{ "url": "https://dantelabs.com/ko/genes/ap2s1", "gene": { "slug": "ap2s1", "symbol": "AP2S1", "name": "adaptor related protein complex 2 subunit sigma 1", "hgnc": "HGNC:565", "summary": null, "location": "19q13.32", "locusType": "gene with protein product", "aliases": [ "FBHOk", "FBH3" ], "previousSymbols": [ "CLAPS2", "HHC3" ], "ensemblId": "ENSG00000042753", "entrezId": 1175, "omim": [ "602242" ], "uniprot": [ "P53680" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 46838167, "end": 46850846, "strand": "-", "ensemblTranscript": "ENST00000263270.11", "refseqTranscript": "NM_004069.6", "ensemblProtein": "ENSP00000263270.6", "refseqProtein": "NP_004060.2", "exons": [ { "start": 46838167, "end": 46838548 }, { "start": 46838740, "end": 46838799 }, { "start": 46839465, "end": 46839578 }, { "start": 46845993, "end": 46846142 }, { "start": 46850764, "end": 46850846 } ], "cds": { "start": 46838447, "end": 46850766 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 47341393, "end": 47354249, "strand": "-" }, "neighbourhood": { "release": "116", "start": 46344507, "end": 47344506, "genes": [ { "symbol": "PPP5C", "ensemblId": "ENSG00000011485", "biotype": "protein_coding", "start": 46346994, "end": 46393000, "strand": "+", "slug": "ppp5c" }, { "symbol": "CCDC8", "ensemblId": "ENSG00000169515", "biotype": "protein_coding", "start": 46410329, "end": 46413564, "strand": "-", "slug": "ccdc8" }, { "symbol": "PNMA8C", "ensemblId": "ENSG00000277531", "biotype": "protein_coding", "start": 46424697, "end": 46428936, "strand": "-", "slug": "pnma8c" }, { "symbol": "PNMA8A", "ensemblId": "ENSG00000182013", "biotype": "protein_coding", "start": 46466491, "end": 46471572, "strand": "-", "slug": "pnma8a" }, { "symbol": "PNMA8B", "ensemblId": "ENSG00000204851", "biotype": "protein_coding", "start": 46486906, "end": 46495879, "strand": "-", "slug": "pnma8b" }, { "symbol": "CALM3", "ensemblId": "ENSG00000160014", "biotype": "protein_coding", "start": 46601074, "end": 46610795, "strand": "+", "slug": "calm3" }, { "symbol": "PTGIR", "ensemblId": "ENSG00000160013", "biotype": "protein_coding", "start": 46618550, "end": 46625534, "strand": "-", "slug": "ptgir" }, { "symbol": "GNG8", "ensemblId": "ENSG00000167414", "biotype": "protein_coding", "start": 46633947, "end": 46639623, "strand": "-", "slug": "gng8" }, { "symbol": "DACT3", "ensemblId": "ENSG00000197380", "biotype": "protein_coding", "start": 46646872, "end": 46661199, "strand": "-", "slug": "dact3" }, { "symbol": "PRKD2", "ensemblId": "ENSG00000105287", "biotype": "protein_coding", "start": 46673661, "end": 46717144, "strand": "-", "slug": "prkd2" }, { "symbol": "STRN4", "ensemblId": "ENSG00000090372", "biotype": "protein_coding", "start": 46719507, "end": 46746994, "strand": "-", "slug": "strn4" }, { "symbol": "FKRP", "ensemblId": "ENSG00000181027", "biotype": "protein_coding", "start": 46746046, "end": 46776988, "strand": "+", "slug": "fkrp" }, { "symbol": "SLC1A5", "ensemblId": "ENSG00000105281", "biotype": "protein_coding", "start": 46758394, "end": 46788617, "strand": "-", "slug": "slc1a5" }, { "symbol": "ARHGAP35", "ensemblId": "ENSG00000160007", "biotype": "protein_coding", "start": 46860433, "end": 47005077, "strand": "+", "slug": "arhgap35" }, { "symbol": "NPAS1", "ensemblId": "ENSG00000130751", "biotype": "protein_coding", "start": 47019474, "end": 47047242, "strand": "+", "slug": "npas1" }, { "symbol": "TMEM160", "ensemblId": "ENSG00000130748", "biotype": "protein_coding", "start": 47045909, "end": 47048650, "strand": "-", "slug": "tmem160" }, { "symbol": "ZC3H4", "ensemblId": "ENSG00000130749", "biotype": "protein_coding", "start": 47064187, "end": 47113776, "strand": "-", "slug": "zc3h4" }, { "symbol": "SAE1", "ensemblId": "ENSG00000142230", "biotype": "protein_coding", "start": 47113274, "end": 