{
  "url": "https://dantelabs.com/tr/genes/kcnj16",
  "gene": {
    "slug": "kcnj16",
    "symbol": "KCNJ16",
    "name": "potassium inwardly rectifying channel subfamily J member 16",
    "hgnc": "HGNC:6262",
    "summary": null,
    "location": "17q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "Kir5.1",
      "BIR9"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000153822",
    "entrezId": 3773,
    "omim": [
      "605722"
    ],
    "uniprot": [
      "Q9NPI9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 70075225,
      "end": 70135608,
      "strand": "+",
      "ensemblTranscript": "ENST00000392671.6",
      "refseqTranscript": "NM_170741.4",
      "ensemblProtein": "ENSP00000376439.1",
      "refseqProtein": "NP_733937.3",
      "exons": [
        {
          "start": 70075225,
          "end": 70075390
        },
        {
          "start": 70100658,
          "end": 70100766
        },
        {
          "start": 70130879,
          "end": 70130975
        },
        {
          "start": 70131995,
          "end": 70135608
        }
      ],
      "cds": {
        "start": 70132088,
        "end": 70133344
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 68049570,
      "end": 68131749,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 69605417,
      "end": 70605416,
      "genes": [
        {
          "symbol": "KCNJ2",
          "ensemblId": "ENSG00000123700",
          "biotype": "protein_coding",
          "start": 70168302,
          "end": 70180044,
          "strand": "+",
          "slug": "kcnj2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "kcnj16-related-hypokalaemic-tubulopathy",
        "name": "KCNJ16 ile İlişkili Hipokalemik Tübülopati",
        "diseases": [
          {
            "mondoId": "MONDO:0009423",
            "name": "KCNJ16 ile İlişkili Hipokalemik Tübülopati",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Böbrek tübüllerinde kullanılan Kir5.1 potasyum kanalı alt birimini kodlayan KCNJ16 genindeki her iki kopyada görülen işlev kaybına yol açan değişikliklerden kaynaklanır. Ebeveynlerin her biri genellikle değişikliğe uğramış bir kopya taşır.",
            "management": "Bir böbrek uzmanının yönlendirmesiyle potasyum takviyesi ve asit-baz dengesinin düzeltilmesi, düzenli kan takibi ve işitme değerlendirmesi. Genetik danışmanlık ve yakın akrabalarda taşıyıcılık testi, tekrarlama riskini açıklığa kavuşturur.",
            "evidence": {
              "gencc": [
                "ClinGen"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/kcnj16-related-hypokalaemic-tubulopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "acidosis",
        "name": "Acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acidosis"
      },
      {
        "slug": "increased-circulating-renin-concentration",
        "name": "Elevated blood renin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-renin-concentration"
      },
      {
        "slug": "increased-circulating-aldosterone-concentration",
        "name": "Elevated plasma aldosterone",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration"
      },
      {
        "slug": "renal-salt-wasting",
        "name": "Loss of salt in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-salt-wasting"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}