SLC12A9: Solute Carrier Family 12 Member 9
A potassium-chloride cotransporter with emerging roles in cancer and neurodevelopment
Gene Information Card
| Symbol | SLC12A9 |
|---|---|
| Full Name | Solute Carrier Family 12 Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 56996 ncbi.nlm.nih.gov/gene/56996 |
| Ensembl ID | ENSG00000106615 |
| UniProt ID | Q9BXP2 |
| OMIM ID | 618759 |
| HGNC ID | 10978 |
| Aliases | CCC9, SLC12A8, Cation-chloride cotransporter 9 |
Description
SLC12A9 (solute carrier family 12 member 9) encodes a potassium-chloride cotransporter (KCC) family member, also known as CCC9. The protein mediates electroneutral K+/Cl- cotransport across cell membranes, playing roles in cell volume regulation, ion homeostasis, and neuronal excitability. SLC12A9 is broadly expressed in human tissues, with highest levels in brain, kidney, and testis. Mutations and altered expression have been linked to neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair K+/Cl- cotransport, disrupting neuronal chloride homeostasis | PMID: 31564436 |
| Colorectal cancer | Overexpression promotes cell proliferation and migration via altered ion transport | PMID: 29395070 |
| Glioblastoma | Upregulation associated with poor prognosis; potential role in tumor cell volume regulation | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Testis | 18.5 | High |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Colon | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.7 | High expression |
| HeLa | 9.2 | Moderate expression |
| SH-SY5Y | 16.1 | High expression |
| HCT116 | 11.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.1286G>A (p.Arg429Gln) | Missense | <0.01% | Likely loss of function; reported in ClinVar |
| c.1742_1743del (p.Leu581fs) | Frameshift | <0.01% | Loss of function; truncating variant |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in SLC12A9 impair K+/Cl- cotransport activity, leading to disrupted neuronal chloride homeostasis and neurodevelopmental phenotypes.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC12A9.
Dominant Negative (DN)
No dominant-negative mechanisms currently described for SLC12A9.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• Transport of inorganic cations/anions (Reactome: R-HSA-425393)
Protein Summary
SLC12A9 is a 1083-amino acid transmembrane protein belonging to the cation-chloride cotransporter (CCC) family. It contains 12 transmembrane domains and mediates electroneutral K+/Cl- cotransport. The protein is localized to the plasma membrane and is involved in cell volume regulation, ion homeostasis, and neuronal excitability. Post-translational modifications include glycosylation and phosphorylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC12A9 Knockout HEK293 Cell Line | EDJ-KQ15295 | Human | 56996 | Details Get a Quote |
| SLC12A9 Knockout HeLa Cell Line | EDJ-KQ17945 | Human | 56996 | Details Get a Quote |
| SLC12A9 Knockout A-549 Cell Line | EDJ-KQ45995 | Human | 56996 | Details Get a Quote |
| SLC12A9 Knockout HCT 116 Cell Line | EDJ-KQ45996 | Human | 56996 | Details Get a Quote |
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