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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
solute carrier family 12 member 6
Summary
- Gene Symbol
-
- SLC12A6
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative promoter usage
- Alternative splicing
- Cell membrane
- Charcot-Marie-Tooth disease
- Chloride
- Disease variant
- Disulfide bond
- Glycoprotein
- Metal-binding
- Neurodegeneration
- Phosphoprotein
- Potassium transport
- Reference proteome
- Symport
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cellular hypotonic salinity response | ||
| cell volume homeostasis | ||
| potassium ion import across plasma membrane | ||
| potassium ion homeostasis | ||
| chloride transmembrane transport |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| potassium ion transmembrane transporter activity | ||
| metal ion binding | ||
| protein kinase binding | ||
| potassium:chloride symporter activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Solute carrier family 12 member
- Functional Category
-
- E: Amino acid transport and metabolism
- K: Transcription
- M: Cell wall/membrane/envelope biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| cell volume homeostasis |
| chloride ion homeostasis |
| chloride transmembrane transport |
| chloride |
| monoatomic ion transport |
| potassium ion homeostasis |
| InterPro |
|---|
| Amino acid permease/ SLC12A domain |
| SLC12A transporter family |
| SLC12A transporter, C-terminal |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
| DOID:10595 | Charcot-Marie-Tooth disease | |
| DOID:1826 | epilepsy | |
| DOID:2477 | motor peripheral neuropathy |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 37800 | FB:FBgn0261794 | |||
| 107723 | MGI:2135960 | MOUSE34964 | ||
| 177370 | WB:WBGene00019205 | |||
| 362189 | RGD:1311335 | |||
| 478239 | CANLF12349 | |||
| 521217 | BOVIN00951 | |||
| 619227 | CIOIN15401 | |||
| 691209 | RATNO26857 | |||
| 697536 | MACMU42489 | |||
| 750207 | 9598_0:003e2e | PANTR09890 |
