{ "url": "https://dantelabs.com/de/genes/cavin1", "gene": { "slug": "cavin1", "symbol": "CAVIN1", "name": "caveolae associated protein 1", "hgnc": "HGNC:9688", "summary": null, "location": "17q21.2", "locusType": "gene with protein product", "aliases": [ "cavin-1", "CGL4" ], "previousSymbols": [ "PTRF" ], "ensemblId": "ENSG00000177469", "entrezId": 284119, "omim": [ "603198" ], "uniprot": [ "Q6NZI2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 42402449, "end": 42423256, "strand": "-", "ensemblTranscript": "ENST00000357037.6", "refseqTranscript": "NM_012232.6", "ensemblProtein": "ENSP00000349541.4", "refseqProtein": "NP_036364.2", "exons": [ { "start": 42402449, "end": 42405388 }, { "start": 42422627, "end": 42423256 } ], "cds": { "start": 42404687, "end": 42423097 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 40554470, "end": 40575535, "strand": "-" }, "neighbourhood": { "release": "116", "start": 41912853, "end": 42912852, "genes": [ { "symbol": "ACLY", "ensemblId": "ENSG00000131473", "biotype": "protein_coding", "start": 41866916, "end": 41930551, "strand": "-", "slug": "acly" }, { "symbol": "ODAD4", "ensemblId": "ENSG00000204815", "biotype": "protein_coding", "start": 41930599, "end": 41966503, "strand": "+", "slug": "odad4" }, { "symbol": "CNP", "ensemblId": "ENSG00000173786", "biotype": "protein_coding", "start": 41966729, "end": 41977740, "strand": "+", "slug": "cnp" }, { "symbol": "DNAJC7", "ensemblId": "ENSG00000168259", "biotype": "protein_coding", "start": 41974005, "end": 42021376, "strand": "-", "slug": "dnajc7" }, { "symbol": "NKIRAS2", "ensemblId": "ENSG00000168256", "biotype": "protein_coding", "start": 42011382, "end": 42025644, "strand": "+", "slug": "nkiras2" }, { "symbol": "ZNF385C", "ensemblId": "ENSG00000187595", "biotype": "protein_coding", "start": 42025576, "end": 42098479, "strand": "-", "slug": "znf385c" }, { "symbol": "C17orf113", "ensemblId": "ENSG00000267221", "biotype": "protein_coding", "start": 42038232, "end": 42050601, "strand": "-", "slug": "c17orf113" }, { "symbol": "DHX58", "ensemblId": "ENSG00000108771", "biotype": "protein_coding", "start": 42101404, "end": 42112735, "strand": "-", "slug": "dhx58" }, { "symbol": "KAT2A", "ensemblId": "ENSG00000108773", "biotype": "protein_coding", "start": 42113109, "end": 42121382, "strand": "-", "slug": "kat2a" }, { "symbol": "", "ensemblId": "ENSG00000267261", "biotype": "protein_coding", "start": 42119674, "end": 42154916, "strand": "-" }, { "symbol": "HSPB9", "ensemblId": "ENSG00000260325", "biotype": "protein_coding", "start": 42122804, "end": 42123352, "strand": "+", "slug": "hspb9" }, { "symbol": "RAB5C", "ensemblId": "ENSG00000108774", "biotype": "protein_coding", "start": 42124976, "end": 42155044, "strand": "-", "slug": "rab5c" }, { "symbol": "KCNH4", "ensemblId": "ENSG00000089558", "biotype": "protein_coding", "start": 42156891, "end": 42181146, "strand": "-", "slug": "kcnh4" }, { "symbol": "HCRT", "ensemblId": "ENSG00000161610", "biotype": "protein_coding", "start": 42184060, "end": 42185452, "strand": "-", "slug": "hcrt" }, { "symbol": "GHDC", "ensemblId": "ENSG00000167925", "biotype": "protein_coding", "start": 42188799, "end": 42194513, "strand": "-", "slug": "ghdc" }, { "symbol": "STAT5B", "ensemblId": "ENSG00000173757", "biotype": "protein_coding", "start": 42199176, "end": 42288633, "strand": "-", "slug": "stat5b" }, { "symbol": "STAT5A", "ensemblId": "ENSG00000126561", "biotype": "protein_coding", "start": 42287547, "end": 42311943, "strand": "+", "slug": "stat5a" }, { "symbol": "STAT3", "ensemblId": "ENSG00000168610", "biotype": "protein_coding", "start": 42313322, "end": 42388574, "strand": "-", "slug": "stat3" }, { "symbol": "ATP6V0A1", "ensemblId": "ENSG00000033627", "biotype": "protein_coding", "start": 42458823, "end": 42522582, "strand": "+", "slug": "atp6v0a1" }, { "symbol": "NAGLU", "ensemblId": "ENSG00000108784", "biotype": "protein_coding", "start": 42536216, "end": 42544449, "strand": "+", "slug": "naglu" }, { "symbol": "HSD17B1", "ensemblId": "ENSG00000108786", "biotype": "protein_coding", "start": 42552920, "end": 42555217, "strand": "+", "slug": "hsd17b1" }, { "symbol": "COASY", "ensemblId": "ENSG00000068120", "biotype": "protein_coding", "start": 42561467, "end": 42566277, "strand": "+", "slug": "coasy" }, { "symbol": "MLX", "ensemblId": "ENSG00000108788", "biotype": "protein_coding", "start": 42567067, "end": 42573239, "strand": "+", "slug": "mlx" }, { "symbol": "PSMC3IP", "ensemblId": "ENSG00000131470", "biotype": "protein_coding", "start": 42572310, "end": 42577831, "strand": "-", "slug": "psmc3ip" }, { "symbol": "RETREG3", "ensemblId": "ENSG00000141699", "biotype": "protein_coding", "start": 42579508, "end": 42610623, "strand": "-", "slug": "retreg3" }, { "symbol": "TUBG1", "ensemblId": "ENSG00000131462", "biotype": "protein_coding", "start": 42609411, "end": 42615253, "strand": "+", "slug": "tubg1" }, { "symbol": "TUBG2", "ensemblId": "ENSG00000037042", "biotype": "protein_coding", "start": 42659223, "end": 42667007, "strand": "+", "slug": "tubg2" }, { "symbol": "PLEKHH3", "ensemblId": "ENSG00000068137", "biotype": "protein_coding", "start": 42667914, "end": 42677064, "strand": "-", "slug": "plekhh3" }, { "symbol": "CCR10", "ensemblId": "ENSG00000184451", "biotype": "protein_coding", "start": 