{
  "url": "https://dantelabs.com/it/genes/itsn1",
  "gene": {
    "slug": "itsn1",
    "symbol": "ITSN1",
    "name": "intersectin 1",
    "hgnc": "HGNC:6183",
    "summary": null,
    "location": "21q22.11",
    "locusType": "gene with protein product",
    "aliases": [
      "SH3P17",
      "MGC134948",
      "MGC134949"
    ],
    "previousSymbols": [
      "SH3D1A",
      "ITSN"
    ],
    "ensemblId": "ENSG00000205726",
    "entrezId": 6453,
    "omim": [
      "602442"
    ],
    "uniprot": [
      "Q15811"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 33642501,
      "end": 33899861,
      "strand": "+",
      "ensemblTranscript": "ENST00000381318.8",
      "refseqTranscript": "NM_003024.3",
      "ensemblProtein": "ENSP00000370719.3",
      "refseqProtein": "NP_003015.2",
      "exons": [
        {
          "start": 33642501,
          "end": 33642713
        },
        {
          "start": 33718797,
          "end": 33718856
        },
        {
          "start": 33721178,
          "end": 33721270
        },
        {
          "start": 33722588,
          "end": 33722651
        },
        {
          "start": 33735044,
          "end": 33735204
        },
        {
          "start": 33750143,
          "end": 33750322
        },
        {
          "start": 33751810,
          "end": 33751906
        },
        {
          "start": 33755297,
          "end": 33755397
        },
        {
          "start": 33761923,
          "end": 33761986
        },
        {
          "start": 33765875,
          "end": 33766012
        },
        {
          "start": 33767713,
          "end": 33767828
        },
        {
          "start": 33772061,
          "end": 33772323
        },
        {
          "start": 33774729,
          "end": 33774878
        },
        {
          "start": 33774968,
          "end": 33775108
        },
        {
          "start": 33781461,
          "end": 33781548
        },
        {
          "start": 33781994,
          "end": 33782133
        },
        {
          "start": 33794341,
          "end": 33794468
        },
        {
          "start": 33797379,
          "end": 33797608
        },
        {
          "start": 33799808,
          "end": 33799929
        },
        {
          "start": 33802430,
          "end": 33802444
        },
        {
          "start": 33810975,
          "end": 33811222
        },
        {
          "start": 33813913,
          "end": 33814072
        },
        {
          "start": 33818267,
          "end": 33818472
        },
        {
          "start": 33819241,
          "end": 33819323
        },
        {
          "start": 33823487,
          "end": 33823653
        },
        {
          "start": 33826818,
          "end": 33826863
        },
        {
          "start": 33829624,
          "end": 33829745
        },
        {
          "start": 33834307,
          "end": 33834424
        },
        {
          "start": 33836441,
          "end": 33836632
        },
        {
          "start": 33856736,
          "end": 33856857
        },
        {
          "start": 33858686,
          "end": 33858792
        },
        {
          "start": 33865151,
          "end": 33865334
        },
        {
          "start": 33867233,
          "end": 33867331
        },
        {
          "start": 33875354,
          "end": 33875521
        },
        {
          "start": 33882243,
          "end": 33882455
        },
        {
          "start": 33883550,
          "end": 33883671
        },
        {
          "start": 33885041,
          "end": 33885123
        },
        {
          "start": 33885439,
          "end": 33885522
        },
        {
          "start": 33886287,
          "end": 33886460
        },
        {
          "start": 33888152,
          "end": 33899861
        }
      ],
      "cds": {
        "start": 33718829,
        "end": 33888300
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 35014706,
      "end": 35272165,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 33271181,
      "end": 34271180,
      "genes": [
        {
          "symbol": "IFNAR2-IL10RB",
          "ensemblId": "ENSG00000249624",
          "biotype": "protein_coding",
          "start": 33229892,
          "end": 33297160,
          "strand": "+"
        },
        {
          "symbol": "IL10RB",
          "ensemblId": "ENSG00000243646",
          "biotype": "protein_coding",
          "start": 33265958,
          "end": 33311420,
          "strand": "+",
          "slug": "il10rb"
        },
        {
          "symbol": "IFNAR1",
          "ensemblId": "ENSG00000142166",
          "biotype": "protein_coding",
          "start": 33324387,
          "end": 33359864,
          "strand": "+",
          "slug": "ifnar1"
        },
        {
          "symbol": "IFNGR2",
          "ensemblId": "ENSG00000159128",
          "biotype": "protein_coding",
          "start": 33403205,
          "end": 33479348,
          "strand": "+",
          "slug": "ifngr2"
        },
        {
          "symbol": "TMEM50B",
          "ensemblId": "ENSG00000142188",
          "biotype": "protein_coding",
          "start": 33432190,
          "end": 33480004,
          "strand": "-",
          "slug": "tmem50b"
        },
        {
