SLC38A6: Solute Carrier Family 38 Member 6
A sodium-coupled neutral amino acid transporter with roles in glutamine and alanine transport.
Gene Information Card
| Symbol | SLC38A6 |
|---|---|
| Full Name | Solute carrier family 38 member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q23.3 |
| NCBI Gene ID | 145389 ncbi.nlm.nih.gov/gene/145389 |
| Ensembl ID | ENSG00000163069 |
| UniProt ID | Q5T6X5 |
| OMIM ID | 616518 |
| HGNC ID | 26979 |
| Aliases | SNAT6, FLJ20489 |
Description
SLC38A6 encodes a member of the solute carrier family 38 (SLC38) of sodium-coupled neutral amino acid transporters. The protein functions as a system N transporter, mediating the uptake of glutamine, alanine, and other neutral amino acids in a sodium-dependent manner. It is expressed in various tissues, including brain, kidney, and liver, and plays a role in amino acid homeostasis and nitrogen metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Impaired glutamine transport affecting neurotransmitter synthesis | ClinVar: pathogenic missense variants reported |
| Cancer (glioma) | Altered amino acid supply promoting tumor growth | COSMIC: somatic mutations observed in CNS tumors |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Liver | 6.1 | Low |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Moderate expression |
| HepG2 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Reduced glutamine transport activity |
| c.1054C>T (p.Arg352Trp) | Missense | <0.01% | Loss of function in cellular assays |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly248Arg) impair amino acid transport activity.
Gain of Function (GOF)
Not documented in curated databases.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • neutral amino acid transmembrane transporter activity (GO:0015175) | • integral component of plasma membrane (GO:0005887) |
| • neutral amino acid transport (GO:0015804) | • transmembrane transport (GO:0055085) |
Pathways
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC38A6 is a 506-amino acid transmembrane protein with 11 predicted helices. It belongs to the SLC38 family of sodium-coupled neutral amino acid transporters (system N). The protein localizes to the plasma membrane and mediates the electrogenic uptake of glutamine, alanine, and other neutral amino acids. It is highly expressed in brain and kidney, and its dysfunction is linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC38A6 Knockout HEK293 Cell Line | EDJ-KQ10440 | Human | 145389 | Details Get a Quote |
| SLC38A6 Knockout A-549 Cell Line | EDJ-KQ37814 | Human | 145389 | Details Get a Quote |
| SLC38A6 Knockout HCT 116 Cell Line | EDJ-KQ37815 | Human | 145389 | Details Get a Quote |
| SLC38A6 Knockout HeLa Cell Line | EDJ-KQ37816 | Human | 145389 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
