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MIRAGE
solute carrier family 12 member 5
Summary
- Gene Symbol
-
- SLC12A5
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Cell projection
- Chloride
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Metal-binding
- Phosphoprotein
- Potassium transport
- Reference proteome
- Symport
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H2X9 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| ion transport | ||
| monoatomic ion transport | ||
| monoatomic ion transport | ||
| ion transport | ||
| cell volume homeostasis |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| membrane | ||
| dendrite membrane | ||
| neuron projection |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| ammonium transmembrane transporter activity | ||
| chloride transmembrane transporter activity | ||
| potassium:chloride symporter activity | ||
| potassium:chloride symporter activity | ||
| 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:0080460 | developmental and epileptic encephalopathy 34 | |
| DOID:0111315 | obsolete idiopathic generalized epilepsy 14 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 115615017 | STRHB24500 | ||
| 116452737 | CORMO05504 | ||
| 116833815 | CHEAB21096 | ||
| 117015818 | RHIFE23873 | ||
| 118308954 | SCOMX27100 | ||
| 118880830 | BALMU20234 | ||
| 122214888 | PANLE01381 | ||
| 123797064 | URSAM25436 |
