Summary of SLC12A2
The SLC12A2 gene encodes solute carrier family 12 member 2 [R].
SLC12A2 regulates sodium and chloride transport and reabsorption. It maintains the balance between salt and water in cells, which ensures that the cell’s volume is correct [R].
Variants in SLC12A2 have been linked to [R, R, R, R, R]:
- Neurodevelopmental disorders
- Hearing loss
- Skin & soft tissue infections
- Schizophrenia
- High blood pressure
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Protein names
Recommended name:
Solute carrier family 12 member 2Alternative name(s):
Basolateral Na-K-Cl symporterBumetanide-sensitive sodium-(potassium
- RS10089 (SLC12A2) ??
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Top Gene-Substance Interactions
SLC12A2 Interacts with These Diseases
| Disease | Score |
Substances That Increase SLC12A2
| Substances | Interaction | Organism | Category |
Substances That Decrease SLC12A2
| Substances | Interaction | Organism | Category |
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in many tissues.
Enzyme Regulation:
Activated by WNK3.
Molecular Function:
- Sodium:Potassium:Chloride Symporter Activity
- Ammonium Transmembrane Transporter Activity
- Protein Kinase Binding
Biological Processes:
- Transport
- Ion Transport
- Potassium Ion Transport
- Sodium Ion Transport
- Hyperosmotic Response
- Gamma-Aminobutyric Acid Signaling Pathway
- Aging
- Ammonium Transport
- Transepithelial Chloride Transport
- Positive Regulation Of Cell Volume
- Transepithelial Ammonium Transport