SLC6A18
Solute Carrier Family 6 Member 18
Gene Information Card
| Symbol | SLC6A18 |
|---|---|
| Full Name | solute carrier family 6 member 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 348932 ncbi.nlm.nih.gov/gene/348932 |
| Ensembl ID | ENSG00000164326 |
| UniProt ID | Q96N87 |
| OMIM ID | 610300 |
| HGNC ID | 20242 |
| Aliases | XTRP2, B(0)AT3, FLJ31236 |
Description
SLC6A18 (solute carrier family 6 member 18) is a protein-coding gene located on chromosome 5p15.33. It encodes a sodium- and chloride-dependent transporter that mediates the uptake of neutral amino acids, particularly glycine. The protein is primarily expressed in kidney and brain tissues and is involved in neurotransmitter transport and amino acid homeostasis. Variants in SLC6A18 have been associated with iminoglycinuria and hyperglycinuria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Iminoglycinuria | Defective renal reabsorption of glycine and imino acids due to loss-of-function variants in SLC6A18 | PMID: 19279020 |
| Hyperglycinuria | Increased urinary excretion of glycine caused by impaired SLC6A18 transporter activity | PMID: 19279020 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 5.1 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in transfected cells |
| SH-SY5Y | 6.8 | Moderate expression |
| HepG2 | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1195C>T (p.Arg399*) | Nonsense | <0.01% | Loss of function |
| c.1462G>A (p.Gly488Arg) | Missense | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that disrupt transporter activity lead to reduced glycine reabsorption in kidney.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • amino acid: sodium symporter activity (GO:0005283) | • neutral amino acid transmembrane transporter activity (GO:0015175) |
| • symporter activity (GO:0015293) | • integral component of plasma membrane (GO:0005887) |
| • neurotransmitter transport (GO:0006836) | • neutral amino acid transport (GO:0015804) |
Pathways
• REACT:13685 – Neurotransmitter uptake and metabolism
• REACT:17015 – Transport of inorganic cations/anions and amino acids/oligopeptides
Protein Summary
The SLC6A18 protein (UniProt Q96N87) is a 638-amino acid multi-pass membrane protein belonging to the SLC6 family of sodium- and chloride-dependent transporters. It functions as a symporter that co-transports neutral amino acids (especially glycine) with sodium and chloride ions across the plasma membrane. The protein is predominantly expressed in the kidney proximal tubule and brain, where it plays a role in amino acid reabsorption and neurotransmitter homeostasis. Structural features include 12 transmembrane domains and conserved N-glycosylation sites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A18 Knockout HEK293 Cell Line | EDJ-KQ15284 | Human | 348932 | Details Get a Quote |
| SLC6A18 Knockout HeLa Cell Line | EDJ-KQ59840 | Human | 348932 | Details Get a Quote |
| SLC6A18 Knockout A-549 Cell Line | EDJ-KQ68306 | Human | 348932 | Details Get a Quote |
| SLC6A18 Knockout HCT 116 Cell Line | EDJ-KQ76679 | Human | 348932 | Details Get a Quote |
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