{
  "url": "https://dantelabs.com/de/genes/padi3",
  "gene": {
    "slug": "padi3",
    "symbol": "PADI3",
    "name": "peptidyl arginine deiminase 3",
    "hgnc": "HGNC:18337",
    "summary": null,
    "location": "1p36.13",
    "locusType": "gene with protein product",
    "aliases": [
      "PDI3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000142619",
    "entrezId": 51702,
    "omim": [
      "606755"
    ],
    "uniprot": [
      "Q9ULW8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 17249098,
      "end": 17284233,
      "strand": "+",
      "ensemblTranscript": "ENST00000375460.3",
      "refseqTranscript": "NM_016233.2",
      "ensemblProtein": "ENSP00000364609.3",
      "refseqProtein": "NP_057317.2",
      "exons": [
        {
          "start": 17249098,
          "end": 17249229
        },
        {
          "start": 17259578,
          "end": 17259758
        },
        {
          "start": 17262133,
          "end": 17262205
        },
        {
          "start": 17265659,
          "end": 17265720
        },
        {
          "start": 17266719,
          "end": 17266836
        },
        {
          "start": 17267837,
          "end": 17267962
        },
        {
          "start": 17270233,
          "end": 17270411
        },
        {
          "start": 17270879,
          "end": 17270982
        },
        {
          "start": 17271067,
          "end": 17271178
        },
        {
          "start": 17273340,
          "end": 17273447
        },
        {
          "start": 17274635,
          "end": 17274786
        },
        {
          "start": 17276519,
          "end": 17276663
        },
        {
          "start": 17276774,
          "end": 17276876
        },
        {
          "start": 17280350,
          "end": 17280429
        },
        {
          "start": 17280671,
          "end": 17280796
        },
        {
          "start": 17282846,
          "end": 17284233
        }
      ],
      "cds": {
        "start": 17249138,
        "end": 17283079
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 17575593,
      "end": 17610728,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 16766666,
      "end": 17766665,
      "genes": [
        {
          "symbol": "CROCC",
          "ensemblId": "ENSG00000058453",
          "biotype": "protein_coding",
          "start": 16740273,
          "end": 16972964,
          "strand": "+",
          "slug": "crocc"
        },
        {
          "symbol": "MFAP2",
          "ensemblId": "ENSG00000117122",
          "biotype": "protein_coding",
          "start": 16972933,
          "end": 16981616,
          "strand": "-",
          "slug": "mfap2"
        },
        {
          "symbol": "ATP13A2",
          "ensemblId": "ENSG00000159363",
          "biotype": "protein_coding",
          "start": 16985958,
          "end": 17011986,
          "strand": "-",
          "slug": "atp13a2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288636",
          "biotype": "protein_coding",
          "start": 17005068,
          "end": 17011757,
          "strand": "-"
        },
        {
          "symbol": "SDHB",
          "ensemblId": "ENSG00000117118",
          "biotype": "protein_coding",
          "start": 17018664,
          "end": 17054210,
          "strand": "-",
          "slug": "sdhb"
        },
        {
          "symbol": "PADI2",
          "ensemblId": "ENSG00000117115",
          "biotype": "protein_coding",
          "start": 17066761,
          "end": 17119459,
          "strand": "-",
          "slug": "padi2"
        },
        {
          "symbol": "PADI1",
          "ensemblId": "ENSG00000142623",
          "biotype": "protein_coding",
          "start": 17205120,
          "end": 17246007,
          "strand": "+",
          "slug": "padi1"
        },
        {
          "symbol": "PADI4",
          "ensemblId": "ENSG00000159339",
          "biotype": "protein_coding",
          "start": 17308195,
          "end": 17364004,
          "strand": "+",
          "slug": "padi4"
        },
        {
          "symbol": "PADI6",
          "ensemblId": "ENSG00000276747",
          "biotype": "protein_coding",
          "start": 17372196,
          "end": 17401699,
          "strand": "+",
          "slug": "padi6"
        },
        {
          "symbol": "RCC2",
          "ensemblId": "ENSG00000179051",
          "biotype": "protein_coding",
          "start": 17406755,
          "end": 17439992,
          "strand": "-",
          "slug": "rcc2"
        },
        {
          "symbol": "ARHGEF10L",
          "ensemblId": "ENSG00000074964",
          "biotype": "protein_coding",
          "start": 17539368,
          "end": 17697876,
          "strand": "+",
          "slug": "arhgef10l"
        },
        {
          "symbol": "ACTL8",
          "ensemblId": "ENSG00000117148",
          "biotype": "protein_coding",
          "start": 17755310,
          "end": 17827063,
          "strand": "+",
          "slug": "actl8"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-hypotrichosis-and-hair-shaft-disorders",
        "name": "Hereditäre Hypotrichose, Wollhaar und Monilethrix",
        "diseases": [
          {
            "mondoId": "MONDO:0020736",
            "name": "Uncombable-Hair-Syndrom",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Trockenes, krauses, silbrig glänzendes Haar, das vom Kopf absteht und sich nicht glatt kämmen lässt.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/hereditary-hypotrichosis-and-hair-shaft-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "woolly-hair",
        "name": "Afro-textured hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/woolly-hair"
      },
      {
        "slug": "coarse-hair",
        "name": "Coarse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coarse-hair"
      },
      {
        "slug": "dry-hair",
        "name": "Dry hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/dry-hair"
      },
      {
        "slug": "patchy-alopecia",
        "name": "Patchy baldness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patchy-alopecia"
      },
      {
        "slug": "pili-canaliculi",
        "name": "Pili canaliculi",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pili-canaliculi"
      },
      {
        "slug": "trichodysplasia",
        "name": "Trichodysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/trichodysplasia"
      },
      {
        "slug": "uncombable-hair",
        "name": "Uncombable hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/uncombable-hair"
      },
      {
        "slug": "white-hair",
        "name": "White hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/white-hair"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}