{
  "url": "https://dantelabs.com/da/genes/fitm2",
  "gene": {
    "slug": "fitm2",
    "symbol": "FITM2",
    "name": "fat storage inducing transmembrane protein 2",
    "hgnc": "HGNC:16135",
    "summary": null,
    "location": "20q13.12",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ881L22.2",
      "FIT2"
    ],
    "previousSymbols": [
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    "ensemblId": "ENSG00000197296",
    "entrezId": 128486,
    "omim": [
      "612029"
    ],
    "uniprot": [
      "Q8N6M3"
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    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "20",
      "start": 44302840,
      "end": 44311202,
      "strand": "-",
      "ensemblTranscript": "ENST00000396825.4",
      "refseqTranscript": "NM_001080472.4",
      "ensemblProtein": "ENSP00000380037.3",
      "refseqProtein": "NP_001073941.1",
      "exons": [
        {
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          "end": 44307240
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        {
          "start": 44310976,
          "end": 44311202
        }
      ],
      "cds": {
        "start": 44306625,
        "end": 44311148
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "20",
      "start": 42931478,
      "end": 42939809,
      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "TOX2",
          "ensemblId": "ENSG00000124191",
          "biotype": "protein_coding",
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          "end": 44069616,
          "strand": "+",
          "slug": "tox2"
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        {
          "symbol": "JPH2",
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        },
        {
          "symbol": "OSER1",
          "ensemblId": "ENSG00000132823",
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          "end": 44219957,
          "strand": "-",
          "slug": "oser1"
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        {
          "symbol": "GDAP1L1",
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        },
        {
          "symbol": "R3HDML",
          "ensemblId": "ENSG00000101074",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "HNF4A",
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          "biotype": "protein_coding",
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          "slug": "hnf4a"
        },
        {
          "symbol": "TTPAL",
          "ensemblId": "ENSG00000124120",
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          "end": 44494604,
          "strand": "+",
          "slug": "ttpal"
        },
        {
          "symbol": "SERINC3",
          "ensemblId": "ENSG00000132824",
          "biotype": "protein_coding",
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          "end": 44522110,
          "strand": "-",
          "slug": "serinc3"
        },
        {
          "symbol": "PKIG",
          "ensemblId": "ENSG00000168734",
          "biotype": "protein_coding",
          "start": 44531748,
          "end": 44624819,
          "strand": "+",
          "slug": "pkig"
        },
        {
          "symbol": "ADA",
          "ensemblId": "ENSG00000196839",
          "biotype": "protein_coding",
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          "end": 44652252,
          "strand": "-",
          "slug": "ada"
        },
        {
          "symbol": "CCN5",
          "ensemblId": "ENSG00000064205",
          "biotype": "protein_coding",
          "start": 44714270,
          "end": 44728731,
          "strand": "+",
          "slug": "ccn5"
        },
        {
          "symbol": "KCNK15",
          "ensemblId": "ENSG00000124249",
          "biotype": "protein_coding",
          "start": 44745785,
          "end": 44752677,
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        {
          "symbol": "RIMS4",
          "ensemblId": "ENSG00000101098",
          "biotype": "protein_coding",
          "start": 44751808,
          "end": 44810556,
          "strand": "-",
          "slug": "rims4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}