42678889, "end": 42683917, "strand": "-", "slug": "ccr10" }, { "symbol": "CNTNAP1", "ensemblId": "ENSG00000108797", "biotype": "protein_coding", "start": 42682368, "end": 42699993, "strand": "+", "slug": "cntnap1" }, { "symbol": "EZH1", "ensemblId": "ENSG00000108799", "biotype": "protein_coding", "start": 42700270, "end": 42745069, "strand": "-", "slug": "ezh1" }, { "symbol": "RAMP2", "ensemblId": "ENSG00000131477", "biotype": "protein_coding", "start": 42758447, "end": 42763537, "strand": "+", "slug": "ramp2" }, { "symbol": "VPS25", "ensemblId": "ENSG00000131475", "biotype": "protein_coding", "start": 42773439, "end": 42779600, "strand": "+", "slug": "vps25" }, { "symbol": "WNK4", "ensemblId": "ENSG00000126562", "biotype": "protein_coding", "start": 42780593, "end": 42797066, "strand": "+", "slug": "wnk4" }, { "symbol": "COA3", "ensemblId": "ENSG00000183978", "biotype": "protein_coding", "start": 42793154, "end": 42798719, "strand": "-", "slug": "coa3" }, { "symbol": "CNTD1", "ensemblId": "ENSG00000176563", "biotype": "protein_coding", "start": 42798800, "end": 42811587, "strand": "+", "slug": "cntd1" }, { "symbol": "BECN1", "ensemblId": "ENSG00000126581", "biotype": "protein_coding", "start": 42809108, "end": 42833350, "strand": "-", "slug": "becn1" }, { "symbol": "PSME3", "ensemblId": "ENSG00000131467", "biotype": "protein_coding", "start": 42824385, "end": 42843760, "strand": "+", "slug": "psme3" }, { "symbol": "AOC2", "ensemblId": "ENSG00000131480", "biotype": "protein_coding", "start": 42844574, "end": 42850707, "strand": "+", "slug": "aoc2" }, { "symbol": "AOC3", "ensemblId": "ENSG00000131471", "biotype": "protein_coding", "start": 42851130, "end": 42858130, "strand": "+", "slug": "aoc3" }, { "symbol": "G6PC1", "ensemblId": "ENSG00000131482", "biotype": "protein_coding", "start": 42900722, "end": 42923502, "strand": "+", "slug": "g6pc1" } ], "truncated": false }, "reports": [ { "slug": "lipodystrophy", "name": "Lipodystrophie", "diseases": [ { "mondoId": "MONDO:0006536", "name": "Kongenitale generalisierte Lipodystrophie", "genes": 4, "inheritance": "autosomal-recessive", "description": "Eine äußerst seltene, autosomal-rezessiv vererbte Erkrankung, die durch einen ausgeprägten Mangel an Unterhautfettgewebe gekennzeichnet ist.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/lipodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acral-overgrowth", "name": "Acral overgrowth", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acral-overgrowth" }, { "slug": "accelerated-skeletal-maturation", "name": "Advanced bone age", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "insulin-resistance", "name": "Body fails to respond to insulin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/insulin-resistance" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "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" ], "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "tachycardia", "name": "Elevated heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/tachycardia" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "ileus", "name": "Ileus", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/ileus" }, { "slug": "lipodystrophy", "name": "Inability to make and keep healthy fat tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lipodystrophy" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "skeletal-muscle-hypertrophy", "name": "Increased skeletal muscle cells", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-hypertrophy" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "muscle-mounding", "name": "Muscle mounding", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-mounding" }, { "slug": "muscle-stiffness", "name": "Muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-stiffness" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "muscular-dystrophy", "name": "Muscular dystrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscular-dystrophy" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "prolonged-qt-interval", "name": "Prolonged QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/prolonged-qt-interval" }, { "slug": "prominent-umbilicus", "name": "Prominent belly button", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-umbilicus" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "pyloric-stenosis", "name": "Pyloric stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/pyloric-stenosis" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "spinal-rigidity", "name": "Reduced spine movement", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/spinal-rigidity" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "bradycardia", "name": "Slow heartbeats", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/bradycardia" } ], "related": [ { "slug": "agpat2", "symbol": "AGPAT2", "name": "1-acylglycerol-3-phosphate O-acyltransferase 2", "shared": 1, "url": "https://dantelabs.com/de/genes/agpat2" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 1, "url": "https://dantelabs.com/de/genes/bscl2" }, { "slug": "cav1", "symbol": "CAV1", "name": "caveolin 1", "shared": 1, "url": "https://dantelabs.com/de/genes/cav1" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }