FITM2 Gene - Fat Storage-Inducing Transmembrane Protein 2
Comprehensive gene card for FITM2: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | FITM2 |
|---|---|
| Full Name | Fat Storage-Inducing Transmembrane Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 128486 ncbi.nlm.nih.gov/gene/128486 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8N6M3 |
| OMIM ID | 612029 |
| HGNC ID | 23336 |
| Aliases | C20orf142, FIT2 |
Description
FITM2 encodes a transmembrane protein localized to the endoplasmic reticulum that plays a critical role in lipid droplet biogenesis by facilitating the partitioning of triglycerides into nascent lipid droplets. It is essential for maintaining cellular lipid homeostasis and is highly conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy, familial partial, type 7 (FPLD7) | Loss-of-function mutations in FITM2 impair lipid droplet formation, leading to abnormal fat distribution and metabolic dysfunction. | OMIM #612029; PMID: 31006510 |
| Obesity susceptibility | Variants in FITM2 may alter lipid storage capacity, contributing to increased adiposity. | ClinVar; PMID: 25673435 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Skeletal muscle | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocyte cell line |
| 3T3-L1 (adipocyte) | 15.8 | Differentiated adipocytes |
| HeLa | 5.4 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.494G>A (p.Arg165His) | Missense | <0.01% | Reduced lipid droplet formation; associated with FPLD7 |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; pathogenic in FPLD7 |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations impair FITM2's ability to promote lipid droplet biogenesis, leading to lipodystrophy.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for FITM2.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet formation | • triglyceride sequestration |
| • endoplasmic reticulum membrane | • transmembrane transport |
Pathways
• Lipid droplet biogenesis
• Triglyceride metabolism
Protein Summary
FITM2 is a 262-amino-acid transmembrane protein with two predicted membrane-spanning domains. It localizes to the endoplasmic reticulum and is required for the formation of cytoplasmic lipid droplets. The protein interacts with neutral lipids to promote their deposition into droplets, thereby regulating cellular energy storage and lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FITM2 Knockout HEK293 Cell Line | EDJ-KQ9173 | Human | 128486 | Details Get a Quote |
| FITM2 Knockout A-549 Cell Line | EDJ-KQ35717 | Human | 128486 | Details Get a Quote |
| FITM2 Knockout HCT 116 Cell Line | EDJ-KQ35718 | Human | 128486 | Details Get a Quote |
| FITM2 Knockout HeLa Cell Line | EDJ-KQ35719 | Human | 128486 | Details Get a Quote |