47210636, "strand": "+", "slug": "sae1" }, { "symbol": "BBC3", "ensemblId": "ENSG00000105327", "biotype": "protein_coding", "start": 47220822, "end": 47233019, "strand": "-", "slug": "bbc3" }, { "symbol": "CCDC9", "ensemblId": "ENSG00000105321", "biotype": "protein_coding", "start": 47255980, "end": 47274055, "strand": "+", "slug": "ccdc9" }, { "symbol": "INAFM1", "ensemblId": "ENSG00000257704", "biotype": "protein_coding", "start": 47274373, "end": 47277755, "strand": "+", "slug": "inafm1" }, { "symbol": "C5AR1", "ensemblId": "ENSG00000197405", "biotype": "protein_coding", "start": 47290023, "end": 47322075, "strand": "+", "slug": "c5ar1" }, { "symbol": "C5AR2", "ensemblId": "ENSG00000134830", "biotype": "protein_coding", "start": 47332148, "end": 47347329, "strand": "+", "slug": "c5ar2" } ], "truncated": false }, "reports": [ { "slug": "inherited-parathyroid-calcium-sensing-disorders", "name": "유전성 부갑상선 및 칼슘 감지 질환", "diseases": [ { "mondoId": "MONDO:0018458", "name": "가족성 저칼슘뇨성 고칼슘혈증", "genes": 3, "inheritance": "autosomal-dominant", "description": "칼슘 감지 기능 저하(CASR, GNA11, AP2S1)로 인해 발생하며, 평생 지속되는 경미한 혈중 칼슘 상승과 낮은 요중 칼슘이 특징입니다. 대개 해롭지 않습니다.", "management": "이 질환을 확인하면 치료되지 않는 부갑상선 수술을 불필요하게 받는 일을 피할 수 있습니다.", "evidence": { "gencc": [ "Ambry Genetics", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/inherited-parathyroid-calcium-sensing-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "bone-pain", "name": "Bone pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "url": "https://dantelabs.com/traits/bone-pain" }, { "slug": "chondrocalcinosis", "name": "Calcium deposits in joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/chondrocalcinosis" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hypercalcemia", "name": "High blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypercalcemia" }, { "slug": "hypermagnesemia", "name": "High blood magnesium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypermagnesemia" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "hypophosphatemia", "name": "Low blood phosphate level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypophosphatemia" }, { "slug": "hypocalciuria", "name": "Low urine calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypocalciuria" }, { "slug": "multiple-lipomas", "name": "Multiple fatty lumps", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "url": "https://dantelabs.com/traits/multiple-lipomas" }, { "slug": "multiple-small-medullary-renal-cysts", "name": "Multiple small medullary renal cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-small-medullary-renal-cysts" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "pancreatitis", "name": "Pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/pancreatitis" }, { "slug": "parathormone-independent-increased-renal-tubular-calcium-reabsorption", "name": "Parathormone-independent increased renal tubular calcium reabsorption", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/parathormone-independent-increased-renal-tubular-calcium-reabsorption" }, { "slug": "primary-hyperparathyroidism", "name": "Primary hyperparathyroidism", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/primary-hyperparathyroidism" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "osteomalacia", "name": "Softening of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteomalacia" }, { "slug": "peptic-ulcer", "name": "Sore in the lining of gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peptic-ulcer" } ], "related": [ { "slug": "casr", "symbol": "CASR", "name": "calcium sensing receptor", "shared": 1, "url": "https://dantelabs.com/ko/genes/casr" }, { "slug": "gna11", "symbol": "GNA11", "name": "G protein subunit alpha 11", "shared": 1, "url": "https://dantelabs.com/ko/genes/gna11" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }