{
  "url": "https://dantelabs.com/nl/genes/kcnj6",
  "gene": {
    "slug": "kcnj6",
    "symbol": "KCNJ6",
    "name": "potassium inwardly rectifying channel subfamily J member 6",
    "hgnc": "HGNC:6267",
    "summary": null,
    "location": "21q22.13",
    "locusType": "gene with protein product",
    "aliases": [
      "Kir3.2",
      "GIRK2",
      "KATP2",
      "BIR1",
      "hiGIRK2"
    ],
    "previousSymbols": [
      "KCNJ7"
    ],
    "ensemblId": "ENSG00000157542",
    "entrezId": 3763,
    "omim": [
      "600877"
    ],
    "uniprot": [
      "P48051"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 37607373,
      "end": 37916457,
      "strand": "-",
      "ensemblTranscript": "ENST00000609713.2",
      "refseqTranscript": "NM_002240.5",
      "ensemblProtein": "ENSP00000477437.1",
      "refseqProtein": "NP_002231.1",
      "exons": [
        {
          "start": 37607373,
          "end": 37625484
        },
        {
          "start": 37714211,
          "end": 37715131
        },
        {
          "start": 37840658,
          "end": 37840709
        },
        {
          "start": 37915884,
          "end": 37916457
        }
      ],
      "cds": {
        "start": 37625159,
        "end": 37840682
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 38979678,
      "end": 39288749,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 37261915,
      "end": 38261914,
      "genes": [
        {
          "symbol": "VPS26C",
          "ensemblId": "ENSG00000157538",
          "biotype": "protein_coding",
          "start": 37221749,
          "end": 37268104,
          "strand": "-",
          "slug": "vps26c"
        },
        {
          "symbol": "DYRK1A",
          "ensemblId": "ENSG00000157540",
          "biotype": "protein_coding",
          "start": 37365573,
          "end": 37526358,
          "strand": "+",
          "slug": "dyrk1a"
        },
        {
          "symbol": "KCNJ15",
          "ensemblId": "ENSG00000157551",
          "biotype": "protein_coding",
          "start": 38155549,
          "end": 38307357,
          "strand": "+",
          "slug": "kcnj15"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-eye-movement",
        "name": "Abnormality of eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-eye-movement"
      },
      {
        "slug": "abnormal-forehead-morphology",
        "name": "Abnormality of the forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-forehead-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absence-of-subcutaneous-fat",
        "name": "Absent fat below the skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absence-of-subcutaneous-fat"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "narrow-naris",
        "name": "Collapsed nostrils",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-naris"
      },
      {
        "slug": "congenital-generalized-lipodystrophy",
        "name": "Congenital generalized lipodystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-generalized-lipodystrophy"
      },
      {
        "slug": "loss-of-facial-adipose-tissue",
        "name": "Decreased amount of facial fat",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-facial-adipose-tissue"
      },
      {
        "slug": "shallow-orbits",
        "name": "Decreased depth of eye sockets",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/shallow-orbits"
      },
      {
        "slug": "decreased-serum-leptin",
        "name": "Decreased serum leptin",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-serum-leptin"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "slug": "dimple-chin",
        "name": "Dimple chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dimple-chin"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "mask-like-facies",
        "name": "Expressionless face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mask-like-facies"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "febrile-seizure-within-the-age-range-of-3-months-to-6-years",
        "name": "Febrile seizure (within the age range of 3 months to 6 years)",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "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-lipodystrophy",
        "name": "Generalized lipodystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-lipodystrophy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "abnormally-large-globe",
        "name": "Increased size of eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormally-large-globe"
      },
      {
        "slug": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "lack-of-facial-subcutaneous-fat",
        "name": "Lack of facial fat below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lack-of-facial-subcutaneous-fat"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "narrow-nasal-bridge",
        "name": "Narrow nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-nasal-bridge"
      },
      {
        "slug": "open-mouth",
        "name": "Open mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/open-mouth"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "progeroid-facial-appearance",
        "name": "Premature aged appearance",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progeroid-facial-appearance"
      },
      {
        "slug": "premature-skin-wrinkling",
        "name": "Premature skin wrinkling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/premature-skin-wrinkling"
      },
      {
        "slug": "prominent-nasal-tip",
        "name": "Prominent nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-nasal-tip"
      },
      {
        "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": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "spastic-tetraparesis",
        "name": "Spastic tetraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraparesis"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tented-upper-lip-vermilion",
        "name": "Tented mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion"
      },
      {
        "slug": "underdeveloped-nasal-alae",
        "name": "Underdeveloped tissue around nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae"
      },
      {
        "slug": "upper-airway-obstruction",
        "name": "Upper airway obstruction",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-airway-obstruction"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}