| Tclin | Solute carrier family 12 member 3 |
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Comments
Property Summary
| Ligand Count | 13 |
| NCBI Gene PubMed Count | 116 |
| PubMed Score | 634.19 |
| PubTator Score | 285.46 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hypertension | 396 | 4.737 | 2.4 |
| Gitelman syndrome | 6 | 0.0 | 5.0 |
| Kidney Diseases | 114 | 0.0 | 0.0 |
| Vascular Diseases | 16 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 6.4e-23 |
| ovarian cancer | 8520 | 1.5e-08 |
| osteosarcoma | 7950 | 3.3e-05 |
| malignant mesothelioma | 3232 | 1.8e-03 |
| cutaneous lupus erythematosus | 1057 | 4.6e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cardiovascular system disease | 246 | 0.0 | 3.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Kidney disease | 430 | 5.39 | 2.7 |
| Cerebrovascular disease | 238 | 4.769 | 2.4 |
| Hyperaldosteronism | 35 | 4.482 | 2.2 |
| Ureterolithiasis | 4 | 4.372 | 2.2 |
| Chondrocalcinosis | 9 | 3.969 | 2.0 |
| Calcinosis | 70 | 3.641 | 1.8 |
| Polyhydramnios | 108 | 3.549 | 1.8 |
| Metabolic acidosis | 90 | 3.199 | 1.6 |
| EAST syndrome | 5 | 3.103 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| cutaneous lupus erythematosus | 1.700 | 4.6e-03 |
| malignant mesothelioma | 1.100 | 1.8e-03 |
| osteosarcoma | -1.034 | 3.3e-05 |
| ovarian cancer | 1.200 | 1.5e-08 |
| psoriasis | 1.900 | 6.4e-23 |
trichlormethiazide
A2 7.00
polythiazide
A2 9.09
indapamide
A2 7.54
hydroflumethiazide
A2 7.37
hydrochlorothiazide
A2 7.01
chlorothiazide
A2 5.43
benzthiazide
A2 8.17
bendroflumethiazide
A2 8.30
MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNTIDVVPTYEHY 1 - 70 ANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEGEAGTSSEKNPEEPVRFGWVK 71 - 140 GVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVTVTSITGLSISAISTNGKVKSGGTYFLISRS 141 - 210 LGPELGGSIGLIFAFANAVGVAMHTVGFAETVRDLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGME 211 - 280 WESKAQVLFFLVIMVSFANYLVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPS 281 - 350 ATGILAGANISGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA 351 - 420 CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVFQCLCEDQLYP 421 - 490 LIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSYALINFSCFHASITNSPGWRP 491 - 560 SFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLLLYVIYKKPEVNWGSSVQAGSYNLALSYSVG 561 - 630 LNEVEDHIKNYRPQCLVLTGPPNFRPALVDFVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWL 631 - 700 NKRKIKAFYSDVIAEDLRRGVQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYG 701 - 770 VCVMRMREGLNVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG 771 - 840 GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDINQNPRAEHTKR 841 - 910 FEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLNEIVLDYSRDAALIVITLPIG 911 - 980 RKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYCQ 981 - 1021 //
