{
  "url": "https://dantelabs.com/genes/emp2",
  "gene": {
    "slug": "emp2",
    "symbol": "EMP2",
    "name": "epithelial membrane protein 2",
    "hgnc": "HGNC:3334",
    "summary": null,
    "location": "16p13.13",
    "locusType": "gene with protein product",
    "aliases": [
      "XMP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000213853",
    "entrezId": 2013,
    "omim": [
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    ],
    "uniprot": [
      "P54851"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 10528422,
      "end": 10580598,
      "strand": "-",
      "ensemblTranscript": "ENST00000359543.8",
      "refseqTranscript": "NM_001424.6",
      "ensemblProtein": "ENSP00000352540.3",
      "refseqProtein": "NP_001415.1",
      "exons": [
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        },
        {
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        {
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        }
      ],
      "cds": {
        "start": 10532905,
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 10622279,
      "end": 10674555,
      "strand": "-"
    },
    "neighbourhood": {
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      "start": 10054510,
      "end": 11054509,
      "genes": [
        {
          "symbol": "GRIN2A",
          "ensemblId": "ENSG00000183454",
          "biotype": "protein_coding",
          "start": 9753404,
          "end": 10183495,
          "strand": "-",
          "slug": "grin2a"
        },
        {
          "symbol": "ATF7IP2",
          "ensemblId": "ENSG00000166669",
          "biotype": "protein_coding",
          "start": 10326434,
          "end": 10483640,
          "strand": "+",
          "slug": "atf7ip2"
        },
        {
          "symbol": "TEKT5",
          "ensemblId": "ENSG00000153060",
          "biotype": "protein_coding",
          "start": 10627501,
          "end": 10694930,
          "strand": "-",
          "slug": "tekt5"
        },
        {
          "symbol": "NUBP1",
          "ensemblId": "ENSG00000103274",
          "biotype": "protein_coding",
          "start": 10743786,
          "end": 10769812,
          "strand": "+",
          "slug": "nubp1"
        },
        {
          "symbol": "TVP23A",
          "ensemblId": "ENSG00000166676",
          "biotype": "protein_coding",
          "start": 10760919,
          "end": 10818794,
          "strand": "-",
          "slug": "tvp23a"
        },
        {
          "symbol": "CIITA",
          "ensemblId": "ENSG00000179583",
          "biotype": "protein_coding",
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          "end": 10943021,
          "strand": "+",
          "slug": "ciita"
        },
        {
          "symbol": "DEXI",
          "ensemblId": "ENSG00000182108",
          "biotype": "protein_coding",
          "start": 10928891,
          "end": 10942481,
          "strand": "-",
          "slug": "dexi"
        },
        {
          "symbol": "CLEC16A",
          "ensemblId": "ENSG00000038532",
          "biotype": "protein_coding",
          "start": 10944508,
          "end": 11189745,
          "strand": "+",
          "slug": "clec16a"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic Syndrome",
        "diseases": [
          {
            "mondoId": "MONDO:0002331",
            "name": "Nephrosis",
            "genes": 29,
            "inheritance": null,
            "description": "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/nephrotic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormality-of-the-nervous-system",
        "name": "Abnormality of the nervous system",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system"
      },
      {
        "slug": "chronic-kidney-disease",
        "name": "Chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-kidney-disease"
      },
      {
        "slug": "diffuse-mesangial-sclerosis",
        "name": "Diffuse mesangial sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "foamy-urine",
        "name": "Foamy urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foamy-urine"
      },
      {
        "slug": "focal-segmental-glomerulosclerosis",
        "name": "Focal segmental glomerulosclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "minimal-change-glomerulonephritis",
        "name": "Minimal change glomerulonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "slug": "periorbital-edema",
        "name": "Periorbital edema",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/periorbital-edema"
      },
      {
        "slug": "peritonitis",
        "name": "Peritonitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/peritonitis"
      },
      {
        "slug": "podocyte-foot-process-effacement",
        "name": "Podocyte foot process effacement",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/podocyte-foot-process-effacement"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "steroid-resistant-nephrotic-syndrome",
        "name": "Steroid-resistant nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome"
      }
    ],
    "related": [
      {
        "slug": "actn4",
        "symbol": "ACTN4",
        "name": "actinin alpha 4",
        "shared": 1,
        "url": "https://dantelabs.com/genes/actn4"
      },
      {
        "slug": "arhgdia",
        "symbol": "ARHGDIA",
        "name": "Rho GDP dissociation inhibitor alpha",
        "shared": 1,
        "url": "https://dantelabs.com/genes/arhgdia"
      },
      {
        "slug": "coq6",
        "symbol": "COQ6",
        "name": "coenzyme Q6, monooxygenase",
        "shared": 1,
        "url": "https://dantelabs.com/genes/coq6"
      },
      {
        "slug": "coq8b",
        "symbol": "COQ8B",
        "name": "coenzyme Q8B",
        "shared": 1,
        "url": "https://dantelabs.com/genes/coq8b"
      },
      {
        "slug": "daam2",
        "symbol": "DAAM2",
        "name": "dishevelled associated activator of morphogenesis 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/daam2"
      },
      {
        "slug": "dgke",
        "symbol": "DGKE",
        "name": "diacylglycerol kinase epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/genes/dgke"
      },
      {
        "slug": "dlc1",
        "symbol": "DLC1",
        "name": "DLC1 Rho GTPase activating protein",
        "shared": 1,
        "url": "https://dantelabs.com/genes/dlc1"
      },
      {
        "slug": "itsn1",
        "symbol": "ITSN1",
        "name": "intersectin 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/itsn1"
      },
      {
        "slug": "itsn2",
        "symbol": "ITSN2",
        "name": "intersectin 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/itsn2"
      },
      {
        "slug": "kank2",
        "symbol": "KANK2",
        "name": "KN motif and ankyrin repeat domains 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/kank2"
      },
      {
        "slug": "lama5",
        "symbol": "LAMA5",
        "name": "laminin subunit alpha 5",
        "shared": 1,
        "url": "https://dantelabs.com/genes/lama5"
      },
      {
        "slug": "lamb2",
        "symbol": "LAMB2",
        "name": "laminin subunit beta 2",
        "shared": 1,
        "url": "https://dantelabs.com/genes/lamb2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}