{
  "url": "https://dantelabs.com/ro/genes/nr1h4",
  "gene": {
    "slug": "nr1h4",
    "symbol": "NR1H4",
    "name": "nuclear receptor subfamily 1 group H member 4",
    "hgnc": "HGNC:7967",
    "summary": null,
    "location": "12q23.1",
    "locusType": "gene with protein product",
    "aliases": [
      "FXR",
      "RIP14",
      "HRR1",
      "HRR-1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000012504",
    "entrezId": 9971,
    "omim": [
      "603826"
    ],
    "uniprot": [
      "Q96RI1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 100473866,
      "end": 100564414,
      "strand": "+",
      "ensemblTranscript": "ENST00000392986.8",
      "refseqTranscript": "NM_001206979.2",
      "ensemblProtein": "ENSP00000376712.3",
      "refseqProtein": "NP_001193908.1",
      "exons": [
        {
          "start": 100473866,
          "end": 100474059
        },
        {
          "start": 100492503,
          "end": 100492637
        },
        {
          "start": 100493270,
          "end": 100493402
        },
        {
          "start": 100510778,
          "end": 100511143
        },
        {
          "start": 100532458,
          "end": 100532610
        },
        {
          "start": 100534890,
          "end": 100535023
        },
        {
          "start": 100536512,
          "end": 100536610
        },
        {
          "start": 100536948,
          "end": 100537047
        },
        {
          "start": 100540672,
          "end": 100540818
        },
        {
          "start": 100561885,
          "end": 100561998
        },
        {
          "start": 100563251,
          "end": 100564414
        }
      ],
      "cds": {
        "start": 100493324,
        "end": 100563489
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 100867486,
      "end": 100958191,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 100019140,
      "end": 101019139,
      "genes": [
        {
          "symbol": "BLTP3B",
          "ensemblId": "ENSG00000111647",
          "biotype": "protein_coding",
          "start": 100028455,
          "end": 100142889,
          "strand": "-",
          "slug": "bltp3b"
        },
        {
          "symbol": "ACTR6",
          "ensemblId": "ENSG00000075089",
          "biotype": "protein_coding",
          "start": 100199122,
          "end": 100241865,
          "strand": "+",
          "slug": "actr6"
        },
        {
          "symbol": "DEPDC4",
          "ensemblId": "ENSG00000166153",
          "biotype": "protein_coding",
          "start": 100203669,
          "end": 100267094,
          "strand": "-",
          "slug": "depdc4"
        },
        {
          "symbol": "SCYL2",
          "ensemblId": "ENSG00000136021",
          "biotype": "protein_coding",
          "start": 100266830,
          "end": 100341993,
          "strand": "+",
          "slug": "scyl2"
        },
        {
          "symbol": "SLC17A8",
          "ensemblId": "ENSG00000179520",
          "biotype": "protein_coding",
          "start": 100356842,
          "end": 100422055,
          "strand": "+",
          "slug": "slc17a8"
        },
        {
          "symbol": "GAS2L3",
          "ensemblId": "ENSG00000139354",
          "biotype": "protein_coding",
          "start": 100573643,
          "end": 100628288,
          "strand": "+",
          "slug": "gas2l3"
        },
        {
          "symbol": "ANO4",
          "ensemblId": "ENSG00000151572",
          "biotype": "protein_coding",
          "start": 100717221,
          "end": 101128648,
          "strand": "+",
          "slug": "ano4"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-intrahepatic-cholestasis",
        "name": "Colestază intrahepatică familială",
        "diseases": [
          {
            "mondoId": "MONDO:0017290",
            "name": "Colestază intrahepatică familială",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Un caz de colestază intrahepatică cauzat de o modificare moștenită a genomului persoanei.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/familial-intrahepatic-cholestasis"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-circulating-interleukin-concentration",
        "name": "Abnormal circulating interleukin concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-interleukin-concentration"
      },
      {
        "slug": "abnormal-pineal-melatonin-secretion",
        "name": "Abnormal pineal melatonin secretion",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pineal-melatonin-secretion"
      },
      {
        "slug": "abnormality-of-the-digestive-system",
        "name": "Abnormality of the digestive system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-digestive-system"
      },
      {
        "slug": "abnormality-of-the-pancreas",
        "name": "Abnormality of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "asterixis",
        "name": "Asterixis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/asterixis"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "insomnia",
        "name": "Difficulty staying or falling asleep",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/insomnia"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-alpha-fetoprotein-concentration",
        "name": "Elevated circulating alpha-fetoprotein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alpha-fetoprotein-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "pleural-effusion",
        "name": "Fluid around lungs",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pleural-effusion"
      },
      {
        "slug": "cholecystitis",
        "name": "Gallbladder inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cholecystitis"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-serum-bile-acid-concentration",
        "name": "Increased serum bile acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-serum-bile-acid-concentration"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "pruritus-on-foot",
        "name": "Itchy feet",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pruritus-on-foot"
      },
      {
        "slug": "palmar-pruritus",
        "name": "Itchy palm",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/palmar-pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "meconium-stained-amniotic-fluid",
        "name": "Meconium stained amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meconium-stained-amniotic-fluid"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "nonimmune-hydrops-fetalis",
        "name": "Nonimmune hydrops fetalis",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "small-for-gestational-age",
        "name": "Small for gestational age",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/small-for-gestational-age"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      }
    ],
    "related": [
      {
        "slug": "abcb11",
        "symbol": "ABCB11",
        "name": "ATP binding cassette subfamily B member 11",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abcb11"
      },
      {
        "slug": "abcb4",
        "symbol": "ABCB4",
        "name": "ATP binding cassette subfamily B member 4",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/abcb4"
      },
      {
        "slug": "atp8b1",
        "symbol": "ATP8B1",
        "name": "ATPase phospholipid transporting 8B1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atp8b1"
      },
      {
        "slug": "kif12",
        "symbol": "KIF12",
        "name": "kinesin family member 12",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/kif12"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/myo5b"
      },
      {
        "slug": "pskh1",
        "symbol": "PSKH1",
        "name": "protein serine kinase H1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/pskh1"
      },
      {
        "slug": "tjp2",
        "symbol": "TJP2",
        "name": "tight junction protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/tjp2"
      },
      {
        "slug": "usp53",
        "symbol": "USP53",
        "name": "ubiquitin specific peptidase 53",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/usp53"
      },
      {
        "slug": "zfyve19",
        "symbol": "ZFYVE19",
        "name": "zinc finger FYVE-type containing 19",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/zfyve19"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}