{
  "url": "https://dantelabs.com/et/genes/dnajb6",
  "gene": {
    "slug": "dnajb6",
    "symbol": "DNAJB6",
    "name": "DnaJ heat shock protein family (Hsp40) member B6",
    "hgnc": "HGNC:14888",
    "summary": null,
    "location": "7q36.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MRJ"
    ],
    "previousSymbols": [
      "LGMD1D"
    ],
    "ensemblId": "ENSG00000105993",
    "entrezId": 10049,
    "omim": [
      "611332"
    ],
    "uniprot": [
      "O75190"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 157337004,
      "end": 157417439,
      "strand": "+",
      "ensemblTranscript": "ENST00000262177.9",
      "refseqTranscript": "NM_058246.4",
      "ensemblProtein": "ENSP00000262177.4",
      "refseqProtein": "NP_490647.1",
      "exons": [
        {
          "start": 157337004,
          "end": 157337144
        },
        {
          "start": 157358547,
          "end": 157358637
        },
        {
          "start": 157363161,
          "end": 157363270
        },
        {
          "start": 157366502,
          "end": 157366561
        },
        {
          "start": 157367373,
          "end": 157367483
        },
        {
          "start": 157382246,
          "end": 157382377
        },
        {
          "start": 157384867,
          "end": 157385008
        },
        {
          "start": 157385541,
          "end": 157385611
        },
        {
          "start": 157409795,
          "end": 157410001
        },
        {
          "start": 157416016,
          "end": 157417439
        }
      ],
      "cds": {
        "start": 157358573,
        "end": 157416098
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 157128075,
      "end": 157210133,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 156877222,
      "end": 157877221,
      "genes": [
        {
          "symbol": "LMBR1",
          "ensemblId": "ENSG00000105983",
          "biotype": "protein_coding",
          "start": 156668946,
          "end": 156893225,
          "strand": "-",
          "slug": "lmbr1"
        },
        {
          "symbol": "NOM1",
          "ensemblId": "ENSG00000146909",
          "biotype": "protein_coding",
          "start": 156949706,
          "end": 156973176,
          "strand": "+",
          "slug": "nom1"
        },
        {
          "symbol": "MNX1",
          "ensemblId": "ENSG00000130675",
          "biotype": "protein_coding",
          "start": 156993901,
          "end": 157010668,
          "strand": "-",
          "slug": "mnx1"
        },
        {
          "symbol": "UBE3C",
          "ensemblId": "ENSG00000009335",
          "biotype": "protein_coding",
          "start": 157138908,
          "end": 157269372,
          "strand": "+",
          "slug": "ube3c"
        },
        {
          "symbol": "PTPRN2",
          "ensemblId": "ENSG00000155093",
          "biotype": "protein_coding",
          "start": 157539056,
          "end": 158587841,
          "strand": "-",
          "slug": "ptprn2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Vöölihaste lihasdüstroofia",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Vöölihaste lihasdüstroofia",
            "genes": 33,
            "inheritance": null,
            "description": "Vöölihaste lihasdüstroofia on mitme alatüübi kogum, mille pärilikkuse mustrid on erinevad (ka diagnoosi kindlaksmääramise piisavus on erinev). Selle haigusega seotud variantide kandjad peaksid kindla diagnoosi saamiseks pöörduma lihas-skeleti haiguste spetsialisti poole.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/limb-girdle-muscular-dystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-muscle-fiber-morphology",
        "name": "Abnormal muscle fiber morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-muscle-fiber-morphology"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-fiber-splitting",
        "name": "Muscle fiber splitting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-fiber-splitting"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "myofibrillar-myopathy",
        "name": "Myofibrillar myopathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myofibrillar-myopathy"
      },
      {
        "slug": "pelvic-girdle-muscle-weakness",
        "name": "Pelvic girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pelvic-girdle-muscle-weakness"
      },
      {
        "slug": "percussion-myotonia",
        "name": "Percussion myotonia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/percussion-myotonia"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "slug": "skeletal-muscle-fibrosis",
        "name": "Skeletal muscle fibrosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-fibrosis"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "shoulder-girdle-muscle-weakness",
        "name": "Weak shoulder muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ano5"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "name": "calpain 3",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/capn3"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col6a3"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dag1"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dysf"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/gmppb"
      },
      {
        "slug": "hmgcr",
        "symbol": "HMGCR",
        "name": "3-hydroxy-3-methylglutaryl-CoA reductase",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/hmgcr"
      },
      {
        "slug": "hnrnpdl",
        "symbol": "HNRNPDL",
        "name": "heterogeneous nuclear ribonucleoprotein D like",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/hnrnpdl"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}