{ "url": "https://dantelabs.com/sv/genes/jak3", "gene": { "slug": "jak3", "symbol": "JAK3", "name": "Janus kinase 3", "hgnc": "HGNC:6193", "summary": null, "location": "19p13.11", "locusType": "gene with protein product", "aliases": [ "L-JAK", "JAKL", "LJAK", "JAK3_HUMAN", "JAK-3" ], "previousSymbols": [], "ensemblId": "ENSG00000105639", "entrezId": 3718, "omim": [ "600173" ], "uniprot": [ "P52333" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 17824782, "end": 17847982, "strand": "-", "ensemblTranscript": "ENST00000458235.7", "refseqTranscript": "NM_000215.4", "ensemblProtein": "ENSP00000391676.1", "refseqProtein": "NP_000206.2", "exons": [ { "start": 17824782, "end": 17826910 }, { "start": 17830108, "end": 17830218 }, { "start": 17830503, "end": 17830620 }, { "start": 17831228, "end": 17831400 }, { "start": 17831674, "end": 17831798 }, { "start": 17832519, "end": 17832708 }, { "start": 17832790, "end": 17832929 }, { "start": 17834571, "end": 17834721 }, { 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"+", "slug": "map1s" }, { "symbol": "FCHO1", "ensemblId": "ENSG00000130475", "biotype": "protein_coding", "start": 17747701, "end": 17788572, "strand": "+", "slug": "fcho1" }, { "symbol": "B3GNT3", "ensemblId": "ENSG00000179913", "biotype": "protein_coding", "start": 17794697, "end": 17814175, "strand": "+", "slug": "b3gnt3" }, { "symbol": "INSL3", "ensemblId": "ENSG00000248099", "biotype": "protein_coding", "start": 17816512, "end": 17821574, "strand": "-", "slug": "insl3" }, { "symbol": "RPL18A", "ensemblId": "ENSG00000105640", "biotype": "protein_coding", "start": 17859868, "end": 17871283, "strand": "+", "slug": "rpl18a" }, { "symbol": "SLC5A5", "ensemblId": "ENSG00000105641", "biotype": "protein_coding", "start": 17871939, "end": 17895174, "strand": "+", "slug": "slc5a5" }, { "symbol": "CCDC124", "ensemblId": "ENSG00000007080", "biotype": "protein_coding", "start": 17932588, "end": 17944914, "strand": "+", "slug": "ccdc124" }, { "symbol": "KCNN1", "ensemblId": "ENSG00000105642", "biotype": "protein_coding", "start": 17947484, "end": 18000085, "strand": "+", "slug": "kcnn1" }, { "symbol": "ARRDC2", "ensemblId": "ENSG00000105643", "biotype": "protein_coding", "start": 18001126, "end": 18015694, "strand": "+", "slug": "arrdc2" }, { "symbol": "IL12RB1", "ensemblId": "ENSG00000096996", "biotype": "protein_coding", "start": 18058995, "end": 18098944, "strand": "-", "slug": "il12rb1" }, { "symbol": "MAST3", "ensemblId": "ENSG00000099308", "biotype": "protein_coding", "start": 18097749, "end": 18151692, "strand": "+", "slug": "mast3" }, { "symbol": "PIK3R2", "ensemblId": "ENSG00000105647", "biotype": "protein_coding", "start": 18153155, "end": 18170541, "strand": "+", "slug": "pik3r2" }, { "symbol": "", "ensemblId": "ENSG00000268173", "biotype": "protein_coding", "start": 18153158, "end": 18178117, "strand": "+" }, { "symbol": "IFI30", "ensemblId": "ENSG00000216490", "biotype": "protein_coding", "start": 18173150, "end": 18178122, "strand": "+", "slug": "ifi30" }, { "symbol": "MPV17L2", "ensemblId": "ENSG00000254858", "biotype": "protein_coding", "start": 18193197, "end": 18196948, "strand": "+", "slug": "mpv17l2" }, { "symbol": "RAB3A", "ensemblId": "ENSG00000105649", "biotype": "protein_coding", "start": 18196752, "end": 18204055, "strand": "-", "slug": "rab3a" }, { "symbol": "PDE4C", "ensemblId": "ENSG00000285188", "biotype": "protein_coding", "start": 18207961, "end": 18255419, "strand": "-" }, { "symbol": "PDE4C", "ensemblId": "ENSG00000105650", "biotype": "protein_coding", "start": 18207965, "end": 18248200, "strand": "-", "slug": "pde4c" }, { "symbol": "CIST1", "ensemblId": "ENSG00000284797", "biotype": "protein_coding", "start": 18249950, "end": 18255400, "strand": "-", "slug": "cist1" }, { "symbol": "IQCN", "ensemblId": "ENSG00000130518", "biotype": "protein_coding", "start": 18257098, "end": 18274500, "strand": "-", "slug": "iqcn" }, { "symbol": "JUND", "ensemblId": "ENSG00000130522", "biotype": "protein_coding", "start": 18279694, "end": 18281622, "strand": "-", "slug": "jund" }, { "symbol": "LSM4", "ensemblId": "ENSG00000130520", "biotype": "protein_coding", "start": 18306231, "end": 18323112, "strand": "-", "slug": "lsm4" } ], "truncated": false }, "reports": [ { "slug": "severe-combined-immunodeficiency", "name": "Svår kombinerad immunbrist", "diseases": [ { "mondoId": "MONDO:0015974", "name": "Svår kombinerad immunbrist", "genes": 31, "inheritance": "autosomal-recessive", "description": "Svår kombinerad immunbrist (SCID) omfattar en grupp sällsynta, monogena primära immunbristsjukdomar som kännetecknas av brist på fungerande perifera T-lymfocyter. Det leder till allvarliga luftvägsinfektioner med tidig debut och tillväxtsvikt. Sjukdomarna klassificeras efter immunologisk fenotyp i SCID med avsaknad av T-celler men närvaro av B-celler (T-B+ SCID) eller SCID med avsaknad av båda (T-B- SCID). Båda grupperna omfattar flera former, med eller utan naturliga dödarceller (NK-celler).", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/severe-combined-immunodeficiency" }, { "slug": "immunodeficiency-disease", "name": "Andra medfödda immunbristsjukdomar", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Immunbristsjukdom", "genes": 170, "inheritance": null, "description": "Sjukdom där det finns en brist eller defekt i immunförsvarets mekanismer, antingen cellulära eller humorala.", "management": "HSCT vid SCID och allvarliga PID; immunglobulinersättning (IVIG/SCIG) vid antikroppsbrist; leniolisib (Joenja, FDA 2023) vid APDS; genterapi vid ADA-SCID; abatacept vid CTLA4- och LRBA-brist; profylaktiska antibiotika; G-CSF vid CGD", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "rectovaginal-fistula", "name": "Abnormal connection between rectum and