{
  "url": "https://dantelabs.com/fi/genes/gnat2",
  "gene": {
    "slug": "gnat2",
    "symbol": "GNAT2",
    "name": "G protein subunit alpha transducin 2",
    "hgnc": "HGNC:4394",
    "summary": null,
    "location": "1p13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ACHM4"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000134183",
    "entrezId": 2780,
    "omim": [
      "139340"
    ],
    "uniprot": [
      "P19087"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 109603091,
      "end": 109619616,
      "strand": "-",
      "ensemblTranscript": "ENST00000679935.1",
      "refseqTranscript": "NM_001377295.2",
      "ensemblProtein": "ENSP00000505083.1",
      "refseqProtein": "NP_001364224.1",
      "exons": [
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        }
      ],
      "cds": {
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        "end": 109612870
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 110145889,
      "end": 110155679,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 109111354,
      "end": 110111353,
      "genes": [
        {
          "symbol": "CFAP276",
          "ensemblId": "ENSG00000179902",
          "biotype": "protein_coding",
          "start": 109105951,
          "end": 109113857,
          "strand": "-",
          "slug": "cfap276"
        },
        {
          "symbol": "ELAPOR1",
          "ensemblId": "ENSG00000116299",
          "biotype": "protein_coding",
          "start": 109113175,
          "end": 109206781,
          "strand": "+",
          "slug": "elapor1"
        },
        {
          "symbol": "SARS1",
          "ensemblId": "ENSG00000031698",
          "biotype": "protein_coding",
          "start": 109213844,
          "end": 109239456,
          "strand": "+",
          "slug": "sars1"
        },
        {
          "symbol": "CELSR2",
          "ensemblId": "ENSG00000143126",
          "biotype": "protein_coding",
          "start": 109249539,
          "end": 109275751,
          "strand": "+",
          "slug": "celsr2"
        },
        {
          "symbol": "PSRC1",
          "ensemblId": "ENSG00000134222",
          "biotype": "protein_coding",
          "start": 109279053,
          "end": 109284107,
          "strand": "-",
          "slug": "psrc1"
        },
        {
          "symbol": "MYBPHL",
          "ensemblId": "ENSG00000221986",
          "biotype": "protein_coding",
          "start": 109292363,
          "end": 109307213,
          "strand": "-",
          "slug": "mybphl"
        },
        {
          "symbol": "SORT1",
          "ensemblId": "ENSG00000134243",
          "biotype": "protein_coding",
          "start": 109309568,
          "end": 109397967,
          "strand": "-",
          "slug": "sort1"
        },
        {
          "symbol": "PSMA5",
          "ensemblId": "ENSG00000143106",
          "biotype": "protein_coding",
          "start": 109399042,
          "end": 109426471,
          "strand": "-",
          "slug": "psma5"
        },
        {
          "symbol": "SYPL2",
          "ensemblId": "ENSG00000143028",
          "biotype": "protein_coding",
          "start": 109466529,
          "end": 109482142,
          "strand": "+",
          "slug": "sypl2"
        },
        {
          "symbol": "ATXN7L2",
          "ensemblId": "ENSG00000162650",
          "biotype": "protein_coding",
          "start": 109483479,
          "end": 109492812,
          "strand": "+",
          "slug": "atxn7l2"
        },
        {
          "symbol": "CYB561D1",
          "ensemblId": "ENSG00000174151",
          "biotype": "protein_coding",
          "start": 109494052,
          "end": 109502932,
          "strand": "+",
          "slug": "cyb561d1"
        },
        {
          "symbol": "AMIGO1",
          "ensemblId": "ENSG00000181754",
          "biotype": "protein_coding",
          "start": 109503464,
          "end": 109509758,
          "strand": "-",
          "slug": "amigo1"
        },
        {
          "symbol": "GPR61",
          "ensemblId": "ENSG00000156097",
          "biotype": "protein_coding",
          "start": 109539872,
          "end": 109548406,
          "strand": "+",
          "slug": "gpr61"
        },
        {
          "symbol": "GNAI3",
          "ensemblId": "ENSG00000065135",
          "biotype": "protein_coding",
          "start": 109548582,
          "end": 109600195,
          "strand": "+",
          "slug": "gnai3"
        },
        {
          "symbol": "AMPD2",
          "ensemblId": "ENSG00000116337",
          "biotype": "protein_coding",
          "start": 109616104,
          "end": 109632055,
          "strand": "+",
          "slug": "ampd2"
        },
        {
          "symbol": "GSTM4",
          "ensemblId": "ENSG00000168765",
          "biotype": "protein_coding",
          "start": 109656069,
          "end": 109665800,
          "strand": "+",
          "slug": "gstm4"
        },
        {
          "symbol": "GSTM2",
          "ensemblId": "ENSG00000213366",
          "biotype": "protein_coding",
          "start": 109667348,
          "end": 109709552,
          "strand": "+",
          "slug": "gstm2"
        },
        {
          "symbol": "GSTM1",
          "ensemblId": "ENSG00000134184",
          "biotype": "protein_coding",
          "start": 109687309,
          "end": 109709552,
          "strand": "+",
          "slug": "gstm1"
        },
        {
          "symbol": "GSTM5",
          "ensemblId": "ENSG00000134201",
          "biotype": "protein_coding",
          "start": 109711746,
          "end": 109776019,
          "strand": "+",
          "slug": "gstm5"
        },
        {
          "symbol": "GSTM3",
          "ensemblId": "ENSG00000134202",
          "biotype": "protein_coding",
