{ "url": "https://dantelabs.com/ko/genes/nlrc4", "gene": { "slug": "nlrc4", "symbol": "NLRC4", "name": "NLR family CARD domain containing 4", "hgnc": "HGNC:16412", "summary": null, "location": "2p22.3", "locusType": "gene with protein product", "aliases": [ "CLAN1", "ipaf", "CLANA", "CLANB", "CLANC", "CLAND", "CLR2.1", "CLAN" ], "previousSymbols": [ "CARD12" ], "ensemblId": "ENSG00000091106", "entrezId": 58484, "omim": [ "606831" ], "uniprot": [ "Q9NPP4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 32224453, "end": 32264886, "strand": "-", "ensemblTranscript": "ENST00000402280.6", "refseqTranscript": "NM_001199138.2", "ensemblProtein": "ENSP00000385428.1", "refseqProtein": "NP_001186067.1", "exons": [ { "start": 32224453, "end": 32224765 }, { "start": 32235401, "end": 32235568 }, { "start": 32236247, "end": 32236339 }, { "start": 32238132, "end": 32238302 }, { "start": 32241033, "end": 32241125 }, { "start": 32249607, "end": 32251601 }, { "start": 32252419, "end": 32252679 }, { "start": 32256775, "end": 32256893 }, { "start": 32264738, "end": 32264886 } ], "cds": { "start": 32224473, "end": 32256775 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 32449522, "end": 32490923, "strand": "-" }, "neighbourhood": { "release": "116", "start": 31744670, "end": 32744669, "genes": [ { "symbol": "MEMO1", "ensemblId": "ENSG00000162959", "biotype": "protein_coding", "start": 31865060, "end": 32011230, "strand": "-", "slug": "memo1" }, { "symbol": "DPY30", "ensemblId": "ENSG00000162961", "biotype": "protein_coding", "start": 31867809, "end": 32039832, "strand": "-", "slug": "dpy30" }, { "symbol": "SPAST", "ensemblId": "ENSG00000021574", "biotype": "protein_coding", "start": 32063525, "end": 32157637, "strand": "+", "slug": "spast" }, { "symbol": "SLC30A6", "ensemblId": "ENSG00000152683", "biotype": "protein_coding", "start": 32165841, "end": 32224802, "strand": "+", "slug": "slc30a6" }, { "symbol": "YIPF4", "ensemblId": "ENSG00000119820", "biotype": "protein_coding", "start": 32277868, "end": 32320896, "strand": "+", "slug": "yipf4" }, { "symbol": "BIRC6", "ensemblId": "ENSG00000115760", "biotype": "protein_coding", "start": 32357019, "end": 32619582, "strand": "+", "slug": "birc6" }, { "symbol": "TTC27", "ensemblId": "ENSG00000018699", "biotype": "protein_coding", "start": 32628019, "end": 32821052, "strand": "+", "slug": "ttc27" } ], "truncated": false }, "reports": [ { "slug": "hereditary-periodic-fever-syndromes", "name": "유전성 주기열 증후군", "diseases": [ { "mondoId": "MONDO:0016168", "name": "냉동알갱이 관련 주기열 증후군(CAPS)", "genes": 4, "inheritance": "autosomal-dominant", "description": "주로 NLRP3의 변화로 발생하는 질환군으로, 추위에 의해 유발되는 발진과 발열에서부터 피부, 관절, 청력 및 뇌에 영향을 미치는 만성 염증까지 다양한 증상이 나타납니다.", "management": "인터루킨-1 차단 치료는 증상을 조절하고 청력 손실 및 아밀로이드증의 예방에 도움을 줍니다.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/hereditary-periodic-fever-syndromes" }, { "slug": "rare-monogenic-autoinflammatory-diseases", "name": "희귀 단일유전자 자가염증 질환", "diseases": [ { "mondoId": "MONDO:0014472", "name": "NLRC4 관련 자가염증 질환", "genes": 1, "inheritance": "autosomal-dominant", "description": "NLRC4 기능 획득(gain-of-function) 변이에 의해 발생하며, 반복적인 발열, 발진 및 영아기에 시작되는 심한 장염이 나타나고, 경우에 따라 대식세포 활성화가 동반됩니다.", "management": null, "evidence": { "gencc": [ "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/rare-monogenic-autoinflammatory-diseases" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-natural-killer-cell-physiology", "name": "Abnormal natural killer cell physiology", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-natural-killer-cell-physiology" }, { "slug": "diffuse-alveolar-hemorrhage", "name": "Diffuse alveolar hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diffuse-alveolar-hemorrhage" }, { "slug": "disseminated-intravascular-coagulation", "name": "Disseminated intravascular coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation" }, { "slug": "elevated-circulating-c-reactive-protein-concentration", "name": "Elevated circulating C-reactive protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration" }, { "slug": "increased-circulating-ferritin-concentration", "name": "Elevated serum ferritin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration" }, { "slug": "enterocolitis", "name": "Enterocolitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/enterocolitis" }, { "slug": "recurrent-fever", "name": "Episodic fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fever" }, { "slug": "episodic-vomiting", "name": "Episodic vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/episodic-vomiting" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fever" }, { "slug": "urticaria", "name": "Hives", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/urticaria" }, { "slug": "hypofibrinogenemia", "name": "Hypofibrinogenemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hypofibrinogenemia" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "reduced-total-natural-killer-cell-count", "name": "Reduced total natural killer cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count" }, { "slug": "secretory-diarrhea", "name": "Secretory diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/secretory-diarrhea" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skin-rash" }, { "slug": "villous-atrophy", "name": "Villous atrophy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/villous-atrophy" } ], "related": [ { "slug": "nlrp12", "symbol": "NLRP12", "name": "NLR family pyrin domain containing 12", "shared": 1, "url": "https://dantelabs.com/ko/genes/nlrp12" }, { "slug": "nlrp3", "symbol": "NLRP3", "name": "NLR family pyrin domain containing 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/nlrp3" }, { "slug": "plcg2", "symbol": "PLCG2", "name": "phospholipase C gamma 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/plcg2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }