{
  "url": "https://dantelabs.com/ko/genes/fam20a",
  "gene": {
    "slug": "fam20a",
    "symbol": "FAM20A",
    "name": "FAM20A golgi associated secretory pathway pseudokinase",
    "hgnc": "HGNC:23015",
    "summary": null,
    "location": "17q24.2",
    "locusType": "gene with protein product",
    "aliases": [
      "DKFZp434F2322"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108950",
    "entrezId": 54757,
    "omim": [
      "611062"
    ],
    "uniprot": [
      "Q96MK3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 68535116,
      "end": 68601367,
      "strand": "-",
      "ensemblTranscript": "ENST00000592554.2",
      "refseqTranscript": "NM_017565.4",
      "ensemblProtein": "ENSP00000468308.1",
      "refseqProtein": "NP_060035.2",
      "exons": [
        {
          "start": 68535116,
          "end": 68537741
        },
        {
          "start": 68539337,
          "end": 68539396
        },
        {
          "start": 68539885,
          "end": 68539966
        },
        {
          "start": 68540849,
          "end": 68540958
        },
        {
          "start": 68541985,
          "end": 68542165
        },
        {
          "start": 68542694,
          "end": 68542809
        },
        {
          "start": 68543629,
          "end": 68543721
        },
        {
          "start": 68551873,
          "end": 68551951
        },
        {
          "start": 68554777,
          "end": 68554827
        },
        {
          "start": 68555559,
          "end": 68555743
        },
        {
          "start": 68600263,
          "end": 68601367
        }
      ],
      "cds": {
        "start": 68537477,
        "end": 68600666
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 66531254,
      "end": 66597530,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68068242,
      "end": 69068241,
      "genes": [
        {
          "symbol": "AMZ2",
          "ensemblId": "ENSG00000196704",
          "biotype": "protein_coding",
          "start": 68205431,
          "end": 68258828,
          "strand": "+",
          "slug": "amz2"
        },
        {
          "symbol": "ARSG",
          "ensemblId": "ENSG00000141337",
          "biotype": "protein_coding",
          "start": 68259170,
          "end": 68422731,
          "strand": "+",
          "slug": "arsg"
        },
        {
          "symbol": "SLC16A6",
          "ensemblId": "ENSG00000108932",
          "biotype": "protein_coding",
          "start": 68267026,
          "end": 68291267,
          "strand": "-",
          "slug": "slc16a6"
        },
        {
          "symbol": "WIPI1",
          "ensemblId": "ENSG00000070540",
          "biotype": "protein_coding",
          "start": 68420948,
          "end": 68457563,
          "strand": "-",
          "slug": "wipi1"
        },
        {
          "symbol": "PRKAR1A",
          "ensemblId": "ENSG00000108946",
          "biotype": "protein_coding",
          "start": 68511740,
          "end": 68551319,
          "strand": "+",
          "slug": "prkar1a"
        },
        {
          "symbol": "ABCA8",
          "ensemblId": "ENSG00000141338",
          "biotype": "protein_coding",
          "start": 68866052,
          "end": 68955470,
          "strand": "-",
          "slug": "abca8"
        },
        {
          "symbol": "ABCA9",
          "ensemblId": "ENSG00000154258",
          "biotype": "protein_coding",
          "start": 68974488,
          "end": 69061087,
          "strand": "-",
          "slug": "abca9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "amelogenesis-imperfecta",
        "name": "법랑질형성부전증",
        "diseases": [
          {
            "mondoId": "MONDO:0019507",
            "name": "법랑질형성부전증",
            "genes": 17,
            "inheritance": "autosomal-dominant",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/amelogenesis-imperfecta"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-calcium-phosphate-regulating-hormone-concentration",
        "name": "Abnormal circulating calcium-phosphate regulating hormone concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-calcium-phosphate-regulating-hormone-concentration"
      },
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "abnormality-of-dental-color",
        "name": "Abnormality of dental color",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-dental-color"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "anterior-open-bite-malocclusion",
        "name": "Absence of overlap of anterior upper and lower teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-open-bite-malocclusion"
      },
      {
        "slug": "amelogenesis-imperfecta",
        "name": "Amelogenesis imperfecta",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amelogenesis-imperfecta"
      },
      {
        "slug": "curved-dental-root",
        "name": "Curved dental root",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/curved-dental-root"
      },
      {
        "slug": "dagger-shaped-pulp-calcifications",
        "name": "Dagger-shaped pulp calcifications",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/dagger-shaped-pulp-calcifications"
      },
      {
