{
  "url": "https://dantelabs.com/nl/genes/slc9a3",
  "gene": {
    "slug": "slc9a3",
    "symbol": "SLC9A3",
    "name": "solute carrier family 9 member A3",
    "hgnc": "HGNC:11073",
    "summary": null,
    "location": "5p15.33",
    "locusType": "gene with protein product",
    "aliases": [
      "NHE-3"
    ],
    "previousSymbols": [
      "NHE3"
    ],
    "ensemblId": "ENSG00000066230",
    "entrezId": 6550,
    "omim": [
      "182307"
    ],
    "uniprot": [
      "P48764"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 470456,
      "end": 524449,
      "strand": "-",
      "ensemblTranscript": "ENST00000264938.8",
      "refseqTranscript": "NM_004174.4",
      "ensemblProtein": "ENSP00000264938.3",
      "refseqProtein": "NP_004165.2",
      "exons": [
        {
          "start": 470456,
          "end": 473382
        },
        {
          "start": 474883,
          "end": 475132
        },
        {
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        },
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        {
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        },
        {
          "start": 485153,
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        },
        {
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        },
        {
          "start": 491769,
          "end": 492071
        },
        {
          "start": 524112,
          "end": 524449
        }
      ],
      "cds": {
        "start": 473379,
        "end": 524322
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 473425,
      "end": 524447,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 1,
      "end": 997452,
      "genes": [
        {
          "symbol": "PLEKHG4B",
          "ensemblId": "ENSG00000153404",
          "biotype": "protein_coding",
          "start": 92001,
          "end": 189972,
          "strand": "+",
          "slug": "plekhg4b"
        },
        {
          "symbol": "LRRC14B",
          "ensemblId": "ENSG00000185028",
          "biotype": "protein_coding",
          "start": 191451,
          "end": 196334,
          "strand": "+",
          "slug": "lrrc14b"
        },
        {
          "symbol": "CCDC127",
          "ensemblId": "ENSG00000164366",
          "biotype": "protein_coding",
          "start": 196868,
          "end": 218162,
          "strand": "-",
          "slug": "ccdc127"
        },
        {
          "symbol": "SDHA",
          "ensemblId": "ENSG00000073578",
          "biotype": "protein_coding",
          "start": 218206,
          "end": 257084,
          "strand": "+",
          "slug": "sdha"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000286001",
          "biotype": "protein_coding",
          "start": 218298,
          "end": 314955,
          "strand": "+"
        },
        {
          "symbol": "PDCD6",
          "ensemblId": "ENSG00000249915",
          "biotype": "protein_coding",
          "start": 271452,
          "end": 314978,
          "strand": "+",
          "slug": "pdcd6"
        },
        {
          "symbol": "PDCD6-AHRR",
          "ensemblId": "ENSG00000288622",
          "biotype": "protein_coding",
          "start": 271670,
          "end": 438291,
          "strand": "+",
          "slug": "pdcd6-ahrr"
        },
        {
          "symbol": "AHRR",
          "ensemblId": "ENSG00000063438",
          "biotype": "protein_coding",
          "start": 320682,
          "end": 438307,
          "strand": "+",
          "slug": "ahrr"
        },
        {
          "symbol": "EXOC3",
          "ensemblId": "ENSG00000180104",
          "biotype": "protein_coding",
          "start": 442522,
          "end": 471939,
          "strand": "+",
          "slug": "exoc3"
        },
        {
          "symbol": "CEP72",
          "ensemblId": "ENSG00000112877",
          "biotype": "protein_coding",
          "start": 612305,
          "end": 667703,
          "strand": "+",
          "slug": "cep72"
        },
        {
          "symbol": "TPPP",
          "ensemblId": "ENSG00000171368",
          "biotype": "protein_coding",
          "start": 658850,
          "end": 693997,
          "strand": "-",
          "slug": "tppp"
        },
        {
          "symbol": "ZDHHC11B",
          "ensemblId": "ENSG00000206077",
          "biotype": "protein_coding",
          "start": 710355,
          "end": 784729,
          "strand": "-",
          "slug": "zdhhc11b"
        },
        {
          "symbol": "ZDHHC11",
          "ensemblId": "ENSG00000188818",
          "biotype": "protein_coding",
          "start": 795605,
          "end": 858973,
          "strand": "-",
          "slug": "zdhhc11"
        },
        {
          "symbol": "BRD9",
          "ensemblId": "ENSG00000028310",
          "biotype": "protein_coding",
          "start": 850291,
          "end": 892838,
          "strand": "-",
          "slug": "brd9"
        },
        {
          "symbol": "TRIP13",
          "ensemblId": "ENSG00000071539",
          "biotype": "protein_coding",
          "start": 892849,
          "end": 919357,
          "strand": "+",
          "slug": "trip13"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-diarrhoeas-and-enteropathies",
        "name": "Aangeboren diarree en enteropathieën",
        "diseases": [
          {
            "mondoId": "MONDO:0000824",
            "name": "Aangeboren diarree",
            "genes": 12,
            "inheritance": null,
            "description": "Erfelijke aandoeningen, waaronder aangeboren chloridediarree (SLC26A3), microvillus-inclusieziekte (MYO5B), tufting-enteropathie (EPCAM) en aangeboren natriumdiarree (SPINT2, SLC9A3), die chronische diarree veroorzaken vanaf de vroege zuigelingenleeftijd.",
            "management": "Een specifieke diagnose stuurt de behandeling, zoals vervanging van elektrolyten bij chloridediarree, of vroegtijdige planning van parenterale voeding of darmtransplantatie bij microvillus-inclusieziekte en tufting-enteropathie.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/congenital-diarrhoeas-and-enteropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "absent-vas-deferens",
