FNIP2 Gene
Folliculin Interacting Protein 2
Gene Information Card
| Symbol | FNIP2 |
|---|---|
| Full Name | Folliculin Interacting Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.21 |
| NCBI Gene ID | 57600 ncbi.nlm.nih.gov/gene/57600 |
| Ensembl ID | ENSG00000152795 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 614406 |
| HGNC ID | 19829 |
| Aliases | FNIPL, KIAA1450, MAPO1 |
Description
FNIP2 (Folliculin Interacting Protein 2) encodes a protein that interacts with folliculin (FLCN) and is involved in the regulation of AMPK and mTOR signaling pathways. It plays a role in energy sensing, cell growth, and metabolism. Mutations in FNIP2 are associated with Birt-Hogg-Dubé syndrome and renal cell carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Birt-Hogg-Dubé syndrome | Loss of FNIP2 function disrupts FLCN complex, leading to dysregulated mTOR signaling and tumorigenesis | ClinVar, OMIM |
| Renal cell carcinoma (non-papillary) | Somatic mutations and copy number alterations in FNIP2 contribute to mTOR pathway activation | COSMIC, ClinVar |
| Colorectal cancer | FNIP2 mutations identified in tumor samples, potential role in metabolic reprogramming | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| A549 | 10.1 | Lung carcinoma |
| HeLa | 9.7 | Cervical adenocarcinoma |
| MCF7 | 7.3 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250G>A (p.Arg417Gln) | Missense | 0.02% | Alters FLCN binding, reduced AMPK signaling |
| c.1876C>T (p.Arg626Trp) | Missense | 0.01% | Impaired mTOR regulation |
| c.2245_2246del (p.Leu749fs) | Frameshift | <0.01% | Loss of function, truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein, disrupting FLCN complex and AMPK signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg417Gln) may interfere with wild-type FNIP2 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • AMP-activated protein kinase activity | • protein kinase binding |
| • signal transduction | • regulation of cell growth |
| • cellular response to nutrient levels |
Pathways
• mTOR signaling pathway (Reactome: R-HSA-165159)
• AMPK signaling (KEGG: hsa04152)
• Birt-Hogg-Dubé syndrome pathway
Protein Summary
FNIP2 is a 1114-amino acid protein that forms a complex with folliculin (FLCN) and FNIP1. It acts as a scaffold for AMPK and mTOR, regulating cellular energy homeostasis. The protein contains a DENN domain and is localized to the cytoplasm. Mutations in FNIP2 are linked to hereditary cancer syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FNIP2 Knockout HEK293 Cell Line | EDJ-KQ1153 | Human | 57600 | Details Get a Quote |
| FNIP2 Knockout A-549 Cell Line | EDJ-KQ20381 | Human | 57600 | Details Get a Quote |
| FNIP2 Knockout HCT 116 Cell Line | EDJ-KQ20382 | Human | 57600 | Details Get a Quote |
| FNIP2 Knockout HeLa Cell Line | EDJ-KQ20383 | Human | 57600 | Details Get a Quote |
