SEC14L2 Gene
SEC14-like lipid binding 2
Gene Information Card
| Symbol | SEC14L2 |
|---|---|
| Full Name | SEC14-like lipid binding 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 23541 ncbi.nlm.nih.gov/gene/23541 |
| Ensembl ID | ENSG00000100298 |
| UniProt ID | O76054 |
| OMIM ID | 607558 |
| HGNC ID | 10700 |
| Aliases | TAP, SPF, hTAP, SEC14L2 |
Description
SEC14L2 encodes a cytosolic protein that binds and transports lipids, particularly phosphatidylinositol and phosphatidylcholine. It is involved in lipid metabolism, cellular signaling, and regulation of cholesterol biosynthesis. The protein is also known as TAP (tocopherol-associated protein) and SPF (supernatant protein factor), and it stimulates squalene monooxygenase activity in cholesterol synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered expression may influence lipid signaling and tumor progression; SEC14L2 is a candidate tumor suppressor in prostate cancer. | PMID: 15604204, COSMIC |
| Breast cancer | Differential expression observed; potential role in lipid metabolism affecting cancer cell growth. | PMID: 20628086, COSMIC |
| Colorectal cancer | Mutations and expression changes reported; involvement in lipid-mediated signaling. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Prostate | 8.7 | Medium |
| Breast | 6.5 | Low |
| Colon | 5.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| LNCaP | 7.8 | Prostate cancer cell line |
| MCF7 | 5.9 | Breast cancer cell line |
| HT-29 | 4.5 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.452G>A (p.Arg151His) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.688C>T (p.Arg230*) | Nonsense | <0.01% | Predicted loss-of-function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg230*) likely lead to truncated protein and loss of lipid-binding function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Lipid transport (Reactome: R-HSA-1483257)
Protein Summary
SEC14L2 is a 403-amino acid protein containing a SEC14 domain that binds phosphatidylinositol and phosphatidylcholine. It localizes to the cytosol and stimulates squalene monooxygenase, a key enzyme in cholesterol synthesis. The protein also interacts with alpha-tocopherol (vitamin E) and may modulate cellular responses to oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC14L2 Knockout HEK293 Cell Line | EDJ-KQ8053 | Human | 23541 | Details Get a Quote |
| SEC14L2 Knockout A-549 Cell Line | EDJ-KQ33868 | Human | 23541 | Details Get a Quote |
| SEC14L2 Knockout HCT 116 Cell Line | EDJ-KQ33869 | Human | 23541 | Details Get a Quote |
| SEC14L2 Knockout HeLa Cell Line | EDJ-KQ33870 | Human | 23541 | Details Get a Quote |
