{ "url": "https://dantelabs.com/es/genes/gucy2c", "gene": { "slug": "gucy2c", "symbol": "GUCY2C", "name": "guanylate cyclase 2C", "hgnc": "HGNC:4688", "summary": null, "location": "12p12.3", "locusType": "gene with protein product", "aliases": [ "STAR", "HSER", "GC-C", "GCC" ], "previousSymbols": [ "GUC2C" ], "ensemblId": "ENSG00000070019", "entrezId": 2984, "omim": [ "601330" ], "uniprot": [ "P25092" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 14612632, "end": 14696599, "strand": "-", "ensemblTranscript": "ENST00000261170.5", "refseqTranscript": "NM_004963.4", "ensemblProtein": "ENSP00000261170.3", "refseqProtein": "NP_004954.2", "exons": [ { "start": 14612632, "end": 14613291 }, { "start": 14614867, "end": 14614943 }, { "start": 14616633, "end": 14616727 }, { "start": 14619211, "end": 14619309 }, { "start": 14621042, "end": 14621216 }, { "start": 14622005, "end": 14622197 }, { "start": 14625757, "end": 14625915 }, { "start": 14628646, "end": 14628737 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15154615, "genes": [ { "symbol": "ATF7IP", "ensemblId": "ENSG00000171681", "biotype": "protein_coding", "start": 14365439, "end": 14502931, "strand": "+", "slug": "atf7ip" }, { "symbol": "PLBD1", "ensemblId": "ENSG00000121316", "biotype": "protein_coding", "start": 14503660, "end": 14567928, "strand": "-", "slug": "plbd1" }, { "symbol": "H4C16", "ensemblId": "ENSG00000197837", "biotype": "protein_coding", "start": 14767999, "end": 14771131, "strand": "-", "slug": "h4c16" }, { "symbol": "H2AJ", "ensemblId": "ENSG00000246705", "biotype": "protein_coding", "start": 14774405, "end": 14778002, "strand": "+", "slug": "h2aj" }, { "symbol": "WBP11", "ensemblId": "ENSG00000084463", "biotype": "protein_coding", "start": 14783595, "end": 14803510, "strand": "-", "slug": "wbp11" }, { "symbol": "C12orf60", "ensemblId": "ENSG00000182993", "biotype": "protein_coding", "start": 14802864, "end": 14906586, "strand": "+", "slug": "c12orf60" }, { "symbol": "SMCO3", "ensemblId": "ENSG00000179256", "biotype": "protein_coding", "start": 14804065, "end": 14814189, "strand": "-", "slug": "smco3" }, { "symbol": "ART4", "ensemblId": "ENSG00000111339", "biotype": "protein_coding", "start": 14822378, "end": 14843630, "strand": "-", "slug": "art4" }, { "symbol": "MGP", "ensemblId": "ENSG00000111341", "biotype": "protein_coding", "start": 14879368, "end": 14905245, "strand": "-", "slug": "mgp" }, { "symbol": "ERP27", "ensemblId": "ENSG00000139055", "biotype": "protein_coding", "start": 14912600, "end": 14938557, "strand": "-", "slug": "erp27" }, { "symbol": "ARHGDIB", "ensemblId": "ENSG00000111348", "biotype": "protein_coding", "start": 14942009, "end": 14961985, "strand": "-", "slug": "arhgdib" }, { "symbol": "PDE6H", "ensemblId": "ENSG00000139053", "biotype": "protein_coding", "start": 14949827, "end": 14982699, "strand": "+", "slug": "pde6h" }, { "symbol": "RERG", "ensemblId": "ENSG00000134533", "biotype": "protein_coding", "start": 15107783, "end": 15390485, "strand": "-", "slug": "rerg" } ], "truncated": false }, "reports": [ { "slug": "congenital-diarrhoeas-and-enteropathies", "name": "Diarreas congénitas y enteropatías", "diseases": [ { "mondoId": "MONDO:0013843", "name": "Obstrucción intestinal en el recién nacido por deficiencia de GUCY2C", "genes": 1, "inheritance": "autosomal-recessive", "description": "Pérdida de función del receptor GUCY2C que provoca íleo meconial u obstrucción intestinal en recién nacidos.", "management": "Un diagnóstico explica la obstrucción neonatal que no se debe a la fibrosis quística.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0000824", "name": "Diarrea congénita", "genes": 12, "inheritance": null, "description": "Trastornos hereditarios, entre ellos la diarrea congénita por cloruro (SLC26A3), la enfermedad por inclusión en microvellosidades (MYO5B), la enteropatía con formación de penachos (EPCAM) y la diarrea congénita por sodio (SPINT2, SLC9A3), que causan diarrea crónica desde la primera infancia.", "management": "Un diagnóstico específico orienta el tratamiento, como la reposición de electrolitos en la diarrea por cloruro, o la planificación temprana de la nutrición parenteral o del trasplante intestinal en la enfermedad por inclusión en microvellosidades y en la enteropatía con formación de penachos.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/congenital-diarrhoeas-and-enteropathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "crohn-s-disease", "name": "Crohn's disease", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/crohn-s-disease" }, { "slug": "meconium-ileus", "name": "Meconium ileus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/meconium-ileus" }, { "slug": "meteorism", "name": "Meteorism", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/meteorism" }, { "slug": "microcolon", "name": "Microcolon", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/microcolon" }, { "slug": "decreased-circulating-vitamin-b12-concentration", "name": "Vitamin B12 deficiency", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-b12-concentration" } ], "related": [ { "slug": "dgat1", "symbol": "DGAT1", "name": "diacylglycerol O-acyltransferase 1", "shared": 1, "url": "https://dantelabs.com/es/genes/dgat1" }, { "slug": "epcam", "symbol": "EPCAM", "name": "epithelial cell adhesion molecule", "shared": 1, "url": "https://dantelabs.com/es/genes/epcam" }, { "slug": "myo5b", "symbol": "MYO5B", "name": "myosin VB", "shared": 1, "url": "https://dantelabs.com/es/genes/myo5b" }, { "slug": "neurog3", "symbol": "NEUROG3", "name": "neurogenin 3", "shared": 1, "url": "https://dantelabs.com/es/genes/neurog3" }, { "slug": "plvap", "symbol": "PLVAP", "name": "plasmalemma vesicle associated protein", "shared": 1, "url": "https://dantelabs.com/es/genes/plvap" }, { "slug": "slc26a3", "symbol": "SLC26A3", "name": "solute carrier family 26 member 3", "shared": 1, "url": "https://dantelabs.com/es/genes/slc26a3" }, { "slug": "slc5a1", "symbol": "SLC5A1", "name": "solute carrier family 5 member 1", "shared": 1, "url": "https://dantelabs.com/es/genes/slc5a1" }, { "slug": "slc9a3", "symbol": "SLC9A3", "name": "solute carrier family 9 member A3", "shared": 1, "url": "https://dantelabs.com/es/genes/slc9a3" }, { "slug": "spint2", "symbol": "SPINT2", "name": "serine peptidase inhibitor, Kunitz type 2", "shared": 1, "url": "https://dantelabs.com/es/genes/spint2" }, { "slug": "stx3", "symbol": "STX3", "name": "syntaxin 3", "shared": 1, "url": "https://dantelabs.com/es/genes/stx3" }, { "slug": "wnt2b", "symbol": "WNT2B", "name": "Wnt family member 2B", "shared": 1, "url": "https://dantelabs.com/es/genes/wnt2b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }