{ "url": "https://dantelabs.com/tr/genes/ifngr2", "gene": { "slug": "ifngr2", "symbol": "IFNGR2", "name": "interferon gamma receptor 2", "hgnc": "HGNC:5440", "summary": null, "location": "21q22.11", "locusType": "gene with protein product", "aliases": [ "AF-1" ], "previousSymbols": [ "IFNGT1" ], "ensemblId": "ENSG00000159128", "entrezId": 3460, "omim": [ "147569" ], "uniprot": [ "P38484" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "21", "start": 33403413, "end": 33437516, "strand": "+", "ensemblTranscript": "ENST00000290219.11", "refseqTranscript": "NM_005534.4", "ensemblProtein": "ENSP00000290219.5", "refseqProtein": "NP_005525.2", "exons": [ { "start": 33403413, "end": 33403616 }, { "start": 33414888, "end": 33415020 }, { "start": 33421480, "end": 33421685 }, { "start": 33426884, "end": 33427032 }, { "start": 33432177, "end": 33432336 }, { "start": 33432714, "end": 33432871 }, { "start": 33436828, "end": 33437516 } ], "cds": { "start": 33403544, "end": 33436962 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "21", "start": 34775202, "end": 34851655, "strand": "+" }, "neighbourhood": { "release": "116", "start": 32920465, "end": 33920464, "genes": [ { "symbol": "OLIG2", "ensemblId": "ENSG00000205927", "biotype": "protein_coding", "start": 33025327, "end": 33029209, "strand": "+", "slug": "olig2" }, { "symbol": "OLIG1", "ensemblId": "ENSG00000184221", "biotype": "protein_coding", "start": 33070141, "end": 33072413, "strand": "+", "slug": "olig1" }, { "symbol": "IFNAR2", "ensemblId": "ENSG00000159110", "biotype": "protein_coding", "start": 33205282, "end": 33265675, "strand": "+", "slug": "ifnar2" }, { "symbol": "IFNAR2-IL10RB", "ensemblId": "ENSG00000249624", "biotype": "protein_coding", "start": 33229892, "end": 33297160, "strand": "+" }, { "symbol": "IL10RB", "ensemblId": "ENSG00000243646", "biotype": "protein_coding", "start": 33265958, "end": 33311420, "strand": "+", "slug": "il10rb" }, { "symbol": "IFNAR1", "ensemblId": "ENSG00000142166", "biotype": "protein_coding", "start": 33324387, "end": 33359864, "strand": "+", "slug": "ifnar1" }, { "symbol": "TMEM50B", "ensemblId": "ENSG00000142188", "biotype": "protein_coding", "start": 33432190, "end": 33480004, "strand": "-", "slug": "tmem50b" }, { "symbol": "DNAJC28", "ensemblId": "ENSG00000177692", "biotype": "protein_coding", "start": 33485615, "end": 33491753, "strand": "-", "slug": "dnajc28" }, { "symbol": "GART", "ensemblId": "ENSG00000159131", "biotype": "protein_coding", "start": 33498517, "end": 33543524, "strand": "-", "slug": "gart" }, { "symbol": "SON", "ensemblId": "ENSG00000159140", "biotype": "protein_coding", "start": 33542214, "end": 33577481, "strand": "+", "slug": "son" }, { "symbol": "DONSON", "ensemblId": "ENSG00000159147", "biotype": "protein_coding", "start": 33559542, "end": 33589015, "strand": "-", "slug": "donson" }, { "symbol": "", "ensemblId": "ENSG00000249209", "biotype": "protein_coding", "start": 33584687, "end": 33931607, "strand": "-" }, { "symbol": "CRYZL1", "ensemblId": "ENSG00000205758", "biotype": "protein_coding", "start": 33589341, "end": 33643926, "strand": "-", "slug": "cryzl1" }, { "symbol": "ITSN1", "ensemblId": "ENSG00000205726", "biotype": "protein_coding", "start": 33642400, "end": 33899861, "strand": "+", "slug": "itsn1" }, { "symbol": "ATP5PO", "ensemblId": "ENSG00000241837", "biotype": "protein_coding", "start": 33901027, "end": 33915853, "strand": "-", "slug": "atp5po" } ], "truncated": false }, "reports": [ { "slug": "mendelian-susceptibility-to-mycobacterial-disease", "name": "Mendelyen Mikobakteri Duyarlılığı (MSMD)", "diseases": [ { "mondoId": "MONDO:0013953", "name": "Tam IFN-gama reseptör 2 eksikliği", "genes": 1, "inheritance": "autosomal-recessive", "description": "Her iki IFNGR2 kopyasındaki değişikliklerden kaynaklanan, ağır ve erken başlangıçlı mikobakteri enfeksiyonları.", "management": "Interferon-gama tedavisi işe yaramadığı için genellikle kök hücre nakli gerekir.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/mendelian-susceptibility-to-mycobacterial-disease" }, { "slug": "immunodeficiency-disease", "name": "Diğer Doğuştan İmmün Yetmezlikler", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Bağışıklık yetmezliğinin kalıtsal formu", "genes": 114, "inheritance": null, "description": "Tek genlerdeki değişikliklerden kaynaklanan, vücudun enfeksiyonlarla savaşma veya iltihaplanmayı düzenleme becerisini etkileyen kalıtsal bağışıklık sistemi bozuklukları.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "İmmün Yetmezlik Hastalığı", "genes": 170, "inheritance": null, "description": "Hücresel veya humoral bağışıklık mekanizmalarında eksiklik ya da bozukluk bulunan hastalık.", "management": "Ağır kombine immün yetmezlik (SCID) ve ağır primer immün yetmezlikler için HSCT; antikor eksikliklerinde immünoglobulin replasmanı (IVIG/SCIG); APDS için lenyolisib (Joenja, FDA 2023); ADA-SCID için gen tedavisi; CTLA4/LRBA eksikliği için abatasept; profilaktik antibiyotikler; KGH için G-CSF", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "recurrent-mycobacterial-infections", "name": "Recurrent mycobacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections" } ], "related": [ { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/tr/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/tr/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/tr/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/tr/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/tr/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/tr/genes/c1qa" }, { "slug": "c1qb", "symbol": "C1QB", "name": "complement C1q B chain", "shared": 2, "url": "https://dantelabs.com/tr/genes/c1qb" }, { "slug": "c1qc", "symbol": "C1QC", "name": "complement C1q C chain", "shared": 2, "url": "https://dantelabs.com/tr/genes/c1qc" }, { "slug": "c1s", "symbol": "C1S", "name": "complement C1s", "shared": 2, "url": "https://dantelabs.com/tr/genes/c1s" }, { "slug": "c2", "symbol": "C2", "name": "complement C2", "shared": 2, "url": "https://dantelabs.com/tr/genes/c2" }, { "slug": "c3", "symbol": "C3", "name": "complement C3", "shared": 2, "url": "https://dantelabs.com/tr/genes/c3" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }