SLC6A20
Summary: Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 6 member 20 | MIM:605616 | Ensembl:ENSG00000163817 | HGNC:HGNC:30927 | PA134865308 | 3p21.31 |
GO terms in SLC6A20
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0005215 | transporter activity |
| MF | IEA | GO:0005328 | neurotransmitter:sodium symporter activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0015171 | amino acid transmembrane transporter activity |
| MF | TAS | GO:0015171 | amino acid transmembrane transporter activity |
| MF | IBA | GO:0015193 | L-proline transmembrane transporter activity |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0016324 | apical plasma membrane |
| CC | IEA | GO:0031526 | brush border membrane |
| BP | IEA | GO:0003333 | amino acid transmembrane transport |
| BP | IDA | GO:0006865 | amino acid transport |
| BP | TAS | GO:0006865 | amino acid transport |
| BP | IMP | GO:0015816 | glycine transport |
| BP | IMP | GO:0015824 | proline transport |
| BP | IBA | GO:0035725 | sodium ion transmembrane transport |
Gene expression in normal tissue: SLC6A20
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC6A20
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-352230 | Amino acid transport across the plasma membrane |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425366 | Transport of bile salts and organic acids, metal ions and amine compounds |
| reactome | R-HSA-425393 | Transport of inorganic cations/anions and amino acids/oligopeptides |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-442660 | Na+/Cl- dependent neurotransmitter transporters |
| reactome | R-HSA-5619101 | Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) |
| reactome | R-HSA-5619102 | SLC transporter disorders |
| reactome | R-HSA-5619115 | Disorders of transmembrane transporters |
| reactome | R-HSA-5660686 | Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG) |
| wikipathways | WP2882 | Nuclear Receptors Meta-Pathway |
| wikipathways | WP2884 | NRF2 pathway |
| smpdb | SMP00078 | Chlorothiazide Action Pathway |
| smpdb | SMP00080 | Polythiazide Action Pathway |
| smpdb | SMP00081 | Methyclothiazide Action Pathway |
| smpdb | SMP00088 | Bumetanide Action Pathway |
| smpdb | SMP00090 | Bendroflumethiazide Action Pathway |
| smpdb | SMP00091 | Quinethazone Action Pathway |
| smpdb | SMP00097 | Ethacrynic Acid Action Pathway |
| smpdb | SMP00100 | Hydrochlorothiazide Action Pathway |
| smpdb | SMP00103 | Cyclothiazide Action Pathway |
| smpdb | SMP00105 | Metolazone Action Pathway |
| smpdb | SMP00108 | Hydroflumethiazide Action Pathway |
| smpdb | SMP00110 | Indapamide Action Pathway |
| smpdb | SMP00115 | Furosemide Action Pathway |
| smpdb | SMP00118 | Torsemide Action Pathway |
| smpdb | SMP00121 | Trichlormethiazide Action Pathway |
| smpdb | SMP00122 | Chlorthalidone Action Pathway |
| smpdb | SMP00132 | Triamterene Action Pathway |
| smpdb | SMP00133 | Amiloride Action Pathway |
| smpdb | SMP00134 | Spironolactone Action Pathway |
| smpdb | SMP00135 | Eplerenone Action Pathway |
| smpdb | SMP00184 | Glucose Transporter Defect (SGLT2) |
| smpdb | SMP00189 | Hartnup Disorder |
| smpdb | SMP00193 | Iminoglycinuria |
| smpdb | SMP00197 | Lysinuric Protein Intolerance |
| smpdb | SMP00245 | Glucose Transporter Defect (SGLT2) |
| smpdb | SMP00483 | Kidney Function |
| smpdb | SMP00583 | Blue diaper syndrome |
| smpdb | SMP00585 | Lysinuric protein intolerance (LPI) |
| smpdb | SMP00723 | Cystinuria |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC6A20
CLASSFICATION
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