{ "url": "https://dantelabs.com/de/genes/neurog3", "gene": { "slug": "neurog3", "symbol": "NEUROG3", "name": "neurogenin 3", "hgnc": "HGNC:13806", "summary": null, "location": "10q22.1", "locusType": "gene with protein product", "aliases": [ "Atoh5", "Math4B", "ngn3", "bHLHa7" ], "previousSymbols": [], "ensemblId": "ENSG00000122859", "entrezId": 50674, "omim": [ "604882" ], "uniprot": [ "Q9Y4Z2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 69571698, "end": 69573422, "strand": "-", "ensemblTranscript": "ENST00000242462.5", "refseqTranscript": "NM_020999.4", "ensemblProtein": "ENSP00000242462.4", "refseqProtein": "NP_066279.2", "exons": [ { "start": 69571698, "end": 69573044 }, { "start": 69573210, "end": 69573422 } ], "cds": { "start": 69572399, "end": 69573043 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 71331454, "end": 71332994, "strand": "-" }, "neighbourhood": { "release": "116", "start": 69072560, "end": 70072559, "genes": [ { "symbol": "SRGN", "ensemblId": "ENSG00000122862", "biotype": "protein_coding", "start": 69087579, "end": 69105696, "strand": "+", "slug": "srgn" }, { "symbol": "VPS26A", "ensemblId": "ENSG00000122958", "biotype": "protein_coding", "start": 69123512, "end": 69174412, "strand": "+", "slug": "vps26a" }, { "symbol": "SUPV3L1", "ensemblId": "ENSG00000156502", "biotype": "protein_coding", "start": 69180234, "end": 69209108, "strand": "+", "slug": "supv3l1" }, { "symbol": "HKDC1", "ensemblId": "ENSG00000156510", "biotype": "protein_coding", "start": 69220292, "end": 69267569, "strand": "+", "slug": "hkdc1" }, { "symbol": "HK1", "ensemblId": "ENSG00000156515", "biotype": "protein_coding", "start": 69269984, "end": 69403497, "strand": "+", "slug": "hk1" }, { "symbol": "TACR2", "ensemblId": "ENSG00000075073", "biotype": "protein_coding", "start": 69402885, "end": 69416923, "strand": "-", "slug": "tacr2" }, { "symbol": "TSPAN15", "ensemblId": "ENSG00000099282", "biotype": "protein_coding", "start": 69451150, "end": 69507676, "strand": "+", "slug": "tspan15" }, { "symbol": "FAM241B", "ensemblId": "ENSG00000171224", "biotype": "protein_coding", "start": 69630228, "end": 69633614, "strand": "+", "slug": "fam241b" }, { "symbol": "COL13A1", "ensemblId": "ENSG00000197467", "biotype": "protein_coding", "start": 69801875, "end": 69964275, "strand": "+", "slug": "col13a1" }, { "symbol": "MACROH2A2", "ensemblId": "ENSG00000099284", "biotype": "protein_coding", "start": 70052544, "end": 70112282, "strand": "+", "slug": "macroh2a2" }, { "symbol": "AIFM2", "ensemblId": "ENSG00000042286", "biotype": "protein_coding", "start": 70054661, "end": 70133269, "strand": "-", "slug": "aifm2" } ], "truncated": false }, "reports": [ { "slug": "congenital-diarrhoeas-and-enteropathies", "name": "Angeborene Diarrhöen und Enteropathien", "diseases": [ { "mondoId": "MONDO:0000824", "name": "Angeborene Diarrhö", "genes": 12, "inheritance": null, "description": "Erbliche Erkrankungen, darunter die angeborene Chlorid-Diarrhö (SLC26A3), die Mikrovilli-Inklusionskrankheit (MYO5B), die Tufting-Enteropathie (EPCAM) und die angeborene Natrium-Diarrhö (SPINT2, SLC9A3), die von früher Kindheit an chronische Diarrhöen verursachen.", "management": "Eine gezielte Diagnose lenkt die Behandlung, etwa den Ersatz von Elektrolyten bei Chlorid-Diarrhö oder die frühzeitige Planung einer parenteralen Ernährung oder Darmtransplantation bei Mikrovilli-Inklusionskrankheit und Tufting-Enteropathie.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/congenital-diarrhoeas-and-enteropathies" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabetes mellitus", "genes": 31, "inheritance": null, "description": "Eine Stoffwechselstörung, die durch ungewöhnlich hohe Blutzuckerwerte infolge einer verminderten Insulinproduktion oder einer Insulinresistenz bzw. verminderten Insulinsensitivität gekennzeichnet ist.", "management": "Teplizumab (Tzield) bei präsymptomatischem T1D im Stadium 2 (FDA-Zulassung 2022); Insulinsubstitution bei klinischer Manifestation von T1D; TrialNet-Autoantikörper-Screening für Verwandte mit hohem Risiko; Closed-Loop-Insulinabgabesysteme", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/diabetes-mellitus" }, { "slug": "neonatal-diabetes-mellitus", "name": "Neonatale Diabetes mellitus", "diseases": [ { "mondoId": "MONDO:0016391", "name": "Neonatale Diabetes mellitus", "genes": 20, "inheritance": null, "description": "Diabetes, der in den ersten Lebensmonaten diagnostiziert wird, entweder dauerhaft oder vorübergehend, verursacht durch Defekte einzelner Gene bei der Insulinbildung oder -sekretion.", "management": "Die meisten Menschen mit neonataler Diabetes aufgrund von KCNJ11- oder ABCC8-Varianten können von Insulininjektionen auf Sulfonylharnstoff-Tabletten umstellen, oft mit besserer Blutzuckereinstellung.", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/neonatal-diabetes-mellitus" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cellular-phenotype", "name": "Abnormal cellular phenotype", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cellular-phenotype" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "cholestatic-liver-disease", "name": "Cholestatic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholestatic-liver-disease" }, { "slug": "dehydration", "name": "Dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dehydration" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "enteric-anendocrinosis", "name": "Enteric anendocrinosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/enteric-anendocrinosis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fat-malabsorption", "name": "Fat malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fat-malabsorption" }, { "slug": "cholelithiasis", "name": "Gallstones", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholelithiasis" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "hyperchloremic-metabolic-acidosis", "name": "Hyperchloremic metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperchloremic-metabolic-acidosis" }, { "slug": "increased-stool-alpha1-antitrypsin-concentration", "name": "Increased stool alpha1-antitrypsin concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-stool-alpha1-antitrypsin-concentration" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "tetany", "name": "Intermittent involuntary muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tetany" }, { "slug": "intractable-diarrhea", "name": "Intractable diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intractable-diarrhea" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "macrovesicular-hepatic-steatosis", "name": "Macrovesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrovesicular-hepatic-steatosis" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "microvesicular-hepatic-steatosis", "name": "Microvesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "type-i-diabetes-mellitus", "name": "Type 1 diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "rickets", "name": "Weak and soft bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rickets" } ], "related": [ { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 2, "url": "https://dantelabs.com/de/genes/abcc8" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/de/genes/bscl2" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 2, "url": "https://dantelabs.com/de/genes/eif2b1" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 2, "url": "https://dantelabs.com/de/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 2, "url": "https://dantelabs.com/de/genes/gata6" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 2, "url": "https://dantelabs.com/de/genes/gck" }, { "slug": "glis3", "symbol": "GLIS3", "name": "GLIS family zinc finger 3", "shared": 2, "url": "https://dantelabs.com/de/genes/glis3" }, { "slug": "hnf1b", "symbol": "HNF1B", "name": "HNF1 homeobox B", "shared": 2, "url": "https://dantelabs.com/de/genes/hnf1b" }, { "slug": "il2ra", "symbol": "IL2RA", "name": "interleukin 2 receptor subunit alpha", "shared": 2, "url": "https://dantelabs.com/de/genes/il2ra" }, { "slug": "ins", "symbol": "INS", "name": "insulin", "shared": 2, "url": "https://dantelabs.com/de/genes/ins" }, { "slug": "kcnj11", "symbol": "KCNJ11", "name": "potassium inwardly rectifying channel subfamily J member 11", "shared": 2, "url": "https://dantelabs.com/de/genes/kcnj11" }, { "slug": "mnx1", "symbol": "MNX1", "name": "motor neuron and pancreas homeobox 1", "shared": 2, "url": "https://dantelabs.com/de/genes/mnx1" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }