SLC38A2 (SNAT2): Amino Acid Transporter, Nutrient Sensor, and Cancer Metabolism Regulator
A comprehensive biomedical overview of the SLC38A2 gene, its protein product SNAT2, expression patterns, disease associations, and functional significance.
Gene Information Card
| Symbol | SLC38A2 |
|---|---|
| Full Name | solute carrier family 38 member 2 |
| Gene Type | protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 54407 ncbi.nlm.nih.gov/gene/54407 |
| Ensembl ID | ENSG00000134294 |
| UniProt ID | Q96QD8 |
| OMIM ID | 608493 |
| HGNC ID | 18707 |
| Aliases | SNAT2, ATA2, SAT2, PRO1068, KIAA1382 |
Description
SLC38A2 encodes the sodium-coupled neutral amino acid transporter 2 (SNAT2), a member of the solute carrier family 38. SNAT2 is a system A transporter that mediates the uptake of small neutral amino acids such as alanine, serine, glutamine, and glycine, coupled with sodium and proton gradients. It is widely expressed and plays a critical role in amino acid homeostasis, mTOR signaling, and cellular adaptation to nutrient stress. SLC38A2 is implicated in various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of SLC38A2 promotes amino acid uptake, supporting tumor growth and proliferation via mTORC1 activation. | Multiple studies; e.g., elevated expression in breast, lung, and liver cancers (see COSMIC and literature). |
| Diabetes/Insulin resistance | Altered SNAT2 expression affects amino acid sensing and insulin secretion in pancreatic beta cells. | Evidence from animal models and cell lines (PMID: 23460612). |
| Neurodevelopmental disorders | SLC38A2 mutations may impair glutamine transport, affecting neurotransmitter synthesis and brain development. | Rare variants reported in ClinVar and case studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | High (nTPM ~ 50-100) | High expression in hepatocytes for amino acid metabolism. |
| Kidney | High (nTPM ~ 50-100) | Involved in amino acid reabsorption. |
| Placenta | High (nTPM ~ 50-100) | Nutrient transfer to fetus. |
| Brain | Moderate (nTPM ~ 20-50) | Glutamine transport in neurons and glia. |
| Skeletal Muscle | Moderate (nTPM ~ 20-50) | Amino acid uptake for protein synthesis. |
| Pancreas | Moderate (nTPM ~ 20-50) | Beta-cell amino acid sensing. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | High | Hepatocellular carcinoma cell line. |
| A549 (lung) | High | Non-small cell lung cancer. |
| MCF7 (breast) | Moderate | Breast adenocarcinoma. |
| HEK293 (embryonic kidney) | High | Commonly used for transporter studies. |
| SH-SY5Y (neuroblastoma) | Moderate | Neuronal model. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | Rare (0.01% in gnomAD) | Reported in ClinVar; potential impact on transporter activity. |
| c.567delA (p.Lys189fs) | Frameshift | Very rare | Loss-of-function; associated with neurodevelopmental phenotype. |
| c.890A>G (p.Gln297Arg) | Missense | 0.05% | Uncertain significance; may affect substrate affinity. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SLC38A2 reduce amino acid transport, leading to impaired mTOR signaling and cellular growth. Such variants are rare and may contribute to neurodevelopmental disorders.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; however, overexpression of wild-type SLC38A2 is common in cancers, acting as an oncogenic driver.
Dominant Negative (DN)
No dominant-negative mutations have been reported for SLC38A2.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity | • sodium ion binding |
| • neutral amino acid transmembrane transporter activity | • plasma membrane |
| • integral component of membrane | • amino acid transport |
| • sodium ion transport | • response to amino acid starvation |
| • mTOR signaling pathway |
Pathways
• Amino acid transport across plasma membrane
• mTORC1 signaling
• Glutamine metabolism
• SLC-mediated transmembrane transport
Protein Summary
The SLC38A2 protein (SNAT2) is a 506-amino acid, 11-transmembrane-domain transporter. It couples sodium and proton gradients to drive the uptake of small neutral amino acids. SNAT2 is a key regulator of the amino acid-mTORC1 axis, acting as a sensor of amino acid availability. It is localized to the plasma membrane and also to intracellular vesicles, where it can be recruited to the membrane upon stimulation. SNAT2 is essential for cell growth, proliferation, and survival under nutrient stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC38A2 Knockout HEK293 Cell Line | EDJ-KQ15337 | Human | 54407 | Details Get a Quote |
| SLC38A2 Knockout HCT 116 Cell Line | EDJ-KQ46059 | Human | 54407 | Details Get a Quote |
| SLC38A2 Knockout HeLa Cell Line | EDJ-KQ46060 | Human | 54407 | Details Get a Quote |
| Slc38a2 Knockout PC12 Cell Line | EDJ-KZ473 | Rat | 29642 | Details Get a Quote |
| SLC38A2 Knockout A-549 Cell Line | EDJ-KQ64905 | Human | 54407 | Details Get a Quote |
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