        "slug": "tooth-agenesis",
        "name": "Decreased number of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tooth-agenesis"
      },
      {
        "slug": "decreased-serum-creatinine",
        "name": "Decreased serum creatinine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-serum-creatinine"
      },
      {
        "slug": "delayed-eruption-of-permanent-teeth",
        "name": "Delayed eruption of permanent teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-permanent-teeth"
      },
      {
        "slug": "delayed-eruption-of-teeth",
        "name": "Delayed eruption of teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth"
      },
      {
        "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": "enuresis",
        "name": "Enuresis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enuresis"
      },
      {
        "slug": "supernumerary-tooth",
        "name": "Extra teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/supernumerary-tooth"
      },
      {
        "slug": "overgrowth",
        "name": "General overgrowth",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/overgrowth"
      },
      {
        "slug": "gingival-fibromatosis",
        "name": "Gingival fibromatosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gingival-fibromatosis"
      },
      {
        "slug": "periodontitis",
        "name": "Gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periodontitis"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "hypocitraturia",
        "name": "Hypocitraturia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocitraturia"
      },
      {
        "slug": "hypophosphaturia",
        "name": "Hypophosphaturia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypophosphaturia"
      },
      {
        "slug": "impacted-tooth",
        "name": "Impacted tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impacted-tooth"
      },
      {
        "slug": "impaired-renal-concentrating-ability",
        "name": "Impaired renal concentrating ability",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-renal-concentrating-ability"
      },
      {
        "slug": "nephrocalcinosis",
        "name": "Increased calcium level in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephrocalcinosis"
      },
      {
        "slug": "increased-circulating-osteocalcin-level",
        "name": "Increased circulating osteocalcin level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-osteocalcin-level"
      },
      {
        "slug": "polyuria",
        "name": "Increased urine output",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polyuria"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "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": "pulp-calcification",
        "name": "Pulp stones",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulp-calcification"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "yellow-brown-discoloration-of-the-teeth",
        "name": "Yellow-brown discoloration of the teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/yellow-brown-discoloration-of-the-teeth"
      }
    ],
    "related": [
      {
        "slug": "acp4",
        "symbol": "ACP4",
        "name": "acid phosphatase 4",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/acp4"
      },
      {
        "slug": "ambn",
        "symbol": "AMBN",
        "name": "ameloblastin",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/ambn"
      },
      {
        "slug": "amelx",
        "symbol": "AMELX",
        "name": "amelogenin X-linked",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/amelx"
      },
      {
        "slug": "dlx3",
        "symbol": "DLX3",
        "name": "distal-less homeobox 3",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/dlx3"
      },
      {
        "slug": "enam",
        "symbol": "ENAM",
        "name": "enamelin",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/enam"
      },
      {
        "slug": "gpr68",
        "symbol": "GPR68",
        "name": "G protein-coupled receptor 68",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/gpr68"
      },
      {
        "slug": "itgb6",
        "symbol": "ITGB6",
        "name": "integrin subunit beta 6",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/itgb6"
      },
      {
        "slug": "klk4",
        "symbol": "KLK4",
        "name": "kallikrein related peptidase 4",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/klk4"
      },
      {
        "slug": "lamb3",
        "symbol": "LAMB3",
        "name": "laminin subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/lamb3"
      },
      {
        "slug": "mmp20",
        "symbol": "MMP20",
        "name": "matrix metallopeptidase 20",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/mmp20"
      },
      {
        "slug": "odaph",
        "symbol": "ODAPH",
        "name": "odontogenesis associated phosphoprotein",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/odaph"
      },
      {
        "slug": "relt",
        "symbol": "RELT",
        "name": "RELT TNF receptor",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/relt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}