{
  "url": "https://dantelabs.com/el/genes/serpinb8",
  "gene": {
    "slug": "serpinb8",
    "symbol": "SERPINB8",
    "name": "serpin family B member 8",
    "hgnc": "HGNC:8952",
    "summary": null,
    "location": "18q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "CAP2"
    ],
    "previousSymbols": [
      "PI8"
    ],
    "ensemblId": "ENSG00000166401",
    "entrezId": 5271,
    "omim": [
      "601697"
    ],
    "uniprot": [
      "P50452"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "18",
      "start": 63970081,
      "end": 63989374,
      "strand": "+",
      "ensemblTranscript": "ENST00000397985.7",
      "refseqTranscript": "NM_002640.4",
      "ensemblProtein": "ENSP00000381072.2",
      "refseqProtein": "NP_002631.3",
      "exons": [
        {
          "start": 63970081,
          "end": 63970170
        },
        {
          "start": 63978299,
          "end": 63978476
        },
        {
          "start": 63979801,
          "end": 63979938
        },
        {
          "start": 63981721,
          "end": 63981838
        },
        {
          "start": 63983579,
          "end": 63983721
        },
        {
          "start": 63985093,
          "end": 63985245
        },
        {
          "start": 63986874,
          "end": 63989374
        }
      ],
      "cds": {
        "start": 63978309,
        "end": 63987278
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "18",
      "start": 61637159,
      "end": 61672278,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 63479728,
      "end": 64479727,
      "genes": [
        {
          "symbol": "SERPINB5",
          "ensemblId": "ENSG00000206075",
          "biotype": "protein_coding",
          "start": 63476817,
          "end": 63505085,
          "strand": "+",
          "slug": "serpinb5"
        },
        {
          "symbol": "SERPINB12",
          "ensemblId": "ENSG00000166634",
          "biotype": "protein_coding",
          "start": 63542369,
          "end": 63569329,
          "strand": "+",
          "slug": "serpinb12"
        },
        {
          "symbol": "SERPINB13",
          "ensemblId": "ENSG00000197641",
          "biotype": "protein_coding",
          "start": 63586654,
          "end": 63604639,
          "strand": "+",
          "slug": "serpinb13"
        },
        {
          "symbol": "SERPINB4",
          "ensemblId": "ENSG00000206073",
          "biotype": "protein_coding",
          "start": 63637259,
          "end": 63644263,
          "strand": "-",
          "slug": "serpinb4"
        },
        {
          "symbol": "SERPINB11",
          "ensemblId": "ENSG00000206072",
          "biotype": "protein_coding",
          "start": 63647579,
          "end": 63726432,
          "strand": "+",
          "slug": "serpinb11"
        },
        {
          "symbol": "SERPINB3",
          "ensemblId": "ENSG00000057149",
          "biotype": "protein_coding",
          "start": 63652584,
          "end": 63661893,
          "strand": "-",
          "slug": "serpinb3"
        },
        {
          "symbol": "SERPINB7",
          "ensemblId": "ENSG00000166396",
          "biotype": "protein_coding",
          "start": 63752935,
          "end": 63805376,
          "strand": "+",
          "slug": "serpinb7"
        },
        {
          "symbol": "SERPINB2",
          "ensemblId": "ENSG00000197632",
          "biotype": "protein_coding",
          "start": 63871692,
          "end": 63903888,
          "strand": "+",
          "slug": "serpinb2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289724",
          "biotype": "protein_coding",
          "start": 63897174,
          "end": 63917490,
          "strand": "+"
        },
        {
          "symbol": "SERPINB10",
          "ensemblId": "ENSG00000242550",
          "biotype": "protein_coding",
          "start": 63907958,
          "end": 63936111,
          "strand": "+",
          "slug": "serpinb10"
        },
        {
          "symbol": "HMSD",
          "ensemblId": "ENSG00000221887",
          "biotype": "protein_coding",
          "start": 63949277,
          "end": 63981774,
          "strand": "+",
          "slug": "hmsd"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "inherited-ichthyoses",
        "name": "Κληρονομικές ιχθύαστες",
        "diseases": [
          {
            "mondoId": "MONDO:0019347",
            "name": "Σύνδρομο απολέπισης του δέρματος",
            "genes": 5,
            "inheritance": "autosomal-recessive",
            "description": "Ομάδα παθήσεων κατά τις οποίες η εξωτερική στιβάδα του δέρματος αποφλοιώνεται εύκολα, είτε σε όλο το σώμα είτε κυρίως στα χέρια και τα πόδια.",
            "management": "Η αποφυγή τριβής, θερμότητας και υγρασίας μειώνει την απολέπιση.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0017265",
            "name": "Συγγενής ιχθύαση αυτοσωμικής υπολειπόμενης κληρονομικότητας",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Ομάδα υπολειπόμενων ιχθύασεων, συμπεριλαμβανομένης της ιχθύασης harlequin και της λαμελλώδους ιχθύασης, που συνήθως εμφανίζονται κατά τη γέννηση, συχνά με μεμβράνη κολλοδίου.",
            "management": "Η έγκαιρη διάγνωση καθοδηγεί τη νεογνική φροντίδα, τα σχήματα εφαρμογής εμολλιέντων και κερατολυτικών, καθώς και τις προφυλάξεις για την ανοχή στη θερμότητα.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/inherited-ichthyoses"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      }
    ],
    "related": [
      {
        "slug": "csta",
        "symbol": "CSTA",
        "name": "cystatin A",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/csta"
      },
      {
        "slug": "abca12",
        "symbol": "ABCA12",
        "name": "ATP binding cassette subfamily A member 12",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abca12"
      },
      {
        "slug": "alox12b",
        "symbol": "ALOX12B",
        "name": "arachidonate 12-lipoxygenase, 12R type",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/alox12b"
      },
      {
        "slug": "aloxe3",
        "symbol": "ALOXE3",
        "name": "arachidonate epidermal lipoxygenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aloxe3"
      },
      {
        "slug": "cdsn",
        "symbol": "CDSN",
        "name": "corneodesmosin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cdsn"
      },
      {
        "slug": "cers3",
        "symbol": "CERS3",
        "name": "ceramide synthase 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cers3"
      },
      {
        "slug": "cyp4f22",
        "symbol": "CYP4F22",
        "name": "cytochrome P450 family 4 subfamily F member 22",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cyp4f22"
      },
      {
        "slug": "flg2",
        "symbol": "FLG2",
        "name": "filaggrin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/flg2"
      },
      {
        "slug": "krt2",
        "symbol": "KRT2",
        "name": "keratin 2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/krt2"
      },
      {
        "slug": "lipn",
        "symbol": "LIPN",
        "name": "lipase family member N",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lipn"
      },
      {
        "slug": "nipal4",
        "symbol": "NIPAL4",
        "name": "NIPA like domain containing 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nipal4"
      },
      {
        "slug": "pnpla1",
        "symbol": "PNPLA1",
        "name": "patatin like domain 1, omega-hydroxyceramide transacylase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pnpla1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}