{
  "url": "https://dantelabs.com/da/genes/atp2a2",
  "gene": {
    "slug": "atp2a2",
    "symbol": "ATP2A2",
    "name": "ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2",
    "hgnc": "HGNC:812",
    "summary": null,
    "location": "12q24.11",
    "locusType": "gene with protein product",
    "aliases": [
      "SERCA2"
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    "previousSymbols": [
      "ATP2B",
      "DAR"
    ],
    "ensemblId": "ENSG00000174437",
    "entrezId": 488,
    "omim": [
      "108740"
    ],
    "uniprot": [
      "P16615"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 110281247,
      "end": 110351093,
      "strand": "+",
      "ensemblTranscript": "ENST00000539276.7",
      "refseqTranscript": "NM_170665.4",
      "ensemblProtein": "ENSP00000440045.2",
      "refseqProtein": "NP_733765.1",
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      "cds": {
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        "end": 110346470
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 110718561,
      "end": 110788898,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 110816169,
      "genes": [
        {
          "symbol": "TRPV4",
          "ensemblId": "ENSG00000111199",
          "biotype": "protein_coding",
          "start": 109783087,
          "end": 109833542,
          "strand": "-",
          "slug": "trpv4"
        },
        {
          "symbol": "GLTP",
          "ensemblId": "ENSG00000139433",
          "biotype": "protein_coding",
          "start": 109850943,
          "end": 109880549,
          "strand": "-",
          "slug": "gltp"
        },
        {
          "symbol": "TCHP",
          "ensemblId": "ENSG00000139437",
          "biotype": "protein_coding",
          "start": 109900264,
          "end": 109983841,
          "strand": "+",
          "slug": "tchp"
        },
        {
          "symbol": "GIT2",
          "ensemblId": "ENSG00000139436",
          "biotype": "protein_coding",
          "start": 109929792,
          "end": 109996389,
          "strand": "-",
          "slug": "git2"
        },
        {
          "symbol": "ANKRD13A",
          "ensemblId": "ENSG00000076513",
          "biotype": "protein_coding",
          "start": 109999186,
          "end": 110039763,
          "strand": "+",
          "slug": "ankrd13a"
        },
        {
          "symbol": "C12orf76",
          "ensemblId": "ENSG00000174456",
          "biotype": "protein_coding",
          "start": 110020353,
          "end": 110073636,
          "strand": "-",
          "slug": "c12orf76"
        },
        {
          "symbol": "IFT81",
          "ensemblId": "ENSG00000122970",
          "biotype": "protein_coding",
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          "end": 110218795,
          "strand": "+",
          "slug": "ift81"
        },
        {
          "symbol": "ANAPC7",
          "ensemblId": "ENSG00000196510",
          "biotype": "protein_coding",
          "start": 110372506,
          "end": 110403740,
          "strand": "-",
          "slug": "anapc7"
        },
        {
          "symbol": "ARPC3",
          "ensemblId": "ENSG00000111229",
          "biotype": "protein_coding",
          "start": 110434436,
          "end": 110450422,
          "strand": "-",
          "slug": "arpc3"
        },
        {
          "symbol": "GPN3",
          "ensemblId": "ENSG00000111231",
          "biotype": "protein_coding",
          "start": 110452473,
          "end": 110469268,
          "strand": "-",
          "slug": "gpn3"
        },
        {
          "symbol": "FAM216A",
          "ensemblId": "ENSG00000204856",
          "biotype": "protein_coding",
          "start": 110468405,
          "end": 110492196,
          "strand": "+",
          "slug": "fam216a"
        },
        {
          "symbol": "VPS29",
          "ensemblId": "ENSG00000111237",
          "biotype": "protein_coding",
          "start": 110469903,
          "end": 110502132,
          "strand": "-",
          "slug": "vps29"
        },
        {
          "symbol": "RAD9B",
          "ensemblId": "ENSG00000151164",
          "biotype": "protein_coding",
          "start": 110501479,
          "end": 110533556,
          "strand": "+",
          "slug": "rad9b"
        },
        {
          "symbol": "PPTC7",
          "ensemblId": "ENSG00000196850",
          "biotype": "protein_coding",
          "start": 110533245,
          "end": 110583383,
          "strand": "-",
          "slug": "pptc7"
        },
        {
          "symbol": "TCTN1",
          "ensemblId": "ENSG00000204852",
          "biotype": "protein_coding",
          "start": 110614027,
          "end": 110663587,
          "strand": "+",
          "slug": "tctn1"
        },
        {
          "symbol": "HVCN1",
          "ensemblId": "ENSG00000122986",
          "biotype": "protein_coding",
          "start": 110627836,
          "end": 110704950,
          "strand": "-",
          "slug": "hvcn1"
        },
        {
          "symbol": "PPP1CC",
          "ensemblId": "ENSG00000186298",
          "biotype": "protein_coding",
          "start": 110708366,
          "end": 110742939,
          "strand": "-",
          "slug": "ppp1cc"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "darier-and-hailey-hailey-disease",
        "name": "Darier- og Hailey-Hailey-sygdom",
        "diseases": [
          {
            "mondoId": "MONDO:0007417",
            "name": "Darier-sygdom",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "En ATP2A2-lidelse, der giver fedtede, skorpede papler på brystet, ryggen og i hovedbunden samt forandringer i neglene.",
            "management": "Undgåelse af varme, sollys og gnidning samt tidlig behandling af infektioner reducerer udbrud. Sygdommen er også blevet forbundet med humørforstyrrelser, hvilket er nyttigt for lægerne at vide.",
