{
  "url": "https://dantelabs.com/lt/genes/mfap5",
  "gene": {
    "slug": "mfap5",
    "symbol": "MFAP5",
    "name": "microfibril associated protein 5",
    "hgnc": "HGNC:29673",
    "summary": null,
    "location": "12p13.31",
    "locusType": "gene with protein product",
    "aliases": [
      "MAGP2",
      "MP25"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000197614",
    "entrezId": 8076,
    "omim": [
      "601103"
    ],
    "uniprot": [
      "Q13361"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 8645943,
      "end": 8662826,
      "strand": "-",
      "ensemblTranscript": "ENST00000359478.7",
      "refseqTranscript": "NM_003480.4",
      "ensemblProtein": "ENSP00000352455.2",
      "refseqProtein": "NP_003471.1",
      "exons": [
        {
          "start": 8645943,
          "end": 8648203
        },
        {
          "start": 8649501,
          "end": 8649574
        },
        {
          "start": 8650502,
          "end": 8650589
        },
        {
          "start": 8651662,
          "end": 8651691
        },
        {
          "start": 8654437,
          "end": 8654481
        },
        {
          "start": 8655415,
          "end": 8655447
        },
        {
          "start": 8655786,
          "end": 8655830
        },
        {
          "start": 8660863,
          "end": 8660898
        },
        {
          "start": 8662047,
          "end": 8662106
        },
        {
          "start": 8662627,
          "end": 8662826
        }
      ],
      "cds": {
        "start": 8648091,
        "end": 8662104
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 8789942,
      "end": 8815484,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 8154385,
      "end": 9154384,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000284393",
          "biotype": "protein_coding",
          "start": 8138140,
          "end": 8175320,
          "strand": "+"
        },
        {
          "symbol": "ZNF705A",
          "ensemblId": "ENSG00000196946",
          "biotype": "protein_coding",
          "start": 8157015,
          "end": 8188537,
          "strand": "+",
          "slug": "znf705a"
        },
        {
          "symbol": "FAM90A1",
          "ensemblId": "ENSG00000171847",
          "biotype": "protein_coding",
          "start": 8221260,
          "end": 8227621,
          "strand": "-",
          "slug": "fam90a1"
        },
        {
          "symbol": "CLEC6A",
          "ensemblId": "ENSG00000205846",
          "biotype": "protein_coding",
          "start": 8455950,
          "end": 8479779,
          "strand": "+",
          "slug": "clec6a"
        },
        {
          "symbol": "CLEC4D",
          "ensemblId": "ENSG00000166527",
          "biotype": "protein_coding",
          "start": 8509475,
          "end": 8522641,
          "strand": "+",
          "slug": "clec4d"
        },
        {
          "symbol": "CLEC4E",
          "ensemblId": "ENSG00000166523",
          "biotype": "protein_coding",
          "start": 8533273,
          "end": 8541079,
          "strand": "-",
          "slug": "clec4e"
        },
        {
          "symbol": "AICDA",
          "ensemblId": "ENSG00000111732",
          "biotype": "protein_coding",
          "start": 8602155,
          "end": 8613242,
          "strand": "-",
          "slug": "aicda"
        },
        {
          "symbol": "RIMKLB",
          "ensemblId": "ENSG00000166532",
          "biotype": "protein_coding",
          "start": 8681483,
          "end": 8783095,
          "strand": "+",
          "slug": "rimklb"
        },
        {
          "symbol": "A2ML1",
          "ensemblId": "ENSG00000166535",
          "biotype": "protein_coding",
          "start": 8822466,
          "end": 8887001,
          "strand": "+",
          "slug": "a2ml1"
        },
        {
          "symbol": "PHC1",
          "ensemblId": "ENSG00000111752",
          "biotype": "protein_coding",
          "start": 8913824,
          "end": 8944860,
          "strand": "+",
          "slug": "phc1"
        },
        {
          "symbol": "M6PR",
          "ensemblId": "ENSG00000003056",
          "biotype": "protein_coding",
          "start": 8940358,
          "end": 8951856,
          "strand": "-",
          "slug": "m6pr"
        },
        {
          "symbol": "KLRG1",
          "ensemblId": "ENSG00000139187",
          "biotype": "protein_coding",
          "start": 8950044,
          "end": 9165627,
          "strand": "+",
          "slug": "klrg1"
        },
        {
          "symbol": "A2M",
          "ensemblId": "ENSG00000175899",
          "biotype": "protein_coding",
          "start": 9067664,
          "end": 9116229,
          "strand": "-",
          "slug": "a2m"
        },
        {
          "symbol": "PZP",
          "ensemblId": "ENSG00000126838",
          "biotype": "protein_coding",
          "start": 9148840,
          "end": 9208410,
          "strand": "-",
