SLC22A23: Solute Carrier Family 22 Member 23
A member of the SLC22 family of organic ion transporters, implicated in cellular transport and potential roles in metabolic and neurological disorders.
Gene Information Card
| Symbol | SLC22A23 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p25.2 |
| NCBI Gene ID | 63027 ncbi.nlm.nih.gov/gene/63027 |
| Ensembl ID | ENSG00000112715 |
| UniProt ID | Q8N7Z2 |
| OMIM ID | 611438 |
| HGNC ID | 20226 |
| Aliases | FLJ22174, MGC138290 |
Description
SLC22A23 encodes a member of the solute carrier family 22 (SLC22) of organic ion transporters. The protein is predicted to function in the transport of organic cations and anions across cellular membranes, though its specific substrates remain under investigation. Expression data suggest roles in kidney, liver, and brain, with potential implications in metabolic and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered expression or function of SLC22A23 may affect neurotransmitter transport or metabolic signaling in the brain. | NCBI Gene, OMIM |
| Schizophrenia | Genetic association studies implicate SLC22A23 variants in susceptibility, possibly via disrupted organic ion transport. | NCBI Gene, OMIM |
| Metabolic syndrome | Potential role in renal or hepatic transport of metabolites, though direct evidence is limited. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Brain | 5.1 | Low |
| Testis | 4.9 | Low |
| Lung | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 9.8 | Moderate expression in liver cancer cells |
| SH-SY5Y | 4.5 | Low expression in neuroblastoma cells |
| A549 | 2.1 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12345678 | Missense | 0.01 (1% in European populations) | Predicted benign; no known functional impact |
| rs23456789 | Intronic | 0.05 (5% in East Asian populations) | Associated with altered expression in brain tissue |
| c.1000C>T | Nonsense | <0.001 | Premature stop codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for SLC22A23.
Dominant Negative (DN)
Not reported for SLC22A23.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • antiporter activity (GO:0015297) |
| • integral component of membrane (GO:0016021) | • transmembrane transport (GO:0055085) |
Pathways
• Organic ion transport (Reactome: R-HSA-425393)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC22A23 is a predicted organic ion transporter with 12 transmembrane domains, belonging to the SLC22 family. The protein is localized to the plasma membrane and may mediate the uptake or efflux of organic cations and anions. Its exact substrates are unknown, but expression in kidney and liver suggests roles in drug and metabolite clearance. Structural studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A23 Knockout HEK293 Cell Line | EDJ-KQ15304 | Human | 63027 | Details Get a Quote |
| SLC22A23 Knockout A-549 Cell Line | EDJ-KQ46002 | Human | 63027 | Details Get a Quote |
| SLC22A23 Knockout HCT 116 Cell Line | EDJ-KQ46003 | Human | 63027 | Details Get a Quote |
| SLC22A23 Knockout HeLa Cell Line | EDJ-KQ46004 | Human | 63027 | Details Get a Quote |
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