| Gene Information | |
|---|---|
| Gene Name | TSC |
| Organism | Homo sapiens (Human) |
| Gene Length | 1021 |
| Protein Names | Solute carrier family 12 member 3 (Na-Cl cotransporter) (NCC) (Na-Cl symporter) (Thiazide-sensitive sodium-chloride cotransporter) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P55017 |
| Gene Card | SLC12A3 |
| Uniprot ID | P55017 |
| Pfam | PF00324; PF08403; PF03522 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Predominantly expressed in the kidney (at protein level) (PubMed:29993276, PubMed:8812482). Localizes to the distal convoluted tubules (at protein level)(PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at protein level) (PubMed:26099046). {ECO:0000269|PubMed:26099046, ECO:0000269|PubMed:29993276, ECO:0000269|PubMed:8812482}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs371443644 rs757490496 rs763210286 rs780502516 rs768527231 rs201255508 rs1596883431 rs146632606 rs749742102 rs148945966 rs374324018 rs143714318 rs779074538 rs748547209 rs775047246 rs1274973729 rs267607050 rs779683214 rs757792232 rs772589653 rs146158333 rs759426055 rs1231715433 rs758035631 rs28936388 rs780594361 rs774753202 rs375990084 rs780461639 rs914588619 rs1529927 rs568513106 rs1380031877 rs755069436 rs753840283 rs140551719 rs748920885 rs150046661 rs770702194 rs121909383 rs773669504 rs773669504 rs187885782 rs748575829 rs775931992 rs28936387 rs759377924 rs1375515522 rs374163823 rs201945662 rs373017321 rs1355705043 rs753523115 rs777612082 rs369510226 rs781137708 rs780433336 rs748650798 rs574357286 rs1451284628 rs148038173 rs1402444800 rs1402444800 rs79351185 rs79351185 rs139329616 rs121909382 rs1222807128 rs779160677 rs779160677 rs121909385 rs121909384 rs200697179 rs200697179 rs147901432 rs140012781 rs747249619 rs121909380 rs121909380 rs771326058 rs36049418 rs373901523 rs752101663 rs757761069 rs138977195 rs368068353 rs146845953 rs1298687889 rs185927948 rs121909379 rs373899077 rs751929135 rs8060046 rs754505583 rs370301695 rs752124879 rs369360334 rs11643718 rs12708965 rs201721269 rs56125220 rs202114767 rs773428143 rs34803727 rs199849117 rs370175770 rs762026283 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:22009145}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000250|UniProtKB:P59158}; Multi-pass membrane protein {ECO:0000255}. |
| Mouse PG classification | NA |
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