{ "url": "https://dantelabs.com/da/genes/stat6", "gene": { "slug": "stat6", "symbol": "STAT6", "name": "signal transducer and activator of transcription 6", "hgnc": "HGNC:11368", "summary": null, "location": "12q13.3", "locusType": "gene with protein product", "aliases": [ "D12S1644", "IL-4-STAT" ], "previousSymbols": [], "ensemblId": "ENSG00000166888", "entrezId": 6778, "omim": [ "601512" ], "uniprot": [ "P42226" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 57095408, "end": 57111362, "strand": "-", "ensemblTranscript": "ENST00000300134.8", "refseqTranscript": "NM_003153.5", "ensemblProtein": "ENSP00000300134.3", "refseqProtein": "NP_003144.3", "exons": [ { "start": 57095408, "end": 57096761 }, { "start": 57096850, "end": 57096978 }, { "start": 57097068, "end": 57097133 }, { "start": 57098505, "end": 57098597 }, { "start": 57098792, "end": 57098902 }, { "start": 57099015, "end": 57099078 }, { "start": 57099294, "end": 57099440 }, { "start": 57099767, "end": 57099903 }, { "start": 57099996, "end": 57100090 }, { "start": 57102290, "end": 57102496 }, { "start": 57102829, "end": 57102921 }, { "start": 57104464, "end": 57104586 }, { "start": 57104726, "end": 57104813 }, { "start": 57105151, "end": 57105339 }, { "start": 57105468, "end": 57105599 }, { "start": 57106191, "end": 57106339 }, { "start": 57106528, "end": 57106580 }, { "start": 57106693, "end": 57106831 }, { "start": 57107231, "end": 57107314 }, { "start": 57107605, "end": 57107743 }, { "start": 57108163, "end": 57108299 }, { "start": 57111129, "end": 57111362 } ], "cds": { "start": 57096572, "end": 57108278 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 57489191, "end": 57525922, "strand": "-" }, "neighbourhood": { "release": "116", "start": 56603385, "end": 57603384, "genes": [ { "symbol": "RBMS2", "ensemblId": "ENSG00000076067", "biotype": "protein_coding", "start": 56521807, "end": 56617037, "strand": "+", "slug": "rbms2" }, { "symbol": "BAZ2A", "ensemblId": "ENSG00000076108", "biotype": "protein_coding", "start": 56595596, "end": 56636914, "strand": "-", "slug": "baz2a" }, { "symbol": "ATP5F1B", "ensemblId": "ENSG00000110955", "biotype": "protein_coding", "start": 56637490, "end": 56646079, "strand": "-", "slug": "atp5f1b" }, { "symbol": "PTGES3", "ensemblId": "ENSG00000110958", "biotype": "protein_coding", "start": 56651663, "end": 56688408, "strand": "-", "slug": "ptges3" }, { "symbol": "NACA", "ensemblId": "ENSG00000196531", "biotype": "protein_coding", "start": 56712305, "end": 56731628, "strand": "-", "slug": "naca" }, { "symbol": "", "ensemblId": "ENSG00000285625", "biotype": "protein_coding", "start": 56714612, "end": 56741535, "strand": "-" }, { "symbol": "PRIM1", "ensemblId": "ENSG00000198056", "biotype": "protein_coding", "start": 56730438, "end": 56752384, "strand": "-", "slug": "prim1" }, { "symbol": "HSD17B6", "ensemblId": "ENSG00000025423", "biotype": "protein_coding", "start": 56751817, "end": 56788409, "strand": "+", "slug": "hsd17b6" }, { "symbol": "SDR9C7", "ensemblId": "ENSG00000170426", "biotype": "protein_coding", "start": 56923133, "end": 56934408, "strand": "-", "slug": "sdr9c7" }, { "symbol": "RDH16", "ensemblId": "ENSG00000139547", "biotype": "protein_coding", "start": 56950087, "end": 56959374, "strand": "-", "slug": "rdh16" }, { "symbol": "ACKR5", "ensemblId": "ENSG00000166856", "biotype": "protein_coding", "start": 56994487, "end": 56998889, "strand": "+", "slug": "ackr5" }, { "symbol": "ZBTB39", "ensemblId": "ENSG00000166860", "biotype": "protein_coding", "start": 56998836, "end": 57006560, "strand": "-", "slug": "zbtb39" }, { "symbol": "TAC3", "ensemblId": "ENSG00000166863", "biotype": "protein_coding", "start": 57010000, "end": 57028883, "strand": "-", "slug": "tac3" }, { "symbol": "MYO1A", "ensemblId": "ENSG00000166866", "biotype": "protein_coding", "start": 57025262, "end": 57051198, "strand": "-", "slug": "myo1a" }, { "symbol": "NEMP1", "ensemblId": "ENSG00000166881", "biotype": "protein_coding", "start": 57055641, "end": 57088063, "strand": "-", "slug": "nemp1" }, { "symbol": "NAB2", "ensemblId": "ENSG00000166886", "biotype": "protein_coding", "start": 57088883, "end": 57095476, "strand": "+", "slug": "nab2" }, { "symbol": "LRP1", "ensemblId": "ENSG00000123384", "biotype": "protein_coding", "start": 57128476, "end": 57213394, "strand": "+", "slug": "lrp1" }, { "symbol": "NXPH4", "ensemblId": "ENSG00000182379", "biotype": "protein_coding", "start": 57216780, "end": 57226449, "strand": "+", "slug": "nxph4" }, { "symbol": "SHMT2", "ensemblId": "ENSG00000182199", "biotype": "protein_coding", "start": 57226554, "end": 57234935, "strand": "+", "slug": "shmt2" }, { "symbol": "COXFA4L2", "ensemblId": "ENSG00000185633", "biotype": "protein_coding", "start": 57234541, "end": 57242750, "strand": "-", "slug": "coxfa4l2" }, { "symbol": "STAC3", "ensemblId": "ENSG00000185482", "biotype": "protein_coding", "start": 