vagina", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/rectovaginal-fistula" }, { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-b-cell-physiology", "name": "Abnormality of B cell physiology", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-b-cell-physiology" }, { "slug": "absent-natural-killer-cells", "name": "Absent natural killer cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-natural-killer-cells" }, { "slug": "absent-peripheral-lymph-nodes-in-presence-of-infection", "name": "Absent peripheral lymph nodes in presence of infection", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-peripheral-lymph-nodes-in-presence-of-infection" }, { "slug": "acute-otitis-media", "name": "Acute middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-otitis-media" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "recurrent-oral-thrush", "name": "Chronic oral thrush", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-oral-thrush" }, { "slug": "cutaneous-anergy", "name": "Cutaneous anergy", "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/cutaneous-anergy" }, { "slug": "decreased-anti-cd3-28-induced-t-cell-proliferation", "name": "Decreased anti-CD3/28-induced T-cell proliferation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-anti-cd3-28-induced-t-cell-proliferation" }, { "slug": "decreased-total-lymphocyte-count", "name": "Decreased blood lymphocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration" }, { "slug": "decreased-circulating-igg-concentration", "name": "Decreased circulating IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration" }, { "slug": "decreased-circulating-igm-concentration", "name": "Decreased circulating IgM concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration" }, { "slug": "decreased-mitogen-induced-t-cell-proliferation", "name": "Decreased mitogen-induced T-cell proliferation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-mitogen-induced-t-cell-proliferation" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "failure-to-thrive-in-infancy", "name": "Faltering weight in infancy", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy" }, { "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation", "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation" }, { "slug": "abnormal-t-cell-physiology", "name": "Impaired T cell function", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-t-cell-physiology" }, { "slug": "intestinal-obstruction", "name": "Intestinal obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intestinal-obstruction" }, { "slug": "decreased-total-b-cell-count", "name": "Low B cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-total-b-cell-count" }, { "slug": "decreased-total-t-cell-count", "name": "Low T cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-t-cell-count" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "panhypogammaglobulinemia", "name": "Panhypogammaglobulinemia", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/panhypogammaglobulinemia" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "pustule", "name": "Pimple", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pustule" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "recurrent-lower-respiratory-tract-infections", "name": "Recurrent chest infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections" }, { "slug": "recurrent-upper-respiratory-tract-infections", "name": "Recurrent colds", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections" }, { "slug": "recurrent-infection-of-the-gastrointestinal-tract", "name": "Recurrent infection of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-infection-of-the-gastrointestinal-tract" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-opportunistic-infections", "name": "Recurrent opportunistic infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-opportunistic-infections" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "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-viral-infections", "name": "Recurrent viral infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-viral-infections" }, { "slug": "severe-combined-immunodeficiency", "name": "Severe combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency" }, { "slug": "severe-t-cell-immunodeficiency", "name": "Severe T-cell immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/severe-t-cell-immunodeficiency" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/skin-rash" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 2, "url": "https://dantelabs.com/sv/genes/ada" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/ak2" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/sv/genes/bcl11b" }, { "slug": "card11", "symbol": "CARD11", "name": "caspase recruitment domain family member 11", "shared": 2, "url": "https://dantelabs.com/sv/genes/card11" }, { "slug": "carmil2", "symbol": "CARMIL2", "name": "capping protein regulator and myosin 1 linker 2", "shared": 2, "url": "https://dantelabs.com/sv/genes/carmil2" }, { "slug": "cd247", "symbol": "CD247", "name": "CD247 molecule", "shared": 2, "url": "https://dantelabs.com/sv/genes/cd247" }, { "slug": "cd3d", "symbol": "CD3D", "name": "CD3 delta subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/sv/genes/cd3d" }, { "slug": "cd3e", "symbol": "CD3E", "name": "CD3 epsilon subunit of T-cell receptor complex", "shared": 2, "url": "https://dantelabs.com/sv/genes/cd3e" }, { "slug": "cd70", "symbol": "CD70", "name": "CD70 molecule", "shared": 2, "url": "https://dantelabs.com/sv/genes/cd70" }, { "slug": "ciita", "symbol": "CIITA", "name": "class II major histocompatibility complex transactivator", "shared": 2, "url": "https://dantelabs.com/sv/genes/ciita" }, { "slug": 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