{
  "url": "https://dantelabs.com/cs/genes/itga6",
  "gene": {
    "slug": "itga6",
    "symbol": "ITGA6",
    "name": "integrin subunit alpha 6",
    "hgnc": "HGNC:6142",
    "summary": null,
    "location": "2q31.1",
    "locusType": "gene with protein product",
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    "previousSymbols": [],
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    "uniprot": [
      "P23229"
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      "chrom": "2",
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      "ensemblTranscript": "ENST00000684293.1",
      "refseqTranscript": "NM_000210.4",
      "ensemblProtein": "ENSP00000508249.1",
      "refseqProtein": "NP_000201.2",
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      ],
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 173292082,
      "end": 173371181,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 171967023,
      "end": 172967022,
      "genes": [
        {
          "symbol": "SLC25A12",
          "ensemblId": "ENSG00000115840",
          "biotype": "protein_coding",
          "start": 171781168,
          "end": 171999859,
          "strand": "-",
          "slug": "slc25a12"
        },
        {
          "symbol": "HAT1",
          "ensemblId": "ENSG00000128708",
          "biotype": "protein_coding",
          "start": 171922404,
          "end": 171986773,
          "strand": "+",
          "slug": "hat1"
        },
        {
          "symbol": "METAP1D",
          "ensemblId": "ENSG00000172878",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "DLX1",
          "ensemblId": "ENSG00000144355",
          "biotype": "protein_coding",
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        {
          "symbol": "DLX2",
          "ensemblId": "ENSG00000115844",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "PDK1",
          "ensemblId": "ENSG00000152256",
          "biotype": "protein_coding",
          "start": 172555373,
          "end": 172628598,
          "strand": "+",
          "slug": "pdk1"
        },
        {
          "symbol": "RAPGEF4",
          "ensemblId": "ENSG00000091428",
          "biotype": "protein_coding",
          "start": 172735274,
          "end": 173054364,
          "strand": "+",
          "slug": "rapgef4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "epidermolysis-bullosa",
        "name": "Epidermolysis Bullosa",
        "diseases": [
          {
            "mondoId": "MONDO:0019276",
            "name": "Inherited epidermolysis bullosa",
            "genes": 19,
            "inheritance": null,
            "description": "All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.",
            "management": "Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/epidermolysis-bullosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "aplasia-cutis-congenita",
        "name": "Absence of part of skin at birth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita"
      },
      {
        "slug": "aplasia-of-the-bladder",
        "name": "Absent bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-of-the-bladder"
      },
      {
        "slug": "anonychia",
        "name": "Absent nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/anonychia"
      },
      {
        "slug": "aplasia-cutis-congenita-on-trunk-or-limbs",
        "name": "Aplasia cutis congenita on trunk or limbs",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita-on-trunk-or-limbs"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "axillary-pterygium",
        "name": "Axillary pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axillary-pterygium"
      },
      {
        "slug": "esophageal-atresia",
        "name": "Birth defect in which part of esophagus did not develop",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/esophageal-atresia"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "congenital-pyloric-atresia",
        "name": "Congenital pyloric atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/congenital-pyloric-atresia"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "renal-duplication",
        "name": "Extra kidney",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-duplication"
      },
      {
        "slug": "aplasia-cutis-congenita-of-scalp",
        "name": "Focal absence of scalp tissue",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aplasia-cutis-congenita-of-scalp"
      },
      {
        "slug": "fragile-skin",
        "name": "Fragile skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/fragile-skin"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hypoplastic-dermoepidermal-hemidesmosomes",
        "name": "Hypoplastic dermoepidermal hemidesmosomes",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplastic-dermoepidermal-hemidesmosomes"
      },
      {
        "slug": "intestinal-atresia",
        "name": "Intestinal atresia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intestinal-atresia"
      },
      {
        "slug": "intractable-diarrhea",
        "name": "Intractable diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intractable-diarrhea"
      },
      {
        "slug": "lamina-lucida-cleavage",
        "name": "Lamina lucida cleavage",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lamina-lucida-cleavage"
      },
      {
        "slug": "milia",
        "name": "Milk spot",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/milia"
      },
      {
        "slug": "esophageal-stenosis",
        "name": "Narrowing of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/esophageal-stenosis"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "oral-mucosal-blisters",
        "name": "Oral mucosal blisters",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oral-mucosal-blisters"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "atrophic-scars",
        "name": "Sunken or indented skin due to damage",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/atrophic-scars"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "ureterocele",
        "name": "Ureterocele",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ureterocele"
      },
      {
        "slug": "urethral-stricture",
        "name": "Urethral stricture",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urethral-stricture"
      },
      {
        "slug": "urethrovesical-occlusion",
        "name": "Urethrovesical occlusion",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/urethrovesical-occlusion"
      },
      {
        "slug": "urinary-bladder-inflammation",
        "name": "Urinary bladder inflammation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-bladder-inflammation"
      }
    ],
    "related": [
      {
        "slug": "cd151",
        "symbol": "CD151",
        "name": "CD151 molecule (Raph blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cd151"
      },
      {
        "slug": "col17a1",
        "symbol": "COL17A1",
        "name": "collagen type XVII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/col17a1"
      },
      {
        "slug": "col7a1",
        "symbol": "COL7A1",
        "name": "collagen type VII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/col7a1"
      },
      {
        "slug": "dsp",
        "symbol": "DSP",
        "name": "desmoplakin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dsp"
      },
      {
        "slug": "dst",
        "symbol": "DST",
        "name": "dystonin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/dst"
      },
      {
        "slug": "exph5",
        "symbol": "EXPH5",
        "name": "exophilin 5",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/exph5"
      },
      {
        "slug": "fermt1",
        "symbol": "FERMT1",
        "name": "FERM domain containing kindlin 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/fermt1"
      },
      {
        "slug": "itga3",
        "symbol": "ITGA3",
        "name": "integrin subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/itga3"
      },
      {
        "slug": "itgb4",
        "symbol": "ITGB4",
        "name": "integrin subunit beta 4",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/itgb4"
      },
      {
        "slug": "jup",
        "symbol": "JUP",
        "name": "junction plakoglobin",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/jup"
      },
      {
        "slug": "klhl24",
        "symbol": "KLHL24",
        "name": "kelch like family member 24",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/klhl24"
      },
      {
        "slug": "krt14",
        "symbol": "KRT14",
        "name": "keratin 14",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/krt14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}