            "evidence": {
              "gencc": [
                "Illumina",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0007048",
            "name": "Acrokeratosis verruciformis",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Flade, vortelignende papler på hånd- og fodryggen, beslægtet med Darier-sygdom.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/da/conditions/darier-and-hailey-hailey-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "anonychia",
        "name": "Absent nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anonychia"
      },
      {
        "slug": "acantholysis",
        "name": "Acantholysis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/acantholysis"
      },
      {
        "slug": "acrokeratosis",
        "name": "Acrokeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/acrokeratosis"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "acute-rhabdomyolysis",
        "name": "Acute rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acute-rhabdomyolysis"
      },
      {
        "slug": "anal-mucosal-leukoplakia",
        "name": "Anal mucosal leukoplakia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anal-mucosal-leukoplakia"
      },
      {
        "slug": "bipolar-affective-disorder",
        "name": "Bipolar disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bipolar-affective-disorder"
      },
      {
        "slug": "fragile-nails",
        "name": "Brittle nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fragile-nails"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "cobblestone-like-hyperkeratosis",
        "name": "Cobblestone-like hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cobblestone-like-hyperkeratosis"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "enlargement-of-parotid-gland",
        "name": "Enlargement of parotid gland",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/enlargement-of-parotid-gland"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "exercise-induced-rhabdomyolysis",
        "name": "Exercise-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "macule",
        "name": "Flat, discolored area of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macule"
      },
      {
        "slug": "ridged-nail",
        "name": "Grooved nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ridged-nail"
      },
      {
        "slug": "hypergranulosis",
        "name": "Hypergranulosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypergranulosis"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hyperkeratotic-papule",
        "name": "Hyperkeratotic papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperkeratotic-papule"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "increased-muscle-glycogen-content",
        "name": "Increased muscle glycogen content",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-muscle-glycogen-content"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "longitudinal-erythronychia",
        "name": "Longitudinal erythronychia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/longitudinal-erythronychia"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "muscle-hypertrophy-of-the-lower-extremities",
        "name": "Muscle hypertrophy of the lower extremities",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-hypertrophy-of-the-lower-extremities"
      },
      {
        "slug": "myoglobinuria",
        "name": "Myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myoglobinuria"
      },
      {
        "slug": "palmar-pits",
        "name": "Palmar pits",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palmar-pits"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "plantar-pits",
        "name": "Plantar pits",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/plantar-pits"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "punctate-keratitis",
        "name": "Punctate keratitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/punctate-keratitis"
      },
      {
        "slug": "punctate-palmoplantar-hyperkeratosis",
        "name": "Punctate palmoplantar hyperkeratosis",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/punctate-palmoplantar-hyperkeratosis"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "schizophrenia",
        "name": "Schizophrenia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/schizophrenia"
      },
      {
        "slug": "skin-plaque",
        "name": "Skin plaque",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-plaque"
      },
      {
        "slug": "skin-vesicle",
        "name": "Skin vesicle",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-vesicle"
      },
      {
        "slug": "skin-colored-papule",
        "name": "Skin-colored papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-colored-papule"
      },
      {
        "slug": "subungual-hyperkeratotic-fragments",
        "name": "Subungual hyperkeratotic fragments",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subungual-hyperkeratotic-fragments"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "verrucous-papule",
        "name": "Verrucous papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/verrucous-papule"
      },
      {
        "slug": "viral-infection-induced-rhabdomyolysis",
        "name": "Viral infection-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/viral-infection-induced-rhabdomyolysis"
      },
      {
        "slug": "verrucae",
        "name": "Warts",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/verrucae"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "leukonychia",
        "name": "White discoloration of nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leukonychia"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}