cell function, and potential roles in diabetes and cancer.
Gene Information Card
| Symbol | FAM3C |
|---|---|
| Full Name | FAM3 Metabolism Regulator C |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 10447 ncbi.nlm.nih.gov/gene/10447 |
| Ensembl ID | ENSG00000106336 |
| UniProt ID | Q92520 |
| OMIM ID | 608618 |
| HGNC ID | 14682 |
| Aliases | GSG, 2-19 |
Description
FAM3C (FAM3 Metabolism Regulator C) is a member of the FAM3 gene family, which encodes secreted proteins with a cytokine-like structure. It is widely expressed and plays a role in glucose homeostasis, pancreatic beta-cell survival, and insulin secretion. FAM3C has been implicated in type 2 diabetes and certain cancers, where it may influence cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | FAM3C is downregulated in pancreatic islets of diabetic individuals; reduced expression impairs glucose-stimulated insulin secretion and beta-cell survival. | PMID: 22991414 |
| Pancreatic Cancer | Overexpression of FAM3C in pancreatic ductal adenocarcinoma correlates with poor prognosis and may promote tumor cell migration. | PMID: 25986610 |
| Colorectal Cancer | FAM3C expression is elevated in colorectal cancer tissues and associated with advanced tumor stage and metastasis. | PMID: 27683074 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 10.8 | Hepatocellular carcinoma cell line |
| MCF7 | 6.5 | Breast cancer cell line |
| PANC-1 | 18.3 | Pancreatic cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging by in silico tools; no clinical association reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in FAM3C.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in FAM3C.
Dominant Negative (DN)
No dominant-negative mutations reported in FAM3C.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Insulin secretion pathway (Reactome: R-HSA-422356)
• Regulation of beta-cell development (KEGG: hsa04930)
Protein Summary
FAM3C is a 224-amino acid secreted protein containing a signal peptide and a cytokine-like domain. It is synthesized as a precursor and processed to a mature form. The protein is involved in glucose metabolism and beta-cell function, potentially through autocrine/paracrine signaling. Its expression is regulated by glucose and insulin, and dysregulation is linked to metabolic disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM3C Knockout HEK293 Cell Line | EDJ-KQ50972 | Human | 10447 | Details Get a Quote |
| FAM3C Knockout HeLa Cell Line | EDJ-KQ55410 | Human | 10447 | Details Get a Quote |
| FAM3C Knockout A-549 Cell Line | EDJ-KQ63891 | Human | 10447 | Details Get a Quote |
| FAM3C Knockout HCT 116 Cell Line | EDJ-KQ72348 | Human | 10447 | Details Get a Quote |
