{ "url": "https://dantelabs.com/ko/genes/il17ra", "gene": { "slug": "il17ra", "symbol": "IL17RA", "name": "interleukin 17 receptor A", "hgnc": "HGNC:5985", "summary": null, "location": "22q11.1", "locusType": "gene with protein product", "aliases": [ "hIL-17R", "IL-17RA", "CDw217", "CD217" ], "previousSymbols": [ "IL17R" ], "ensemblId": "ENSG00000177663", "entrezId": 23765, "omim": [ "605461" ], "uniprot": [ "Q96F46" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 17085000, "end": 17115693, "strand": "+", "ensemblTranscript": "ENST00000319363.11", "refseqTranscript": "NM_014339.7", "ensemblProtein": "ENSP00000320936.6", "refseqProtein": "NP_055154.3", "exons": [ { "start": 17085000, "end": 17085229 }, { "start": 17097062, "end": 17097086 }, { "start": 17097797, "end": 17097943 }, { "start": 17098775, "end": 17098887 }, { "start": 17100355, "end": 17100481 }, { "start": 17101996, "end": 17102043 }, { "start": 17102139, "end": 17102302 }, { "start": 17103494, "end": 17103577 }, { "start": 17104726, "end": 17104810 }, { "start": 17105591, "end": 17105602 }, { "start": 17105853, "end": 17105954 }, { "start": 17107727, "end": 17107768 }, { "start": 17108307, "end": 17115693 } ], "cds": { "start": 17085092, "end": 17109820 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "22", "start": 17565844, "end": 17596583, "strand": "+" }, "neighbourhood": { "release": "116", "start": 16600347, "end": 17600346, "genes": [ { "symbol": "XKR3", "ensemblId": "ENSG00000172967", "biotype": "protein_coding", "start": 16783412, "end": 16851222, "strand": "-", "slug": "xkr3" }, { "symbol": "GAB4", "ensemblId": "ENSG00000215568", "biotype": "protein_coding", "start": 16961936, "end": 17008222, "strand": "-", "slug": "gab4" }, { "symbol": "TMEM121B", "ensemblId": "ENSG00000183307", "biotype": "protein_coding", "start": 17116297, "end": 17121367, "strand": "-", "slug": "tmem121b" }, { "symbol": "HDHD5", "ensemblId": "ENSG00000069998", "biotype": "protein_coding", "start": 17132107, "end": 17165287, "strand": "-", "slug": "hdhd5" }, { "symbol": "ADA2", "ensemblId": "ENSG00000093072", "biotype": "protein_coding", "start": 17178790, "end": 17258235, "strand": "-", "slug": "ada2" }, { "symbol": "CECR2", "ensemblId": "ENSG00000099954", "biotype": "protein_coding", "start": 17359949, "end": 17558151, "strand": "+", "slug": "cecr2" }, { "symbol": "SLC25A18", "ensemblId": "ENSG00000182902", "biotype": "protein_coding", "start": 17562670, "end": 17591927, "strand": "+", "slug": "slc25a18" }, { "symbol": "ATP6V1E1", "ensemblId": "ENSG00000131100", "biotype": "protein_coding", "start": 17592136, "end": 17630958, "strand": "-", "slug": "atp6v1e1" } ], "truncated": false }, "reports": [ { "slug": "chronic-mucocutaneous-candidiasis", "name": "만성 점막피부 칸디다증", "diseases": [ { "mondoId": "MONDO:0015279", "name": "만성 점막피부 칸디다증", "genes": 4, "inheritance": null, "description": "STAT1, IL17RA, IL17RC, IL17F, TRAF3IP2 등의 유전자 변화로 인해 피부, 손발톱, 점막에 Candida 감염이 지속되거나 반복되는 질환입니다.", "management": "원인을 알면 장기적인 항진균 치료 방향을 정하는 데 도움이 됩니다. STAT1 기능 획득(gain-of-function) 변이의 경우에는 자가면역 및 동맥류 여부를 추적 관찰하고, 표적 JAK 억제제 치료를 고려할 수 있습니다.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/chronic-mucocutaneous-candidiasis" }, { "slug": "immunodeficiency-disease", "name": "기타 선천성 면역 결핍 질환", "diseases": [ { "mondoId": "MONDO:0003778", "name": "선천성 면역 결핍증", "genes": 114, "inheritance": null, "description": "단일 유전자의 변화로 생기는 유전성 면역계 질환으로, 감염에 맞서는 능력이나 염증 조절 기능에 영향을 줍니다.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "면역결핍 질환", "genes": 170, "inheritance": null, "description": "세포성 또는 체액성 면역 기전에 결핍이나 결함이 있는 질환입니다.", "management": "중증복합면역결핍(SCID) 및 중증 원발성 면역결핍에는 조혈모세포이식(HSCT)을, 항체 결핍에는 면역글로불린 보충요법(IVIG/SCIG)을 시행합니다. APDS에는 2023년 FDA 승인된 레니올리십(Joenja)을, ADA-SCID에는 유전자 치료를, CTLA4/LRBA 결핍에는 아바타셉트를 사용합니다. 예방적 항생제 투여와 CGD에 대한 G-CSF 치료도 함께 시행됩니다.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-endocardium-morphology", "name": "Abnormal endocardium morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-endocardium-morphology" }, { "slug": "abnormal-fingernail-morphology", "name": "Abnormal fingernails", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology" }, { "slug": "abnormal-lip-morphology", "name": "Abnormal lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-lip-morphology" }, { "slug": "abnormal-dental-enamel-morphology", "name": "Abnormal tooth enamel", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology" }, { "slug": "abnormal-vagina-morphology", "name": "Abnormal vagina morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vagina-morphology" }, { "slug": "abnormality-of-temperature-regulation", "name": "Abnormality of temperature regulation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-temperature-regulation" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormality-of-the-immune-system", "name": "Abnormality of the immune system", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-immune-system" }, { "slug": "abnormality-of-the-mouth", "name": "Abnormality of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-mouth" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormality-of-the-skin", "name": "Abnormality of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-skin" }, { "slug": "abnormal-toenail-morphology", "name": "Abnormality of the toenail", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-toenail-morphology" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "broad-nail", "name": "Broad nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-nail" }, { "slug": "chronic-furunculosis", "name": "Chronic furunculosis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-furunculosis" }, { "slug": "recurrent-oral-thrush", "name": "Chronic oral thrush", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-oral-thrush" }, { "slug": "cough", "name": "Cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cough" }, { "slug": "hemoptysis", "name": "Coughing up blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemoptysis" }, { "slug": "dyspareunia", "name": "Dyspareunia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyspareunia" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "folliculitis", "name": "Folliculitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/folliculitis" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "cheilitis", "name": "Inflammation of the lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cheilitis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "skin-ulcer", "name": "Open skin sore", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-ulcer" }, { "slug": "papule", "name": "Papule", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/papule" }, { "slug": "pustule", "name": "Pimple", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pustule" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "pustular-rash", "name": "Pustular rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pustular-rash" }, { "slug": "recurrent-bronchitis", "name": "Recurrent bronchitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-bronchitis" }, { "slug": "recurrent-cutaneous-fungal-infections", "name": "Recurrent cutaneous fungal infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-cutaneous-fungal-infections" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "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-mucocutaneous-candidiasis", "name": "Recurrent mucocutaneous candidiasis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "recurrent-sinusitis", "name": "Recurrent sinus disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-sinusitis" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "recurrent-staphylococcus-aureus-infection", "name": "Recurrent Staphylococcus aureus infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "cutaneous-abscess", "name": "Skin abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutaneous-abscess" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-rash" } ], "related": [ { "slug": "stat1", "symbol": "STAT1", "name": "signal transducer and activator of transcription 1", "shared": 3, "url": "https://dantelabs.com/ko/genes/stat1" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/ko/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/ko/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/ko/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/ko/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/ko/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/ko/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/ko/genes/c1qa" }, { "slug": "c1qb", "symbol": "C1QB", "name": "complement C1q B chain", "shared": 2, "url": "https://dantelabs.com/ko/genes/c1qb" }, { "slug": "c1qc", "symbol": "C1QC", "name": "complement C1q C chain", "shared": 2, "url": "https://dantelabs.com/ko/genes/c1qc" }, { "slug": "c1s", "symbol": "C1S", "name": "complement C1s", "shared": 2, "url": "https://dantelabs.com/ko/genes/c1s" }, { "slug": "c2", "symbol": "C2", "name": "complement C2", "shared": 2, "url": "https://dantelabs.com/ko/genes/c2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }