{
  "url": "https://dantelabs.com/et/genes/bpnt2",
  "gene": {
    "slug": "bpnt2",
    "symbol": "BPNT2",
    "name": "3'(2'), 5'-bisphosphate nucleotidase 2",
    "hgnc": "HGNC:26019",
    "summary": null,
    "location": "8q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ20421",
      "IMPA3",
      "gPAPP"
    ],
    "previousSymbols": [
      "IMPAD1"
    ],
    "ensemblId": "ENSG00000104331",
    "entrezId": 54928,
    "omim": [
      "614010"
    ],
    "uniprot": [
      "Q9NX62"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 56957931,
      "end": 56993867,
      "strand": "-",
      "ensemblTranscript": "ENST00000262644.9",
      "refseqTranscript": "NM_017813.5",
      "ensemblProtein": "ENSP00000262644.4",
      "refseqProtein": "NP_060283.3",
      "exons": [
        {
          "start": 56957931,
          "end": 56964064
        },
        {
          "start": 56966191,
          "end": 56966352
        },
        {
          "start": 56978050,
          "end": 56978145
        },
        {
          "start": 56980035,
          "end": 56980197
        },
        {
          "start": 56993199,
          "end": 56993867
        }
      ],
      "cds": {
        "start": 56963793,
        "end": 56993585
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 57870492,
      "end": 57906403,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 56475899,
      "end": 57475898,
      "genes": [],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hip-dysplasia",
        "name": "Abnormal formation of the hip",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dysplasia"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "capitate-hamate-fusion",
        "name": "Capitate-hamate fusion",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/capitate-hamate-fusion"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "coronal-craniosynostosis",
        "name": "Coronal craniosynostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coronal-craniosynostosis"
      },
      {
        "slug": "patellar-dislocation",
        "name": "Dislocated kneecap",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/patellar-dislocation"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "hitchhiker-thumb",
        "name": "Hitchhiker thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hitchhiker-thumb"
      },
      {
        "slug": "hyperphalangy-of-the-4th-finger",
        "name": "Hyperphalangy of the 4th finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hyperphalangy-of-the-4th-finger"
      },
      {
        "slug": "intervertebral-space-narrowing",
        "name": "Intervertebral space narrowing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intervertebral-space-narrowing"
      },
      {
        "slug": "irregular-epiphyses-of-the-metacarpals",
        "name": "Irregular end part of the long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-epiphyses-of-the-metacarpals"
      },
      {
        "slug": "knee-dislocation",
        "name": "Knee dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/knee-dislocation"
      },
      {
        "slug": "genu-valgum",
        "name": "Knock knees",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/genu-valgum"
      },
      {
        "slug": "limb-undergrowth",
        "name": "Limb undergrowth",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-undergrowth"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "narrow-mouth",
        "name": "Narrow mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/narrow-mouth"
      },
      {
        "slug": "radial-head-subluxation",
        "name": "Radial head subluxation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/radial-head-subluxation"
      },
      {
        "slug": "recurrent-patellar-dislocation",
        "name": "Recurrent patellar dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-patellar-dislocation"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-toe",
        "name": "Short toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-toe"
      },
      {
        "slug": "short-metacarpal",
        "name": "Shortened long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-metacarpal"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}