          "start": 109731688,
          "end": 109741038,
          "strand": "-",
          "slug": "gstm3"
        },
        {
          "symbol": "EPS8L3",
          "ensemblId": "ENSG00000198758",
          "biotype": "protein_coding",
          "start": 109750078,
          "end": 109764062,
          "strand": "-",
          "slug": "eps8l3"
        },
        {
          "symbol": "CSF1",
          "ensemblId": "ENSG00000184371",
          "biotype": "protein_coding",
          "start": 109910242,
          "end": 109930993,
          "strand": "+",
          "slug": "csf1"
        },
        {
          "symbol": "AHCYL1",
          "ensemblId": "ENSG00000168710",
          "biotype": "protein_coding",
          "start": 109984721,
          "end": 110023742,
          "strand": "+",
          "slug": "ahcyl1"
        },
        {
          "symbol": "STRIP1",
          "ensemblId": "ENSG00000143093",
          "biotype": "protein_coding",
          "start": 110031577,
          "end": 110074641,
          "strand": "+",
          "slug": "strip1"
        },
        {
          "symbol": "ALX3",
          "ensemblId": "ENSG00000156150",
          "biotype": "protein_coding",
          "start": 110059870,
          "end": 110070677,
          "strand": "-",
          "slug": "alx3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "achromatopsia",
        "name": "Akromatopsia",
        "diseases": [
          {
            "mondoId": "MONDO:0800392",
            "name": "GNAT2-geeniin liittyvä retinopatia",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Tappien toimintahäiriö, joka johtuu GNAT2-geenin molempien kopioiden muutoksista.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0018852",
            "name": "Akromatopsia",
            "genes": 7,
            "inheritance": null,
            "description": "Akromatopsia (ACHM) on harvinainen autosomaalisesti resessiivisesti periytyvä verkkokalvon sairaus. Sille ovat ominaisia värisokeus, nystagmus, valoarkuus ja huomattava näöntarkkuuden heikkeneminen, jotka johtuvat tappisolujen toiminnan puuttumisesta tai heikentymisestä.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/achromatopsia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-macular-morphology",
        "name": "Abnormal macular morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-macular-morphology"
      },
      {
        "slug": "abnormal-pupillary-light-reflex",
        "name": "Abnormal pupillary light reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pupillary-light-reflex"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "absent-foveal-reflex",
        "name": "Absent foveal reflex",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-foveal-reflex"
      },
      {
        "slug": "achromatopsia",
        "name": "Achromatopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/achromatopsia"
      },
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "color-vision-test-abnormality",
        "name": "Color vision test abnormality",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/color-vision-test-abnormality"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "eccentric-visual-fixation",
        "name": "Eccentric visual fixation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eccentric-visual-fixation"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "hypermetropia",
        "name": "Farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypermetropia"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "inner-retinal-layer-loss-on-macular-oct",
        "name": "Inner retinal layer loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inner-retinal-layer-loss-on-macular-oct"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "pendular-nystagmus",
        "name": "Pendular nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pendular-nystagmus"
      },
      {
        "slug": "retinal-pigment-epithelial-atrophy",
        "name": "Retinal pigment epithelial atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy"
      },
      {
        "slug": "retinal-pigment-epithelial-mottling",
        "name": "Retinal pigment epithelial mottling",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling"
      },
      {
        "slug": "monochromacy",
        "name": "Total colorblindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/monochromacy"
      },
      {
        "slug": "undetectable-light-adapted-electroretinogram",
        "name": "Undetectable light-adapted electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/undetectable-light-adapted-electroretinogram"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "atf6",
        "symbol": "ATF6",
        "name": "activating transcription factor 6",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/atf6"
      },
      {
        "slug": "cnga3",
        "symbol": "CNGA3",
        "name": "cyclic nucleotide gated channel subunit alpha 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cnga3"
      },
      {
        "slug": "cngb3",
        "symbol": "CNGB3",
        "name": "cyclic nucleotide gated channel subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cngb3"
      },
      {
        "slug": "opn1lw",
        "symbol": "OPN1LW",
        "name": "opsin 1, long wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/opn1lw"
      },
      {
        "slug": "opn1mw",
        "symbol": "OPN1MW",
        "name": "opsin 1, medium wave sensitive",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/opn1mw"
      },
      {
        "slug": "pde6h",
        "symbol": "PDE6H",
        "name": "phosphodiesterase 6H",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/pde6h"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}