{
  "url": "https://dantelabs.com/sv/genes/hs6st2",
  "gene": {
    "slug": "hs6st2",
    "symbol": "HS6ST2",
    "name": "heparan sulfate 6-O-sulfotransferase 2",
    "hgnc": "HGNC:19133",
    "summary": null,
    "location": "Xq26.2",
    "locusType": "gene with protein product",
    "aliases": [
      "HS6ST-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000171004",
    "entrezId": 90161,
    "omim": [
      "300545"
    ],
    "uniprot": [
      "Q96MM7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 132626015,
      "end": 132958629,
      "strand": "-",
      "ensemblTranscript": "ENST00000370833.7",
      "refseqTranscript": "NM_001394073.1",
      "ensemblProtein": "ENSP00000359870.3",
      "refseqProtein": "NP_001381002.1",
      "exons": [
        {
          "start": 132626015,
          "end": 132629093
        },
        {
          "start": 132669113,
          "end": 132669199
        },
        {
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        },
        {
          "start": 132956808,
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        },
        {
          "start": 132958175,
          "end": 132958629
        }
      ],
      "cds": {
        "start": 132628223,
        "end": 132958602
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 131760044,
      "end": 132095423,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 132292322,
      "end": 133292321,
      "genes": [
        {
          "symbol": "MBNL3",
          "ensemblId": "ENSG00000076770",
          "biotype": "protein_coding",
          "start": 132369320,
          "end": 132490155,
          "strand": "-",
          "slug": "mbnl3"
        },
        {
          "symbol": "USP26",
          "ensemblId": "ENSG00000134588",
          "biotype": "protein_coding",
          "start": 133023168,
          "end": 133097109,
          "strand": "-",
          "slug": "usp26"
        },
        {
          "symbol": "TFDP3",
          "ensemblId": "ENSG00000183434",
          "biotype": "protein_coding",
          "start": 133216662,
          "end": 133218354,
          "strand": "-",
          "slug": "tfdp3"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "downturned-corners-of-mouth",
        "name": "Downturned corners of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downturned-corners-of-mouth"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "elevated-lactate-pyruvate-ratio",
        "name": "Elevated lactate:pyruvate ratio",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-lactate-pyruvate-ratio"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/febrile-seizure-within-the-age-range-of-3-months-to-6-years"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "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": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "large-forehead",
        "name": "Large forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-forehead"
      },
      {
        "slug": "lateral-ventricle-dilatation",
        "name": "Lateral ventricle dilatation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}