{
  "url": "https://dantelabs.com/da/genes/p3h2",
  "gene": {
    "slug": "p3h2",
    "symbol": "P3H2",
    "name": "prolyl 3-hydroxylase 2",
    "hgnc": "HGNC:19317",
    "summary": null,
    "location": "3q28",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10718",
      "MLAT4"
    ],
    "previousSymbols": [
      "LEPREL1"
    ],
    "ensemblId": "ENSG00000090530",
    "entrezId": 55214,
    "omim": [
      "610341"
    ],
    "uniprot": [
      "Q8IVL5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 189956728,
      "end": 190120897,
      "strand": "-",
      "ensemblTranscript": "ENST00000319332.10",
      "refseqTranscript": "NM_018192.4",
      "ensemblProtein": "ENSP00000316881.5",
      "refseqProtein": "NP_060662.2",
      "exons": [
        {
          "start": 189956728,
          "end": 189958004
        },
        {
          "start": 189963958,
          "end": 189964098
        },
        {
          "start": 189970816,
          "end": 189970891
        },
        {
          "start": 189971890,
          "end": 189972007
        },
        {
          "start": 189972874,
          "end": 189973024
        },
        {
          "start": 189973909,
          "end": 189974004
        },
        {
          "start": 189974558,
          "end": 189974685
        },
        {
          "start": 189983046,
          "end": 189983140
        },
        {
          "start": 189984550,
          "end": 189984590
        },
        {
          "start": 189986788,
          "end": 189986877
        },
        {
          "start": 189987527,
          "end": 189987669
        },
        {
          "start": 189988907,
          "end": 189989038
        },
        {
          "start": 189994094,
          "end": 189994283
        },
        {
          "start": 189995290,
          "end": 189995442
        },
        {
          "start": 190120252,
          "end": 190120897
        }
      ],
      "cds": {
        "start": 189957912,
        "end": 190120731
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 189674517,
      "end": 189840226,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 189538813,
      "end": 190538812,
      "genes": [
        {
          "symbol": "TP63",
          "ensemblId": "ENSG00000073282",
          "biotype": "protein_coding",
          "start": 189631252,
          "end": 189897276,
          "strand": "+",
          "slug": "tp63"
        },
        {
          "symbol": "CLDN1",
          "ensemblId": "ENSG00000163347",
          "biotype": "protein_coding",
          "start": 190305706,
          "end": 190322977,
          "strand": "-",
          "slug": "cldn1"
        },
        {
          "symbol": "CLDN16",
          "ensemblId": "ENSG00000113946",
          "biotype": "protein_coding",
          "start": 190322522,
          "end": 190412460,
          "strand": "+",
          "slug": "cldn16"
        },
        {
          "symbol": "TMEM207",
          "ensemblId": "ENSG00000198398",
          "biotype": "protein_coding",
          "start": 190428655,
          "end": 190449901,
          "strand": "-",
          "slug": "tmem207"
        },
        {
          "symbol": "IL1RAP",
          "ensemblId": "ENSG00000196083",
          "biotype": "protein_coding",
          "start": 190487420,
          "end": 190659750,
          "strand": "+",
          "slug": "il1rap"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopati",
        "diseases": [
          {
            "mondoId": "MONDO:0013670",
            "name": "Høj myopi med katarakt og vitreoretinal degeneration",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "En recessiv tilstand forårsaget af ændringer i begge kopier af P3H2, med svær nærsynethed, tidlig katarakt og vitreoretinal degeneration.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "vitreous-floaters",
        "name": "Eye floaters",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vitreous-floaters"
      },
      {
        "slug": "lattice-retinal-degeneration",
        "name": "Lattice retinal degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lattice-retinal-degeneration"
      },
      {
        "slug": "mildly-reduced-visual-acuity",
        "name": "Mildly reduced visual acuity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mildly-reduced-visual-acuity"
      },
      {
        "slug": "lens-subluxation",
        "name": "Partially dislocated lens",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lens-subluxation"
      },
      {
        "slug": "peripheral-vitreoretinal-degeneration",
        "name": "Peripheral vitreoretinal degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-vitreoretinal-degeneration"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-myopia"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}