| Tclin | Heat-stable enterotoxin receptor |
Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin.
This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
Comments
Property Summary
| NCBI Gene PubMed Count | 42 |
| Grant Count | 49 |
| R01 Count | 32 |
| Funding | $8,825,888.59 |
| PubMed Score | 196.49 |
| PubTator Score | 301.18 |
| Disease | log2 FC | p |
|---|---|---|
| intraductal papillary-mucinous carcinoma... | 2.300 | 0.033 |
| lung carcinoma | 1.700 | 0.000 |
| ulcerative colitis | -1.300 | 0.001 |
| PMID | Text |
|---|---|
| 26773096 | Findings show how caloric suppression of the guanylin-GUCY2C signaling axis links obesity to negation of a universal tumor suppressor pathway in colorectal cancer. |
| 25370039 | Data show that individuals affected with meconium ileus (MI) had either homozygous or compound heterozygous variants in enterotoxin receptor GUCY2C. |
| 25064385 | Transmission disequilibrium tests (TDT), case-control studies and quantitative analyses indicated association between GUC2C with Attention-deficit/hyperactivitydisorder and its core symptoms. |
| 24919572 | High guanylyl cyclase C expression is associated with colon cancer recurrence. |
| 24217248 | Intestinal cell proliferation and senescence are regulated by receptor guanylyl cyclase C and p21. |
| 24085786 | GUCY2C signaling constitutes a direct link between the initiation of colorectal cancer and the induction of its associated desmoplastic stromal niche. |
| 23269669 | Interaction with VIP36 is dependent on glycosylation at the same sites that allow GC-C to fold and bind ligand. |
| 23150200 | Data show that lower survival (OS) and disease-free survival (DFS) rates were significantly associated with guanylate cyclase C (GCC) and CK20 mRNA levels. |
| 22521417 | Mutations in GUCY2C were associated with the Meconium ileus phenotype. downregulation of GUCY2C leads to a cystic fibrosis-like intestinal phenotype. |
| 22436048 | We identified a heterozygous missense mutation (c.2519G-->T) in GUCY2C in all family members with familial diarrhea syndrome. |
| More... |
MKTLLLDLALWSLLFQPGWLSFSSQVSQNCHNGSYEISVLMMGNSAFAEPLKNLEDAVNEGLEIVRGRLQ 1 - 70 NAGLNVTVNATFMYSDGLIHNSGDCRSSTCEGLDLLRKISNAQRMGCVLIGPSCTYSTFQMYLDTELSYP 71 - 140 MISAGSFGLSCDYKETLTRLMSPARKLMYFLVNFWKTNDLPFKTYSWSTSYVYKNGTETEDCFWYLNALE 141 - 210 ASVSYFSHELGFKVVLRQDKEFQDILMDHNRKSNVIIMCGGPEFLYKLKGDRAVAEDIVIILVDLFNDQY 211 - 280 FEDNVTAPDYMKNVLVLTLSPGNSLLNSSFSRNLSPTKRDFALAYLNGILLFGHMLKIFLENGENITTPK 281 - 350 FAHAFRNLTFEGYDGPVTLDDWGDVDSTMVLLYTSVDTKKYKVLLTYDTHVNKTYPVDMSPTFTWKNSKL 351 - 420 PNDITGRGPQILMIAVFTLTGAVVLLLLVALLMLRKYRKDYELRQKKWSHIPPENIFPLETNETNHVSLK 421 - 490 IDDDKRRDTIQRLRQCKYDKKRVILKDLKHNDGNFTEKQKIELNKLLQIDYYNLTKFYGTVKLDTMIFGV 491 - 560 IEYCERGSLREVLNDTISYPDGTFMDWEFKISVLYDIAKGMSYLHSSKTEVHGRLKSTNCVVDSRMVVKI 561 - 630 TDFGCNSILPPKKDLWTAPEHLRQANISQKGDVYSYGIIAQEIILRKETFYTLSCRDRNEKIFRVENSNG 631 - 700 MKPFRPDLFLETAEEKELEVYLLVKNCWEEDPEKRPDFKKIETTLAKIFGLFHDQKNESYMDTLIRRLQL 701 - 770 YSRNLEHLVEERTQLYKAERDRADRLNFMLLPRLVVKSLKEKGFVEPELYEEVTIYFSDIVGFTTICKYS 771 - 840 TPMEVVDMLNDIYKSFDHIVDHHDVYKVETIGDAYMVASGLPKRNGNRHAIDIAKMALEILSFMGTFELE 841 - 910 HLPGLPIWIRIGVHSGPCAAGVVGIKMPRYCLFGDTVNTASRMESTGLPLRIHVSGSTIAILKRTECQFL 911 - 980 YEVRGETYLKGRGNETTYWLTGMKDQKFNLPTPPTVENQQRLQAEFSDMIANSLQKRQAAGIRSQKPRRV 981 - 1050 ASYKKGTLEYLQLNTTDKESTYF 1051 - 1073 //
| PMID | Year | Title |
|---|---|---|
| 26773096 | 2016 | Obesity-Induced Colorectal Cancer Is Driven by Caloric Silencing of the Guanylin-GUCY2C Paracrine Signaling Axis. |
| 25370039 | 2015 | Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. |
| 25064385 | 2014 | Association between GUC2C and ADHD: evidence from both categorical and quantitative traits. |
| 24919572 | 2014 | Molecular testing for lymph node metastases as a determinant of colon cancer recurrence: results from a retrospective multicenter study. |
| 24217248 | 2014 | Intestinal cell proliferation and senescence are regulated by receptor guanylyl cyclase C and p21. |
| 24085786 | 2013 | Intestinal GUCY2C prevents TGF-? secretion coordinating desmoplasia and hyperproliferation in colorectal cancer. |
| 23269669 | 2013 | Site-specific N-linked glycosylation of receptor guanylyl cyclase C regulates ligand binding, ligand-mediated activation and interaction with vesicular integral membrane protein 36, VIP36. |
| 23150200 | 2013 | Detection of circulating tumor cells in peripheral blood of colorectal cancer patients without distant organ metastases. |
| 22521417 | 2012 | Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C. |
| 22436048 | 2012 | Familial diarrhea syndrome caused by an activating GUCY2C mutation. |
| More... |
