{
  "url": "https://dantelabs.com/nl/genes/pik3c2a",
  "gene": {
    "slug": "pik3c2a",
    "symbol": "PIK3C2A",
    "name": "phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha",
    "hgnc": "HGNC:8971",
    "summary": null,
    "location": "11p15.1",
    "locusType": "gene with protein product",
    "aliases": [
      "PI3K-C2alpha"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000011405",
    "entrezId": 5286,
    "omim": [
      "603601"
    ],
    "uniprot": [
      "O00443"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 17086575,
      "end": 17207986,
      "strand": "-",
      "ensemblTranscript": "ENST00000691414.1",
      "refseqTranscript": "NM_002645.4",
      "ensemblProtein": "ENSP00000509400.1",
      "refseqProtein": "NP_002636.2",
      "exons": [
        {
          "start": 17086575,
          "end": 17089920
        },
        {
          "start": 17091334,
          "end": 17091459
        },
        {
          "start": 17091547,
          "end": 17091656
        },
        {
          "start": 17091996,
          "end": 17092068
        },
        {
          "start": 17092159,
          "end": 17092276
        },
        {
          "start": 17094261,
          "end": 17094385
        },
        {
          "start": 17097057,
          "end": 17097264
        },
        {
          "start": 17099860,
          "end": 17099969
        },
        {
          "start": 17101278,
          "end": 17101434
        },
        {
          "start": 17102662,
          "end": 17102831
        },
        {
          "start": 17105169,
          "end": 17105305
        },
        {
          "start": 17110432,
          "end": 17110561
        },
        {
          "start": 17112574,
          "end": 17112666
        },
        {
          "start": 17114361,
          "end": 17114465
        },
        {
          "start": 17117491,
          "end": 17117671
        },
        {
          "start": 17118645,
          "end": 17118739
        },
        {
          "start": 17119220,
          "end": 17119313
        },
        {
          "start": 17119786,
          "end": 17119974
        },
        {
          "start": 17122188,
          "end": 17122333
        },
        {
          "start": 17122702,
          "end": 17122813
        },
        {
          "start": 17129300,
          "end": 17129467
        },
        {
          "start": 17131916,
          "end": 17132038
        },
        {
          "start": 17134819,
          "end": 17135029
        },
        {
          "start": 17135111,
          "end": 17135159
        },
        {
          "start": 17136482,
          "end": 17136625
        },
        {
          "start": 17145668,
          "end": 17145731
        },
        {
          "start": 17145863,
          "end": 17145942
        },
        {
          "start": 17147517,
          "end": 17147628
        },
        {
          "start": 17148667,
          "end": 17148787
        },
        {
          "start": 17150498,
          "end": 17150655
        },
        {
          "start": 17155526,
          "end": 17155629
        },
        {
          "start": 17168677,
          "end": 17169806
        },
        {
          "start": 17207848,
          "end": 17207986
        }
      ],
      "cds": {
        "start": 17089738,
        "end": 17169741
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 17099277,
      "end": 17229530,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 16647281,
      "end": 17647280,
      "genes": [
        {
          "symbol": "SOX6",
          "ensemblId": "ENSG00000110693",
          "biotype": "protein_coding",
          "start": 15966449,
          "end": 16739591,
          "strand": "-",
          "slug": "sox6"
        },
        {
          "symbol": "C11orf58",
          "ensemblId": "ENSG00000110696",
          "biotype": "protein_coding",
          "start": 16613132,
          "end": 16758340,
          "strand": "+",
          "slug": "c11orf58"
        },
        {
          "symbol": "PLEKHA7",
          "ensemblId": "ENSG00000166689",
          "biotype": "protein_coding",
          "start": 16777297,
          "end": 17014589,
          "strand": "-",
          "slug": "plekha7"
        },
        {
          "symbol": "RPS13",
          "ensemblId": "ENSG00000110700",
          "biotype": "protein_coding",
          "start": 17066750,
          "end": 17077729,
          "strand": "-",
          "slug": "rps13"
        },
        {
          "symbol": "NUCB2",
          "ensemblId": "ENSG00000070081",
          "biotype": "protein_coding",
          "start": 17208072,
          "end": 17349980,
          "strand": "+",
          "slug": "nucb2"
        },
        {
          "symbol": "NCR3LG1",
          "ensemblId": "ENSG00000188211",
          "biotype": "protein_coding",
          "start": 17351677,
          "end": 17377341,
          "strand": "+",
          "slug": "ncr3lg1"
        },
        {
          "symbol": "KCNJ11",
          "ensemblId": "ENSG00000187486",
          "biotype": "protein_coding",
          "start": 17364082,
          "end": 17389364,
          "strand": "-",
          "slug": "kcnj11"
        },
        {
          "symbol": "ABCC8",
          "ensemblId": "ENSG00000006071",
          "biotype": "protein_coding",
          "start": 17392498,
          "end": 17476894,
          "strand": "-",
          "slug": "abcc8"
        },
        {
          "symbol": "USH1C",
          "ensemblId": "ENSG00000006611",
          "biotype": "protein_coding",
          "start": 17493895,
          "end": 17544435,
          "strand": "-",
          "slug": "ush1c"
        },
        {
          "symbol": "OTOG",
          "ensemblId": "ENSG00000188162",
          "biotype": "protein_coding",
          "start": 17547259,
          "end": 17647150,
          "strand": "+",
          "slug": "otog"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-thalamus-morphology",
        "name": "Abnormal thalamus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-thalamus-morphology"
      },
      {
        "slug": "abnormality-of-mucopolysaccharide-metabolism",
        "name": "Abnormality of mucopolysaccharide metabolism",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-mucopolysaccharide-metabolism"
      },
      {
        "slug": "abnormality-of-the-frontal-hairline",
        "name": "Abnormality of the frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-frontal-hairline"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "broad-columella",
        "name": "Broad columella",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-columella"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "hypercalciuria",
        "name": "Elevated urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypercalciuria"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "oligodontia",
        "name": "Failure of development of more than six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligodontia"
      },
      {
        "slug": "focal-white-matter-lesions",
        "name": "Focal white matter lesions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-white-matter-lesions"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "mutism",
        "name": "Inability to speak",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mutism"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "lacunar-stroke",
        "name": "Lacunar stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lacunar-stroke"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "metaphyseal-dysplasia",
        "name": "Metaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/metaphyseal-dysplasia"
      },
      {
        "slug": "mucopolysacchariduria",
        "name": "Mucopolysacchariduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mucopolysacchariduria"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "short-5th-finger",
        "name": "Short 5th finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-5th-finger"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "thoracic-hypoplasia",
        "name": "Small chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-hypoplasia"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "hypoplasia-of-the-capital-femoral-epiphysis",
        "name": "Small innermost thighbone end part",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-capital-femoral-epiphysis"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "thick-nasal-alae",
        "name": "Thick nasal alae",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thick-nasal-alae"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "thoracic-kyphosis",
        "name": "Thoracic kyphosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thoracic-kyphosis"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}