          "symbol": "DNAJC28",
          "ensemblId": "ENSG00000177692",
          "biotype": "protein_coding",
          "start": 33485615,
          "end": 33491753,
          "strand": "-",
          "slug": "dnajc28"
        },
        {
          "symbol": "GART",
          "ensemblId": "ENSG00000159131",
          "biotype": "protein_coding",
          "start": 33498517,
          "end": 33543524,
          "strand": "-",
          "slug": "gart"
        },
        {
          "symbol": "SON",
          "ensemblId": "ENSG00000159140",
          "biotype": "protein_coding",
          "start": 33542214,
          "end": 33577481,
          "strand": "+",
          "slug": "son"
        },
        {
          "symbol": "DONSON",
          "ensemblId": "ENSG00000159147",
          "biotype": "protein_coding",
          "start": 33559542,
          "end": 33589015,
          "strand": "-",
          "slug": "donson"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000249209",
          "biotype": "protein_coding",
          "start": 33584687,
          "end": 33931607,
          "strand": "-"
        },
        {
          "symbol": "CRYZL1",
          "ensemblId": "ENSG00000205758",
          "biotype": "protein_coding",
          "start": 33589341,
          "end": 33643926,
          "strand": "-",
          "slug": "cryzl1"
        },
        {
          "symbol": "ATP5PO",
          "ensemblId": "ENSG00000241837",
          "biotype": "protein_coding",
          "start": 33901027,
          "end": 33915853,
          "strand": "-",
          "slug": "atp5po"
        },
        {
          "symbol": "MRPS6",
          "ensemblId": "ENSG00000243927",
          "biotype": "protein_coding",
          "start": 34072889,
          "end": 34362252,
          "strand": "+",
          "slug": "mrps6"
        },
        {
          "symbol": "SLC5A3",
          "ensemblId": "ENSG00000198743",
          "biotype": "protein_coding",
          "start": 34073509,
          "end": 34106260,
          "strand": "+",
          "slug": "slc5a3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000293606",
          "biotype": "protein_coding",
          "start": 34073509,
          "end": 34143037,
          "strand": "+"
        },
        {
          "symbol": "KCNE2",
          "ensemblId": "ENSG00000159197",
          "biotype": "protein_coding",
          "start": 34180729,
          "end": 34371390,
          "strand": "+",
          "slug": "kcne2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephrotic-syndrome",
        "name": "Sindrome nefrosica",
        "diseases": [
          {
            "mondoId": "MONDO:0002331",
            "name": "Nefrosi",
            "genes": 29,
            "inheritance": null,
            "description": "Processi patologici a carico del RENE privi di componenti infiammatorie o neoplastiche. La nefrosi può essere un disturbo primario o una complicanza secondaria di altre patologie. È caratterizzata dalla SINDROME NEFROSICA, che indica la presenza di PROTEINURIA e IPOALBUMINEMIA accompagnate da EDEMA.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/nephrotic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [],
    "related": [
      {
        "slug": "actn4",
        "symbol": "ACTN4",
        "name": "actinin alpha 4",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/actn4"
      },
      {
        "slug": "arhgdia",
        "symbol": "ARHGDIA",
        "name": "Rho GDP dissociation inhibitor alpha",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/arhgdia"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "name": "coenzyme Q6, monooxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/coq6"
      },
      {
        "slug": "coq8b",
        "symbol": "COQ8B",
        "name": "coenzyme Q8B",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/coq8b"
      },
      {
        "slug": "daam2",
        "symbol": "DAAM2",
        "name": "dishevelled associated activator of morphogenesis 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/daam2"
      },
      {
        "slug": "dgke",
        "symbol": "DGKE",
        "name": "diacylglycerol kinase epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dgke"
      },
      {
        "slug": "dlc1",
        "symbol": "DLC1",
        "name": "DLC1 Rho GTPase activating protein",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/dlc1"
      },
      {
        "slug": "emp2",
        "symbol": "EMP2",
        "name": "epithelial membrane protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/emp2"
      },
      {
        "slug": "itsn2",
        "symbol": "ITSN2",
        "name": "intersectin 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/itsn2"
      },
      {
        "slug": "kank2",
        "symbol": "KANK2",
        "name": "KN motif and ankyrin repeat domains 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/kank2"
      },
      {
        "slug": "lama5",
        "symbol": "LAMA5",
        "name": "laminin subunit alpha 5",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/lama5"
      },
      {
        "slug": "lamb2",
        "symbol": "LAMB2",
        "name": "laminin subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/it/genes/lamb2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}