{
  "url": "https://dantelabs.com/pl/genes/nt5c3a",
  "gene": {
    "slug": "nt5c3a",
    "symbol": "NT5C3A",
    "name": "5'-nucleotidase, cytosolic IIIA",
    "hgnc": "HGNC:17820",
    "summary": null,
    "location": "7p14.3",
    "locusType": "gene with protein product",
    "aliases": [
      "UMPH1",
      "PSN1",
      "PN-I",
      "UMPH",
      "P5'N-1",
      "cN-III",
      "p36",
      "POMP",
      "hUMP1"
    ],
    "previousSymbols": [
      "NT5C3"
    ],
    "ensemblId": "ENSG00000122643",
    "entrezId": 51251,
    "omim": [
      "606224"
    ],
    "uniprot": [
      "Q9H0P0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 33014130,
      "end": 33062776,
      "strand": "-",
      "ensemblTranscript": "ENST00000610140.7",
      "refseqTranscript": "NM_001002010.5",
      "ensemblProtein": "ENSP00000476480.2",
      "refseqProtein": "NP_001002010.2",
      "exons": [
        {
          "start": 33014130,
          "end": 33014831
        },
        {
          "start": 33015670,
          "end": 33015870
        },
        {
          "start": 33017439,
          "end": 33017601
        },
        {
          "start": 33019635,
          "end": 33019724
        },
        {
          "start": 33021272,
          "end": 33021357
        },
        {
          "start": 33022053,
          "end": 33022099
        },
        {
          "start": 33024039,
          "end": 33024108
        },
        {
          "start": 33026817,
          "end": 33026915
        },
        {
          "start": 33062568,
          "end": 33062776
        }
      ],
      "cds": {
        "start": 33014730,
        "end": 33062705
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 33053742,
      "end": 33102409,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 32538453,
      "end": 33538452,
      "genes": [
        {
          "symbol": "AVL9",
          "ensemblId": "ENSG00000105778",
          "biotype": "protein_coding",
          "start": 32495426,
          "end": 32588726,
          "strand": "+",
          "slug": "avl9"
        },
        {
          "symbol": "KBTBD2",
          "ensemblId": "ENSG00000170852",
          "biotype": "protein_coding",
          "start": 32861369,
          "end": 32894131,
          "strand": "-",
          "slug": "kbtbd2"
        },
        {
          "symbol": "FKBP9",
          "ensemblId": "ENSG00000122642",
          "biotype": "protein_coding",
          "start": 32957404,
          "end": 33006931,
          "strand": "+",
          "slug": "fkbp9"
        },
        {
          "symbol": "RP9",
          "ensemblId": "ENSG00000164610",
          "biotype": "protein_coding",
          "start": 33094797,
          "end": 33109601,
          "strand": "-",
          "slug": "rp9"
        },
        {
          "symbol": "BBS9",
          "ensemblId": "ENSG00000122507",
          "biotype": "protein_coding",
          "start": 33109557,
          "end": 33877180,
          "strand": "+",
          "slug": "bbs9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders",
        "name": "Niedobór kinazy pirogronianowej i inne zaburzenia enzymów krwinek czerwonych",
        "diseases": [
          {
            "mondoId": "MONDO:0009946",
            "name": "Niedobór 5'-nukleotydazy pirymidynowej",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Recesywna postać łagodnej do umiarkowanej niedokrwistości hemolitycznej spowodowana zmianami w genie NT5C3A.",
            "management": "Znajomość przyczyny pomaga w monitorowaniu niedokrwistości, kamicy żółciowej i przeciążenia żelazem.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/pyruvate-kinase-deficiency-and-red-cell-enzyme-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hemoglobinuria",
        "name": "Hemoglobin in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoglobinuria"
      },
      {
        "slug": "hemolytic-anemia",
        "name": "Hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hemolytic-anemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "reticulocytosis",
        "name": "Increased immature red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reticulocytosis"
      },
      {
        "slug": "reduced-circulating-pyrimidine-5-prime-nucleotidase-activity",
        "name": "Reduced circulating pyrimidine 5-prime-nucleotidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-circulating-pyrimidine-5-prime-nucleotidase-activity"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}