{ "url": "https://dantelabs.com/pt/genes/klf11", "gene": { "slug": "klf11", "symbol": "KLF11", "name": "KLF transcription factor 11", "hgnc": "HGNC:11811", "summary": null, "location": "2p25.1", "locusType": "gene with protein product", "aliases": [ "Tieg3", "MODY7", "FKLF" ], "previousSymbols": [ "TIEG2" ], "ensemblId": "ENSG00000172059", "entrezId": 8462, "omim": [ "603301" ], "uniprot": [ "O14901" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 10043550, "end": 10054836, "strand": "+", "ensemblTranscript": "ENST00000305883.6", "refseqTranscript": "NM_003597.5", "ensemblProtein": "ENSP00000307023.1", "refseqProtein": "NP_003588.1", "exons": [ { "start": 10043550, "end": 10043758 }, { "start": 10046150, "end": 10046419 }, { "start": 10047650, "end": 10048595 }, { "start": 10052227, "end": 10054836 } ], "cds": { "start": 10043717, "end": 10052507 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 10182976, "end": 10194963, "strand": "+" }, "neighbourhood": { "release": "116", "start": 9549193, "end": 10549192, "genes": [ { "symbol": "ADAM17", "ensemblId": "ENSG00000151694", "biotype": "protein_coding", "start": 9488482, "end": 9556732, "strand": "-", "slug": "adam17" }, { "symbol": "YWHAQ", "ensemblId": "ENSG00000134308", "biotype": "protein_coding", "start": 9583334, "end": 9639472, "strand": "-", "slug": "ywhaq" }, { "symbol": "TAF1B", "ensemblId": "ENSG00000115750", "biotype": "protein_coding", "start": 9843340, "end": 9934994, "strand": "+", "slug": "taf1b" }, { "symbol": "GRHL1", "ensemblId": "ENSG00000134317", "biotype": "protein_coding", "start": 9951678, "end": 10002355, "strand": "+", "slug": "grhl1" }, { "symbol": "CYS1", "ensemblId": "ENSG00000205795", "biotype": "protein_coding", "start": 10056473, "end": 10080944, "strand": "-", "slug": "cys1" }, { "symbol": "RRM2", "ensemblId": "ENSG00000171848", "biotype": "protein_coding", "start": 10120698, "end": 10213114, "strand": "+", "slug": "rrm2" }, { "symbol": "HPCAL1", "ensemblId": "ENSG00000115756", "biotype": "protein_coding", "start": 10297410, "end": 10427835, "strand": "+", "slug": "hpcal1" }, { "symbol": "ODC1", "ensemblId": "ENSG00000115758", "biotype": "protein_coding", "start": 10435417, "end": 10450116, "strand": "-", "slug": "odc1" } ], "truncated": false }, "reports": [ { "slug": "diabetes-mellitus", "name": "Diabetes Mellitus", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabetes Mellitus", "genes": 31, "inheritance": null, "description": "Uma perturbação metabólica caracterizada por níveis anormalmente elevados de açúcar no sangue, devido a uma produção reduzida de insulina ou a resistência/dessensibilização à insulina.", "management": "Teplizumab (Tzield) para a diabetes tipo 1 pré-sintomática em estádio 2 (aprovado pela FDA em 2022); substituição de insulina no início clínico da diabetes tipo 1; rastreio de autoanticorpos da TrialNet em familiares de alto risco; sistemas de administração de insulina em circuito fechado", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/diabetes-mellitus" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Diabetes de Início na Maturidade em Jovens (MODY)", "diseases": [ { "mondoId": "MONDO:0018911", "name": "Diabetes de Início na Maturidade em Jovens (MODY)", "genes": 12, "inheritance": "autosomal-dominant", "description": "O MODY (diabetes de início na maturidade em jovens) é uma forma rara, familiar e heterogénea, do ponto de vista clínico e genético, de diabetes, caracterizada por um início em idade jovem (geralmente entre os 10 e os 45 anos), com manutenção da produção endógena de insulina, ausência de autoimunidade das células beta do pâncreas, ausência de obesidade e de resistência à insulina e, em alguns subtipos, manifestações extrapancreáticas.", "management": "MODY-GCK: não é necessário tratamento; MODY-HNF1A/HNF4A: sulfonilureias em baixa dose; MODY-HNF1B: insulina e monitorização renal; DT2 poligénica: modificação do estilo de vida, metformina, agonistas do GLP-1, inibidores do SGLT2, consoante o perfil de comorbilidades", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/maturity-onset-diabetes-of-the-young" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-c-peptide-concentration", "name": "Abnormal circulating C-peptide concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-c-peptide-concentration" }, { "slug": "abnormal-circulating-insulin-concentration", "name": "Abnormal circulating insulin concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration" }, { "slug": "abnormal-oral-glucose-tolerance", "name": "Abnormal oral glucose tolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-oral-glucose-tolerance" }, { "slug": "abnormality-of-the-genitourinary-system", "name": "Abnormality of the genitourinary system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system" }, { "slug": "abnormality-of-the-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "autoimmune-antibody-positivity", "name": "Autoimmune antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity" }, { "slug": "large-for-gestational-age", "name": "Birth weight > 90th percentile", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/large-for-gestational-age" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "acanthosis-nigricans", "name": "Darkened and thickened skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/acanthosis-nigricans" }, { "slug": "diabetic-ketoacidosis", "name": "Diabetic ketoacidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/diabetic-ketoacidosis" }, { "slug": "elevated-hemoglobin-a1c", "name": "Elevated hemoglobin A1c", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "hepatocellular-adenoma", "name": "Hepatocellular adenoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatocellular-adenoma" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "hyperinsulinemic-hypoglycemia", "name": "Hyperinsulinemic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperinsulinemic-hypoglycemia" }, { "slug": "hypoinsulinemia", "name": "Hypoinsulinemia", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoinsulinemia" }, { "slug": "exocrine-pancreatic-insufficiency", "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency" }, { "slug": "insulin-resistant-diabetes-mellitus", "name": "Insulin resistant diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus" }, { "slug": "nephropathy", "name": "Kidney damage", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephropathy" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "slug": "maturity-onset-diabetes-of-the-young", "name": "Maturity-onset diabetes of the young", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/maturity-onset-diabetes-of-the-young" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "type-ii-diabetes-mellitus", "name": "Noninsulin-dependent diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "overweight", "name": "Overweight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overweight" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "transient-neonatal-diabetes-mellitus", "name": "Transient neonatal diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/transient-neonatal-diabetes-mellitus" }, { "slug": "pancreatic-hypoplasia", "name": "Underdeveloped pancreas", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pancreatic-hypoplasia" } ], "related": [ { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 2, "url": "https://dantelabs.com/pt/genes/abcc8" }, { "slug": "appl1", "symbol": "APPL1", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/appl1" }, { "slug": "cel", "symbol": "CEL", "name": "carboxyl ester lipase", "shared": 2, "url": "https://dantelabs.com/pt/genes/cel" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 2, "url": "https://dantelabs.com/pt/genes/gck" }, { "slug": "hnf1a", "symbol": "HNF1A", "name": "HNF1 homeobox A", "shared": 2, "url": "https://dantelabs.com/pt/genes/hnf1a" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 2, "url": "https://dantelabs.com/pt/genes/hnf1b" }, { "slug": "hnf4a", "symbol": "HNF4A", "name": "hepatocyte nuclear factor 4 alpha", "shared": 2, "url": "https://dantelabs.com/pt/genes/hnf4a" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 2, "url": "https://dantelabs.com/pt/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 2, "url": "https://dantelabs.com/pt/genes/kcnj11" }, { "slug": "neurod1", "symbol": "NEUROD1", "name": "neuronal differentiation 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/neurod1" }, { "slug": "pdx1", "symbol": "PDX1", "name": "pancreatic and duodenal homeobox 1", "shared": 2, "url": "https://dantelabs.com/pt/genes/pdx1" }, { "slug": "akt2", "symbol": "AKT2", "name": "AKT serine/threonine kinase 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/akt2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }