SERINC2: Serine Incorporator 2 - Gene and Protein Function
Comprehensive biomedical overview of SERINC2, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SERINC2 |
|---|---|
| Full Name | serine incorporator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.2 |
| NCBI Gene ID | 347735 ncbi.nlm.nih.gov/gene/347735 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9NRX5 |
| OMIM ID | 614551 |
| HGNC ID | 25026 |
| Aliases | TDE1, TDE2, FLJ20273, MGC138290 |
Description
SERINC2 (serine incorporator 2) is a protein-coding gene located on chromosome 1p35.2. The encoded protein is a multi-pass membrane protein involved in the incorporation of serine into membrane lipids, particularly phosphatidylserine and sphingolipids. It plays a role in lipid metabolism and has been implicated in cancer and viral infection. SERINC2 is also known as TDE1 and TDE2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of SERINC2 may influence lipid metabolism and cell proliferation; overexpression observed in some tumors. | COSMIC; NCBI GeneRIF |
| HIV-1 infection | SERINC2 (as TDE1) can restrict HIV-1 infectivity by incorporating into viral particles; counteracted by Nef protein. | UniProt; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells; high expression |
| HeLa | 10.2 | Cervical cancer cells; moderate expression |
| A549 | 7.8 | Lung carcinoma cells; moderate expression |
| K562 | 5.1 | Leukemia cells; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | Rare | Substitution in transmembrane domain; functional impact uncertain |
| c.200G>A (p.Gly67Asp) | missense | Rare | Reported in COSMIC; possible gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in ClinVar or COSMIC for SERINC2.
Gain of Function (GOF)
Some missense variants (e.g., p.Gly67Asp) are observed in cancer samples, but functional validation is lacking.
Dominant Negative (DN)
No dominant-negative mutations described for SERINC2.
View complete mutation data：
Gene Ontology (GO)
| • long-chain fatty acid transporter activity (GO:0005324) | • phosphatidylserine biosynthetic process (GO:0006656) |
| • integral component of membrane (GO:0016021) | • ceramide biosynthetic process (GO:0046513) |
Pathways
• Sphingolipid metabolism
• Phosphatidylserine biosynthesis
Protein Summary
SERINC2 is a multi-pass transmembrane protein that facilitates the incorporation of serine into membrane lipids, particularly phosphatidylserine and sphingolipids. It is expressed in various tissues, with highest levels in testis. The protein has been implicated in HIV-1 restriction and cancer biology. Its exact molecular mechanism remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERINC2 Knockout HEK293 Cell Line | EDJ-KQ15229 | Human | 347735 | Details Get a Quote |
| SERINC2 Knockout A-549 Cell Line | EDJ-KQ45897 | Human | 347735 | Details Get a Quote |
| SERINC2 Knockout HCT 116 Cell Line | EDJ-KQ45898 | Human | 347735 | Details Get a Quote |
| SERINC2 Knockout HeLa Cell Line | EDJ-KQ45899 | Human | 347735 | Details Get a Quote |
