{
  "url": "https://dantelabs.com/ro/genes/st14",
  "gene": {
    "slug": "st14",
    "symbol": "ST14",
    "name": "ST14 transmembrane serine protease matriptase",
    "hgnc": "HGNC:11344",
    "summary": null,
    "location": "11q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "SNC19",
      "HAI",
      "MT-SP1",
      "TMPRSS14",
      "CAP3"
    ],
    "previousSymbols": [
      "PRSS14"
    ],
    "ensemblId": "ENSG00000149418",
    "entrezId": 6768,
    "omim": [
      "606797"
    ],
    "uniprot": [
      "Q9Y5Y6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 130159782,
      "end": 130210362,
      "strand": "+",
      "ensemblTranscript": "ENST00000278742.6",
      "refseqTranscript": "NM_021978.4",
      "ensemblProtein": "ENSP00000278742.5",
      "refseqProtein": "NP_068813.1",
      "exons": [
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        {
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          "end": 130210362
        }
      ],
      "cds": {
        "start": 130159980,
        "end": 130209823
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 130029457,
      "end": 130080271,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 129685072,
      "end": 130685071,
      "genes": [
        {
          "symbol": "TMEM45B",
          "ensemblId": "ENSG00000151715",
          "biotype": "protein_coding",
          "start": 129815786,
          "end": 129862079,
          "strand": "+",
          "slug": "tmem45b"
        },
        {
          "symbol": "NFRKB",
          "ensemblId": "ENSG00000170322",
          "biotype": "protein_coding",
          "start": 129863087,
          "end": 129895590,
          "strand": "-",
          "slug": "nfrkb"
        },
        {
          "symbol": "PRDM10",
          "ensemblId": "ENSG00000170325",
          "biotype": "protein_coding",
          "start": 129899706,
          "end": 130002860,
          "strand": "-",
          "slug": "prdm10"
        },
        {
          "symbol": "APLP2",
          "ensemblId": "ENSG00000084234",
          "biotype": "protein_coding",
          "start": 130068147,
          "end": 130144811,
          "strand": "+",
          "slug": "aplp2"
        },
        {
          "symbol": "ZBTB44",
          "ensemblId": "ENSG00000196323",
          "biotype": "protein_coding",
          "start": 130226677,
          "end": 130314917,
          "strand": "-",
          "slug": "zbtb44"
        },
        {
          "symbol": "ADAMTS8",
          "ensemblId": "ENSG00000134917",
          "biotype": "protein_coding",
          "start": 130404923,
          "end": 130428732,
          "strand": "-",
          "slug": "adamts8"
        },
        {
          "symbol": "ADAMTS15",
          "ensemblId": "ENSG00000166106",
          "biotype": "protein_coding",
          "start": 130448635,
          "end": 130476645,
          "strand": "+",
          "slug": "adamts15"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-ichthyoses",
        "name": "Ihtioze ereditare",
        "diseases": [
          {
            "mondoId": "MONDO:0017265",
            "name": "Ihtioza congenitală autozomal recesivă",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Un grup de ihtioze recesive, inclusiv ihtioza arlechin și ihtioza lamelară, care se manifestă de obicei la naștere, adesea cu o membrană de colodiu.",
            "management": "Diagnosticul precoce ghidează îngrijirea neonatală, schemele de emoliente și keratolitice și măsurile de precauție față de intoleranța la căldură.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/inherited-ichthyoses"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "brittle-hair",
        "name": "Brittle hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brittle-hair"
      },
      {
        "slug": "conical-primary-incisor",
        "name": "Cone shaped front baby tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conical-primary-incisor"
      },
      {
        "slug": "congenital-ichthyosiform-erythroderma",
        "name": "Congenital ichthyosiform erythroderma",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-ichthyosiform-erythroderma"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "curly-eyelashes",
        "name": "Curly eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/curly-eyelashes"
      },
      {
        "slug": "curly-hair",
        "name": "Curly hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/curly-hair"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "pili-torti",
        "name": "Flattened and twisted hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pili-torti"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "sparse-body-hair",
        "name": "Sparse body hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-body-hair"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sparse-hair"
      }
    ],
    "related": [
      {
        "slug": "abca12",
        "symbol": "ABCA12",
        "name": "ATP binding cassette subfamily A member 12",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abca12"
      },
      {
        "slug": "alox12b",
        "symbol": "ALOX12B",
        "name": "arachidonate 12-lipoxygenase, 12R type",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/alox12b"
      },
      {
        "slug": "aloxe3",
        "symbol": "ALOXE3",
        "name": "arachidonate epidermal lipoxygenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aloxe3"
      },
      {
        "slug": "cers3",
        "symbol": "CERS3",
        "name": "ceramide synthase 3",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cers3"
      },
      {
        "slug": "csta",
        "symbol": "CSTA",
        "name": "cystatin A",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/csta"
      },
      {
        "slug": "cyp4f22",
        "symbol": "CYP4F22",
        "name": "cytochrome P450 family 4 subfamily F member 22",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/cyp4f22"
      },
      {
        "slug": "krt2",
        "symbol": "KRT2",
        "name": "keratin 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/krt2"
      },
      {
        "slug": "lipn",
        "symbol": "LIPN",
        "name": "lipase family member N",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/lipn"
      },
      {
        "slug": "nipal4",
        "symbol": "NIPAL4",
        "name": "NIPA like domain containing 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/nipal4"
      },
      {
        "slug": "pnpla1",
        "symbol": "PNPLA1",
        "name": "patatin like domain 1, omega-hydroxyceramide transacylase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/pnpla1"
      },
      {
        "slug": "sdr9c7",
        "symbol": "SDR9C7",
        "name": "short chain dehydrogenase/reductase family 9C member 7",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/sdr9c7"
      },
      {
        "slug": "serpinb8",
        "symbol": "SERPINB8",
        "name": "serpin family B member 8",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/serpinb8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}