{
  "url": "https://dantelabs.com/es/genes/dcdc2",
  "gene": {
    "slug": "dcdc2",
    "symbol": "DCDC2",
    "name": "doublecortin domain containing 2",
    "hgnc": "HGNC:18141",
    "summary": null,
    "location": "6p22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RU2",
      "KIAA1154",
      "DCDC2A",
      "NPHP19"
    ],
    "previousSymbols": [
      "DFNB66"
    ],
    "ensemblId": "ENSG00000146038",
    "entrezId": 51473,
    "omim": [
      "605755"
    ],
    "uniprot": [
      "Q9UHG0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 24171755,
      "end": 24358059,
      "strand": "-",
      "ensemblTranscript": "ENST00000378454.8",
      "refseqTranscript": "NM_016356.5",
      "ensemblProtein": "ENSP00000367715.3",
      "refseqProtein": "NP_057440.2",
      "exons": [
        {
          "start": 24171755,
          "end": 24174834
        },
        {
          "start": 24178330,
          "end": 24178632
        },
        {
          "start": 24205002,
          "end": 24205102
        },
        {
          "start": 24278049,
          "end": 24278211
        },
        {
          "start": 24288852,
          "end": 24288906
        },
        {
          "start": 24290932,
          "end": 24291078
        },
        {
          "start": 24301715,
          "end": 24301846
        },
        {
          "start": 24301968,
          "end": 24302044
        },
        {
          "start": 24353569,
          "end": 24353623
        },
        {
          "start": 24357458,
          "end": 24358059
        }
      ],
      "cds": {
        "start": 24174730,
        "end": 24357750
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 24171984,
      "end": 24358280,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 23764907,
      "end": 24764906,
      "genes": [
        {
          "symbol": "NRSN1",
          "ensemblId": "ENSG00000152954",
          "biotype": "protein_coding",
          "start": 24126154,
          "end": 24154900,
          "strand": "+",
          "slug": "nrsn1"
        },
        {
          "symbol": "MRS2",
          "ensemblId": "ENSG00000124532",
          "biotype": "protein_coding",
          "start": 24402796,
          "end": 24431065,
          "strand": "+",
          "slug": "mrs2"
        },
        {
          "symbol": "GPLD1",
          "ensemblId": "ENSG00000112293",
          "biotype": "protein_coding",
          "start": 24418076,
          "end": 24495205,
          "strand": "-",
          "slug": "gpld1"
        },
        {
          "symbol": "ALDH5A1",
          "ensemblId": "ENSG00000112294",
          "biotype": "protein_coding",
          "start": 24494788,
          "end": 24544150,
          "strand": "+",
          "slug": "aldh5a1"
        },
        {
          "symbol": "KIAA0319",
          "ensemblId": "ENSG00000137261",
          "biotype": "protein_coding",
          "start": 24544104,
          "end": 24646197,
          "strand": "-",
          "slug": "kiaa0319"
        },
        {
          "symbol": "TDP2",
          "ensemblId": "ENSG00000111802",
          "biotype": "protein_coding",
          "start": 24649917,
          "end": 24667052,
          "strand": "-",
          "slug": "tdp2"
        },
        {
          "symbol": "ACOT13",
          "ensemblId": "ENSG00000112304",
          "biotype": "protein_coding",
          "start": 24666901,
          "end": 24714084,
          "strand": "+",
          "slug": "acot13"
        },
        {
          "symbol": "C6orf62",
          "ensemblId": "ENSG00000112308",
          "biotype": "protein_coding",
          "start": 24704105,
          "end": 24720900,
          "strand": "-",
          "slug": "c6orf62"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "nephronophthisis-senior-loken-syndrome",
        "name": "Nefronoptisis y síndrome de Senior-Løken",
        "diseases": [
          {
            "mondoId": "MONDO:0019005",
            "name": "Nefronoptisis",
            "genes": 17,
            "inheritance": "autosomal-recessive",
            "description": "Enfermedad renal de herencia autosómica recesiva, causada por variantes en NPHP1 y en otros genes de los cilios, en la que una cicatrización tubulointersticial progresiva lleva a insuficiencia renal, normalmente en las tres primeras décadas de la vida.",
            "management": "Conocer su resultado permite realizar un seguimiento periódico de la función renal, planificar a tiempo la diálisis o el trasplante y realizar pruebas de portador a los familiares.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/nephronophthisis-senior-loken-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-renal-interstitial-morphology",
        "name": "Abnormal renal interstitial morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-renal-interstitial-morphology"
      },
      {
        "slug": "abnormal-urinary-electrolyte-concentration",
        "name": "Abnormal urinary electrolyte concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-urinary-electrolyte-concentration"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "agitation",
        "name": "Agitation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agitation"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "bile-duct-proliferation",
        "name": "Bile duct proliferation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bile-duct-proliferation"
      },
      {
        "slug": "biliary-cirrhosis",
        "name": "Biliary cirrhosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/biliary-cirrhosis"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "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": "acholic-stools",
        "name": "Clay colored stools",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acholic-stools"
      },
      {
        "slug": "diffuse-cerebral-atrophy",
        "name": "Diffuse cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-cerebral-atrophy"