        "name": "Absent vas deferens",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-vas-deferens"
      },
      {
        "slug": "gastroesophageal-reflux",
        "name": "Acid reflux",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroesophageal-reflux"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "decreased-body-mass-index",
        "name": "Decreased body mass index",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-body-mass-index"
      },
      {
        "slug": "dependency-on-parenteral-nutrition",
        "name": "Dependency on parenteral nutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dependency-on-parenteral-nutrition"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "elevated-fecal-ph",
        "name": "Elevated fecal pH",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-fecal-ph"
      },
      {
        "slug": "elevated-fecal-sodium",
        "name": "Elevated fecal sodium",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-fecal-sodium"
      },
      {
        "slug": "elevated-stool-chloride-content",
        "name": "Elevated stool chloride content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-stool-chloride-content"
      },
      {
        "slug": "elevated-sweat-chloride",
        "name": "Elevated sweat chloride",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-sweat-chloride"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "ileal-ulcer",
        "name": "Ileal ulcer",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ileal-ulcer"
      },
      {
        "slug": "exocrine-pancreatic-insufficiency",
        "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "meconium-ileus",
        "name": "Meconium ileus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meconium-ileus"
      },
      {
        "slug": "nasal-polyposis",
        "name": "Nasal polyposis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nasal-polyposis"
      },
      {
        "slug": "nontuberculous-mycobacterial-pulmonary-infection",
        "name": "Nontuberculous mycobacterial pulmonary infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nontuberculous-mycobacterial-pulmonary-infection"
      },
      {
        "slug": "airway-obstruction",
        "name": "Obstructive lung disease",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/airway-obstruction"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "rectal-prolapse",
        "name": "Rectum protrudes through anus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rectal-prolapse"
      },
      {
        "slug": "recurrent-aspergillus-infection",
        "name": "Recurrent Aspergillus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aspergillus-infection"
      },
      {
        "slug": "recurrent-burkholderia-cepacia-infection",
        "name": "Recurrent Burkholderia cepacia infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/recurrent-burkholderia-cepacia-infection"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-haemophilus-influenzae-infection",
        "name": "Recurrent Haemophilus influenzae infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-haemophilus-influenzae-infection"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-staphylococcus-aureus-infection",
        "name": "Recurrent Staphylococcus aureus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection"
      },
      {
        "slug": "reduced-fecal-osmolality",
        "name": "Reduced fecal osmolality",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-fecal-osmolality"
      },
      {
        "slug": "reduced-forced-expiratory-volume-in-one-second",
        "name": "Reduced forced expiratory volume in one second",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-forced-expiratory-volume-in-one-second"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "secretory-diarrhea",
        "name": "Secretory diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/secretory-diarrhea"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      }
    ],
    "related": [
      {
        "slug": "dgat1",
        "symbol": "DGAT1",
        "name": "diacylglycerol O-acyltransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/dgat1"
      },
      {
        "slug": "epcam",
        "symbol": "EPCAM",
        "name": "epithelial cell adhesion molecule",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/epcam"
      },
      {
        "slug": "gucy2c",
        "symbol": "GUCY2C",
        "name": "guanylate cyclase 2C",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/gucy2c"
      },
      {
        "slug": "myo5b",
        "symbol": "MYO5B",
        "name": "myosin VB",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/myo5b"
      },
      {
        "slug": "neurog3",
        "symbol": "NEUROG3",
        "name": "neurogenin 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/neurog3"
      },
      {
        "slug": "plvap",
        "symbol": "PLVAP",
        "name": "plasmalemma vesicle associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/plvap"
      },
      {
        "slug": "slc26a3",
        "symbol": "SLC26A3",
        "name": "solute carrier family 26 member 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/slc26a3"
      },
      {
        "slug": "slc5a1",
        "symbol": "SLC5A1",
        "name": "solute carrier family 5 member 1",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/slc5a1"
      },
      {
        "slug": "spint2",
        "symbol": "SPINT2",
        "name": "serine peptidase inhibitor, Kunitz type 2",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/spint2"
      },
      {
        "slug": "stx3",
        "symbol": "STX3",
        "name": "syntaxin 3",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/stx3"
      },
      {
        "slug": "wnt2b",
        "symbol": "WNT2B",
        "name": "Wnt family member 2B",
        "shared": 1,
        "url": "https://dantelabs.com/nl/genes/wnt2b"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}