          "slug": "pzp"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "aortic-aneurysm",
        "name": "Aortos aneurizma",
        "diseases": [
          {
            "mondoId": "MONDO:0019625",
            "name": "Familiarna torakalinės aortos aneurizma ir disekacija",
            "genes": 12,
            "inheritance": "autosomal-dominant",
            "description": "Paveldimas torakalinės aortos išsiplėtimas ir plyšimas, sukeliamas genų, tokių kaip ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 ir THSD4, pokyčių.",
            "management": "Žinojimas padeda reguliariai atlikti aortos tyrimus, kontroliuoti kraujospūdį, laiku atlikti profilaktinę operaciją ir patikrinti giminaičius.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/aortic-aneurysm"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-aortic-aneurysm",
        "name": "Abdominal aortic aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm"
      },
      {
        "slug": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "abnormality-of-connective-tissue",
        "name": "Abnormality of connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "aortic-tortuosity",
        "name": "Aortic tortuosity",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-tortuosity"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "ascending-aortic-dissection",
        "name": "Ascending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascending-aortic-dissection"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "descending-aortic-dissection",
        "name": "Descending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/descending-aortic-dissection"
      },
      {
        "slug": "descending-thoracic-aorta-aneurysm",
        "name": "Descending thoracic aorta aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/descending-thoracic-aorta-aneurysm"
      },
      {
        "slug": "disproportionate-tall-stature",
        "name": "Disproportionate tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/disproportionate-tall-stature"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dural-ectasia",
        "name": "Dural ectasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dural-ectasia"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "mucoid-extracellular-matrix-accumulation",
        "name": "Mucoid extracellular matrix accumulation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mucoid-extracellular-matrix-accumulation"
      },
      {
        "slug": "paroxysmal-dyspnea",
        "name": "Paroxysmal dyspnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-dyspnea"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "peripheral-arterial-stenosis",
        "name": "Peripheral arterial stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "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": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "thoracic-aortic-aneurysm",
        "name": "Thoracic aortic aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-aortic-aneurysm"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acta2",
        "symbol": "ACTA2",
        "name": "actin alpha 2, smooth muscle",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/acta2"
      },
      {
        "slug": "fbn1",
        "symbol": "FBN1",
        "name": "fibrillin 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/fbn1"
      },
      {
        "slug": "foxe3",
        "symbol": "FOXE3",
        "name": "forkhead box E3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/foxe3"
      },
      {
        "slug": "lox",
        "symbol": "LOX",
        "name": "lysyl oxidase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/lox"
      },
      {
        "slug": "myh11",
        "symbol": "MYH11",
        "name": "myosin heavy chain 11",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/myh11"
      },
      {
        "slug": "mylk",
        "symbol": "MYLK",
        "name": "myosin light chain kinase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/mylk"
      },
      {
        "slug": "prkg1",
        "symbol": "PRKG1",
        "name": "protein kinase cGMP-dependent 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/prkg1"
      },
      {
        "slug": "tgfb2",
        "symbol": "TGFB2",
        "name": "transforming growth factor beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/tgfb2"
      },
      {
        "slug": "tgfbr1",
        "symbol": "TGFBR1",
        "name": "transforming growth factor beta receptor 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/tgfbr1"
      },
      {
        "slug": "tgfbr2",
        "symbol": "TGFBR2",
        "name": "transforming growth factor beta receptor 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/tgfbr2"
      },
      {
        "slug": "thsd4",
        "symbol": "THSD4",
        "name": "thrombospondin type 1 domain containing 4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/thsd4"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}