      },
      {
        "slug": "ductal-bile-plugs",
        "name": "Ductal bile plugs",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ductal-bile-plugs"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "congenital-hepatic-fibrosis",
        "name": "Excessive buildup of connective tissue and scarring of liver at birth",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis"
      },
      {
        "slug": "polydipsia",
        "name": "Extreme thirst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polydipsia"
      },
      {
        "slug": "hepatic-bridging-fibrosis",
        "name": "Hepatic bridging fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-bridging-fibrosis"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "increased-total-bilirubin",
        "name": "High bili total",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-bilirubin"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "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": "hyperechogenic-kidneys",
        "name": "Hyperechogenic kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperechogenic-kidneys"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "renal-atrophy",
        "name": "Kidney degeneration",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-atrophy"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "malformation-of-the-hepatic-ductal-plate",
        "name": "Malformation of the hepatic ductal plate",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malformation-of-the-hepatic-ductal-plate"
      },
      {
        "slug": "nephronophthisis",
        "name": "Nephronophthisis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nephronophthisis"
      },
      {
        "slug": "portal-fibrosis",
        "name": "Portal fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-fibrosis"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "reduced-number-of-intrahepatic-bile-ducts",
        "name": "Reduced number of intrahepatic bile ducts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-number-of-intrahepatic-bile-ducts"
      },
      {
        "slug": "reduced-renal-corticomedullary-differentiation",
        "name": "Reduced renal corticomedullary differentiation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-renal-corticomedullary-differentiation"
      },
      {
        "slug": "renal-corticomedullary-cysts",
        "name": "Renal corticomedullary cysts",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-corticomedullary-cysts"
      },
      {
        "slug": "renal-interstitial-fibrosis",
        "name": "Renal interstitial fibrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-interstitial-fibrosis"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "sclerosing-cholangitis",
        "name": "Sclerosing cholangitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sclerosing-cholangitis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "cholestasis",
        "name": "Slowed or blocked flow of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cholestasis"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "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": "suicidal-ideation",
        "name": "Suicidal ideation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/suicidal-ideation"
      },
      {
        "slug": "thickening-of-the-tubular-basement-membrane",
        "name": "Thickening of the tubular basement membrane",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickening-of-the-tubular-basement-membrane"
      },
      {
        "slug": "tubular-luminal-dilatation",
        "name": "Tubular luminal dilatation",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tubular-luminal-dilatation"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [
      {
        "slug": "adamts9",
        "symbol": "ADAMTS9",
        "name": "ADAM metallopeptidase with thrombospondin type 1 motif 9",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/adamts9"
      },
      {
        "slug": "anks6",
        "symbol": "ANKS6",
        "name": "ankyrin repeat and sterile alpha motif domain containing 6",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/anks6"
      },
      {
        "slug": "cep164",
        "symbol": "CEP164",
        "name": "centrosomal protein 164",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/cep164"
      },
      {
        "slug": "cep83",
        "symbol": "CEP83",
        "name": "centrosomal protein 83",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/cep83"
      },
      {
        "slug": "glis2",
        "symbol": "GLIS2",
        "name": "GLIS family zinc finger 2",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/glis2"
      },
      {
        "slug": "invs",
        "symbol": "INVS",
        "name": "inversin",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/invs"
      },
      {
        "slug": "mapkbp1",
        "symbol": "MAPKBP1",
        "name": "mitogen-activated protein kinase binding protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/mapkbp1"
      },
      {
        "slug": "nek8",
        "symbol": "NEK8",
        "name": "NIMA related kinase 8",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/nek8"
      },
      {
        "slug": "nphp1",
        "symbol": "NPHP1",
        "name": "nephrocystin 1",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/nphp1"
      },
      {
        "slug": "nphp3",
        "symbol": "NPHP3",
        "name": "nephrocystin 3",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/nphp3"
      },
      {
        "slug": "nphp4",
        "symbol": "NPHP4",
        "name": "nephrocystin 4",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/nphp4"
      },
      {
        "slug": "tmem67",
        "symbol": "TMEM67",
        "name": "transmembrane protein 67",
        "shared": 1,
        "url": "https://dantelabs.com/es/genes/tmem67"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}