{
  "url": "https://dantelabs.com/de/genes/hspb3",
  "gene": {
    "slug": "hspb3",
    "symbol": "HSPB3",
    "name": "heat shock protein family B (small) member 3",
    "hgnc": "HGNC:5248",
    "summary": null,
    "location": "5q11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "HSPL27"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000169271",
    "entrezId": 8988,
    "omim": [
      "604624"
    ],
    "uniprot": [
      "Q12988"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 54455699,
      "end": 54456377,
      "strand": "+",
      "ensemblTranscript": "ENST00000302005.3",
      "refseqTranscript": "NM_006308.3",
      "ensemblProtein": "ENSP00000303394.1",
      "refseqProtein": "NP_006299.1",
      "exons": [
        {
          "start": 54455699,
          "end": 54456377
        }
      ],
      "cds": {
        "start": 54455790,
        "end": 54456242
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 53751445,
      "end": 53752207,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 53956038,
      "end": 54956037,
      "genes": [
        {
          "symbol": "ARL15",
          "ensemblId": "ENSG00000185305",
          "biotype": "protein_coding",
          "start": 53883927,
          "end": 54310604,
          "strand": "-",
          "slug": "arl15"
        },
        {
          "symbol": "SNX18",
          "ensemblId": "ENSG00000178996",
          "biotype": "protein_coding",
          "start": 54517707,
          "end": 54546586,
          "strand": "+",
          "slug": "snx18"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "absent-patellar-reflexes",
        "name": "Absent knee jerk reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-patellar-reflexes"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "emg-neuropathic-changes",
        "name": "EMG: neuropathic changes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-neuropathic-changes"
      },
      {
        "slug": "hand-muscle-weakness",
        "name": "Hand muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "intrinsic-hand-muscle-atrophy",
        "name": "Intrinsic hand muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}