57243453, "end": 57251195, "strand": "-", "slug": "stac3" }, { "symbol": "", "ensemblId": "ENSG00000258830", "biotype": "protein_coding", "start": 57249609, "end": 57296484, "strand": "-" }, { "symbol": "R3HDM2", "ensemblId": "ENSG00000179912", "biotype": "protein_coding", "start": 57253762, "end": 57431051, "strand": "-", "slug": "r3hdm2" }, { "symbol": "INHBC", "ensemblId": "ENSG00000175189", "biotype": "protein_coding", "start": 57434700, "end": 57452067, "strand": "+", "slug": "inhbc" }, { "symbol": "INHBE", "ensemblId": "ENSG00000139269", "biotype": "protein_coding", "start": 57452323, "end": 57459280, "strand": "+", "slug": "inhbe" }, { "symbol": "GLI1", "ensemblId": "ENSG00000111087", "biotype": "protein_coding", "start": 57459783, "end": 57472268, "strand": "+", "slug": "gli1" }, { "symbol": "ARHGAP9", "ensemblId": "ENSG00000123329", "biotype": "protein_coding", "start": 57472260, "end": 57488831, "strand": "-", "slug": "arhgap9" }, { "symbol": "MARS1", "ensemblId": "ENSG00000166986", "biotype": "protein_coding", "start": 57475445, "end": 57517702, "strand": "+", "slug": "mars1" }, { "symbol": "DDIT3", "ensemblId": "ENSG00000175197", "biotype": "protein_coding", "start": 57516584, "end": 57523630, "strand": "-", "slug": "ddit3" }, { "symbol": "", "ensemblId": "ENSG00000285133", "biotype": "protein_coding", "start": 57517712, "end": 57520480, "strand": "-" }, { "symbol": "MBD6", "ensemblId": "ENSG00000166987", "biotype": "protein_coding", "start": 57520710, "end": 57530614, "strand": "+", "slug": "mbd6" }, { "symbol": "DCTN2", "ensemblId": "ENSG00000175203", "biotype": "protein_coding", "start": 57529567, "end": 57547256, "strand": "-", "slug": "dctn2" }, { "symbol": "KIF5A", "ensemblId": "ENSG00000155980", "biotype": "protein_coding", "start": 57546026, "end": 57586633, "strand": "+", "slug": "kif5a" }, { "symbol": "PIP4K2C", "ensemblId": "ENSG00000166908", "biotype": "protein_coding", "start": 57591161, "end": 57603418, "strand": "+", "slug": "pip4k2c" } ], "truncated": false }, "reports": [ { "slug": "hyper-ige-syndrome", "name": "Hyper-IgE-syndrom", "diseases": [ { "mondoId": "MONDO:0018037", "name": "Hyper-IgE-syndrom", "genes": 7, "inheritance": null, "description": "En tilstand, der kendetegnes ved forhøjet IgE i serum, dermatitis og luftvejsinfektioner.", "management": null, "evidence": { "gencc": [ "ClinGen", "PanelApp Australia" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/da/conditions/hyper-ige-syndrome" }, { "slug": "immunodeficiency-disease", "name": "Andre medfødte immunsvigt", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Medfødt immundefekt", "genes": 114, "inheritance": null, "description": "Arvelige sygdomme i immunsystemet, forårsaget af ændringer i enkelte gener, som påvirker kroppens evne til at bekæmpe infektioner eller regulere inflammation.", "management": null, "evidence": { "gencc": [ "ClinGen", "PanelApp Australia" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immunsvigtsygdom", "genes": 170, "inheritance": null, "description": "Sygdom, hvor der er mangel på eller defekt i immunforsvarets mekanismer, enten cellulære eller humorale.", "management": "HSCT ved SCID og alvorlige PID'er; immunglobulinbehandling (IVIG/SCIG) ved antistofmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4-/LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD", "evidence": { "gencc": [ "ClinGen", "PanelApp Australia" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/da/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-mediastinum-morphology", "name": "Abnormal mediastinum morphology", "systems": [ "abnormality-of-the-thoracic-cavity" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-mediastinum-morphology" }, { "slug": "abnormal-peritoneum-morphology", "name": "Abnormal peritoneum morphology", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-peritoneum-morphology" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "abnormal-forehead-morphology", "name": "Abnormality of the forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-forehead-morphology" }, { "slug": "abnormal-prostate-morphology", "name": "Abnormality of the prostate", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-prostate-morphology" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "anaphylactic-shock", "name": "Anaphylaxis", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anaphylactic-shock" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "b-cell-lymphoma", "name": "B-cell lymphoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/b-cell-lymphoma" }, { "slug": "atopic-dermatitis", "name": "Baby eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atopic-dermatitis" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "decreased-circulating-c-peptide-concentration", "name": "Decreased circulating C-peptide concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/decreased-circulating-c-peptide-concentration" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "eosinophilic-infiltration-of-the-esophagus", "name": "Eosinophilic infiltration of the esophagus", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/eosinophilic-infiltration-of-the-esophagus" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/fever" }, { "slug": "food-allergy", "name": "Food allergy", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/food-allergy" }, { "slug": "gastrointestinal-eosinophilia", "name": "Gastrointestinal eosinophilia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrointestinal-eosinophilia" }, { "slug": "genital-neoplasm", "name": "Genital tumor", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/genital-neoplasm" }, { "slug": "increased-total-eosinophil-count", "name": "High blood eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-total-eosinophil-count" }, { "slug": "hypoinsulinemia", "name": "Hypoinsulinemia", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoinsulinemia" }, { "slug": "hypophosphatemic-rickets", "name": "Hypophosphatemic rickets", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypophosphatemic-rickets" }, { "slug": "increased-circulating-ige-concentration", "name": "Increased circulating IgE concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration" }, { "slug": "neoplasm-of-the-liver", "name": "Liver cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-liver" }, { "slug": "loss-of-consciousness", "name": "Loss of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/loss-of-consciousness" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "low-back-pain", "name": "Lumbago", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/low-back-pain" }, { "slug": "neoplasm-of-the-lung", "name": "Lung cancer", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-lung" }, { "slug": "neoplasia-of-the-pleura", "name": "Neoplasia of the pleura", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasia-of-the-pleura" }, { "slug": "neoplasm-of-the-nervous-system", "name": "Nervous system cancer", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-nervous-system" }, { "slug": "night-sweats", "name": "Night sweats", "systems": [ "constitutional-symptom" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/night-sweats" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "pelvic-mass", "name": "Pelvic mass", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pelvic-mass" }, { "slug": "prostate-cancer", "name": "Prostate cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/prostate-cancer" }, { "slug": "recurrent-hypoglycemia", "name": "Recurrent low blood sugar levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/recurrent-hypoglycemia" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "recurrent-viral-infections", "name": "Recurrent viral infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-viral-infections" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "soft-tissue-neoplasm", "name": "Soft tissue neoplasm", "systems": [ "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/soft-tissue-neoplasm" }, { "slug": "urinary-retention", "name": "Urinary retention", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/urinary-retention" }, { "slug": "uterine-neoplasm", "name": "Uterine cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/uterine-neoplasm" }, { "slug": "vaginal-neoplasm", "name": "Vaginal tumor", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/vaginal-neoplasm" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "dock8", "symbol": "DOCK8", "name": "dedicator of cytokinesis 8", "shared": 3, "url": "https://dantelabs.com/da/genes/dock8" }, { "slug": "il6r", "symbol": "IL6R", "name": "interleukin 6 receptor", "shared": 3, "url": "https://dantelabs.com/da/genes/il6r" }, { "slug": "il6st", "symbol": "IL6ST", "name": "interleukin 6 cytokine family signal transducer", "shared": 3, "url": "https://dantelabs.com/da/genes/il6st" }, { "slug": "spink5", "symbol": "SPINK5", "name": "serine peptidase inhibitor Kazal type 5", "shared": 3, "url": "https://dantelabs.com/da/genes/spink5" }, { "slug": "stat3", "symbol": "STAT3", "name": "signal transducer and activator of transcription 3", "shared": 3, "url": "https://dantelabs.com/da/genes/stat3" }, { "slug": "znf341", "symbol": "ZNF341", "name": "zinc finger protein 341", "shared": 3, "url": "https://dantelabs.com/da/genes/znf341" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/da/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/da/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/da/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/da/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/da/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/da/genes/btk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }