{
  "url": "https://dantelabs.com/lt/genes/fxyd2",
  "gene": {
    "slug": "fxyd2",
    "symbol": "FXYD2",
    "name": "FXYD domain containing ion transport regulator 2",
    "hgnc": "HGNC:4026",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC12372"
    ],
    "previousSymbols": [
      "ATP1G1",
      "HOMG2"
    ],
    "ensemblId": "ENSG00000137731",
    "entrezId": 486,
    "omim": [
      "601814"
    ],
    "uniprot": [
      "P54710"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 117820057,
      "end": 117824744,
      "strand": "-",
      "ensemblTranscript": "ENST00000292079.7",
      "refseqTranscript": "NM_001680.5",
      "ensemblProtein": "ENSP00000292079.2",
      "refseqProtein": "NP_001671.2",
      "exons": [
        {
          "start": 117820057,
          "end": 117820372
        },
        {
          "start": 117820666,
          "end": 117820696
        },
        {
          "start": 117820859,
          "end": 117820895
        },
        {
          "start": 117822406,
          "end": 117822480
        },
        {
          "start": 117822679,
          "end": 117822717
        },
        {
          "start": 117824654,
          "end": 117824744
        }
      ],
      "cds": {
        "start": 117820672,
        "end": 117824678
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 117671559,
      "end": 117699413,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 117322401,
      "end": 118322400,
      "genes": [
        {
          "symbol": "CEP164",
          "ensemblId": "ENSG00000110274",
          "biotype": "protein_coding",
          "start": 117314557,
          "end": 117413616,
          "strand": "+",
          "slug": "cep164"
        },
        {
          "symbol": "DSCAML1",
          "ensemblId": "ENSG00000177103",
          "biotype": "protein_coding",
          "start": 117427772,
          "end": 117817525,
          "strand": "-",
          "slug": "dscaml1"
        },
        {
          "symbol": "FXYD6-FXYD2",
          "ensemblId": "ENSG00000255245",
          "biotype": "protein_coding",
          "start": 117820163,
          "end": 117876667,
          "strand": "-",
          "slug": "fxyd6-fxyd2"
        },
        {
          "symbol": "FXYD6",
          "ensemblId": "ENSG00000137726",
          "biotype": "protein_coding",
          "start": 117833023,
          "end": 117877675,
          "strand": "-",
          "slug": "fxyd6"
        },
        {
          "symbol": "TMPRSS13",
          "ensemblId": "ENSG00000137747",
          "biotype": "protein_coding",
          "start": 117900641,
          "end": 117929459,
          "strand": "-",
          "slug": "tmprss13"
        },
        {
          "symbol": "IL10RA",
          "ensemblId": "ENSG00000110324",
          "biotype": "protein_coding",
          "start": 117986370,
          "end": 118003037,
          "strand": "+",
          "slug": "il10ra"
        },
        {
          "symbol": "SMIM35",
          "ensemblId": "ENSG00000255274",
          "biotype": "protein_coding",
          "start": 118003634,
          "end": 118088299,
          "strand": "-",
          "slug": "smim35"
        },
        {
          "symbol": "TMPRSS4",
          "ensemblId": "ENSG00000137648",
          "biotype": "protein_coding",
          "start": 118076986,
          "end": 118125510,
          "strand": "+",
          "slug": "tmprss4"
        },
        {
          "symbol": "SCN4B",
          "ensemblId": "ENSG00000177098",
          "biotype": "protein_coding",
          "start": 118133377,
          "end": 118152906,
          "strand": "-",
          "slug": "scn4b"
        },
        {
          "symbol": "SCN2B",
          "ensemblId": "ENSG00000149575",
          "biotype": "protein_coding",
          "start": 118162806,
          "end": 118176653,
          "strand": "-",
          "slug": "scn2b"
        },
        {
          "symbol": "JAML",
          "ensemblId": "ENSG00000160593",
          "biotype": "protein_coding",
          "start": 118193725,
          "end": 118226323,
          "strand": "-",
          "slug": "jaml"
        },
        {
          "symbol": "MPZL3",
          "ensemblId": "ENSG00000160588",
          "biotype": "protein_coding",
          "start": 118226690,
          "end": 118252375,
          "strand": "-",
          "slug": "mpzl3"
        },
        {
          "symbol": "MPZL2",
          "ensemblId": "ENSG00000149573",
          "biotype": "protein_coding",
          "start": 118253416,
          "end": 118264536,
          "strand": "-",
          "slug": "mpzl2"
        },
        {
          "symbol": "CD3E",
          "ensemblId": "ENSG00000198851",
          "biotype": "protein_coding",
          "start": 118304701,
          "end": 118316175,
          "strand": "+",
          "slug": "cd3e"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "familial-hypomagnesemia",
        "name": "Šeimyninė hipomagnezemija",
        "diseases": [
          {
            "mondoId": "MONDO:0018100",
            "name": "Šeimyninė pirminė hipomagnezemija",
            "genes": 9,
            "inheritance": null,
            "description": "Paveldimų magnio netekties sutrikimų grupė, kurią sukelia variantai genuose, pavyzdžiui, CLDN16, CLDN19, TRPM6, CNNM2 ir FXYD2; CLDN16 ir CLDN19 formos gali progresuoti iki lėtinės inkstų ligos.",
            "management": "Magnio papildai gali kontroliuoti simptomus, o kai kurioms formoms reikalinga inkstų funkcijos ir akių stebėsena.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/familial-hypomagnesemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "chondrocalcinosis",
        "name": "Calcium deposits in joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/chondrocalcinosis"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "hypomagnesemia",
        "name": "Low blood magnesium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypomagnesemia"
      },
      {
        "slug": "hypokalemia",
        "name": "Low blood potassium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokalemia"
      },
      {
        "slug": "hypocalciuria",
        "name": "Low urine calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocalciuria"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "renal-magnesium-wasting",
        "name": "Renal magnesium wasting",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/renal-magnesium-wasting"
      }
    ],
    "related": [
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp1a1"
      },
      {
        "slug": "cldn16",
        "symbol": "CLDN16",
        "name": "claudin 16",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cldn16"
      },
      {
        "slug": "cldn19",
        "symbol": "CLDN19",
        "name": "claudin 19",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cldn19"
      },
      {
        "slug": "cnnm2",
        "symbol": "CNNM2",
        "name": "cyclin and CBS domain divalent metal cation transport mediator 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cnnm2"
      },
      {
        "slug": "rragd",
        "symbol": "RRAGD",
        "name": "Ras related GTP binding D",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/rragd"
      },
      {
        "slug": "trpm6",
        "symbol": "TRPM6",
        "name": "transient receptor potential cation channel subfamily M member 6",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/trpm6"
      },
      {
        "slug": "trpm7",
        "symbol": "TRPM7",
        "name": "transient receptor potential cation channel subfamily M member 7",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/trpm7"
      },
      {
        "slug": "trpv6",
        "symbol": "TRPV6",
        "name": "transient receptor potential cation channel subfamily V member 6",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/trpv6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}