{
  "url": "https://dantelabs.com/el/genes/nr3c2",
  "gene": {
    "slug": "nr3c2",
    "symbol": "NR3C2",
    "name": "nuclear receptor subfamily 3 group C member 2",
    "hgnc": "HGNC:7979",
    "summary": null,
    "location": "4q31.23",
    "locusType": "gene with protein product",
    "aliases": [
      "MR"
    ],
    "previousSymbols": [
      "MLR"
    ],
    "ensemblId": "ENSG00000151623",
    "entrezId": 4306,
    "omim": [
      "600983"
    ],
    "uniprot": [
      "P08235"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 148078764,
      "end": 148442414,
      "strand": "-",
      "ensemblTranscript": "ENST00000358102.8",
      "refseqTranscript": "NM_000901.5",
      "ensemblProtein": "ENSP00000350815.3",
      "refseqProtein": "NP_000892.2",
      "exons": [
        {
          "start": 148078764,
          "end": 148081499
        },
        {
          "start": 148114104,
          "end": 148114261
        },
        {
          "start": 148120158,
          "end": 148120288
        },
        {
          "start": 148152469,
          "end": 148152613
        },
        {
          "start": 148154551,
          "end": 148154901
        },
        {
          "start": 148194746,
          "end": 148194862
        },
        {
          "start": 148259978,
          "end": 148260117
        },
        {
          "start": 148435104,
          "end": 148436862
        },
        {
          "start": 148442160,
          "end": 148442414
        }
      ],
      "cds": {
        "start": 148081344,
        "end": 148436860
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 148999913,
      "end": 149365850,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 147715113,
      "end": 148806065,
      "genes": [
        {
          "symbol": "ARHGAP10",
          "ensemblId": "ENSG00000071205",
          "biotype": "protein_coding",
          "start": 147731922,
          "end": 148072780,
          "strand": "+",
          "slug": "arhgap10"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "monogenic-hypertension-mineralocorticoid-disorders",
        "name": "Μονογονιδιακή υπέρταση και διαταραχές μεταλλοκορτικοειδών",
        "diseases": [
          {
            "mondoId": "MONDO:0019161",
            "name": "Ψευδοϋπαλδοστερονισμός τύπου 1",
            "genes": 4,
            "inheritance": null,
            "description": "Πάθηση απώλειας αλατιού, κατά την οποία ο οργανισμός δεν ανταποκρίνεται στην αλδοστερόνη, και που οφείλεται σε μεταβολές στο NR3C2 (ηπιότερη μορφή περιορισμένη στους νεφρούς) ή στα γονίδια του διαύλου νατρίου SCNN1 (σοβαρότερη μορφή που προσβάλλει πολλά όργανα).",
            "management": "Η γνώση αυτής της πάθησης υποστηρίζει τη χορήγηση αλατιού στην πρώιμη βρεφική ηλικία και την παρακολούθηση του καλίου.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/monogenic-hypertension-mineralocorticoid-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "decreased-circulating-renin-concentration",
        "name": "Decreased circulating renin concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-renin-concentration"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-renin-concentration"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperactive-renin-angiotensin-system",
        "name": "Hyperactive renin-angiotensin system",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/hyperactive-renin-angiotensin-system"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "decreased-circulating-aldosterone-concentration",
        "name": "Low blood aldosterone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-aldosterone-concentration"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hyponatremia",
        "name": "Low blood sodium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyponatremia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "pseudohypoaldosteronism",
        "name": "Pseudohypoaldosteronism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/pseudohypoaldosteronism"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "scnn1a",
        "symbol": "SCNN1A",
        "name": "sodium channel epithelial 1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/scnn1a"
      },
      {
        "slug": "scnn1b",
        "symbol": "SCNN1B",
        "name": "sodium channel epithelial 1 subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/scnn1b"
      },
      {
        "slug": "scnn1g",
        "symbol": "SCNN1G",
        "name": "sodium channel epithelial 1 subunit gamma",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/scnn1g"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}