{
  "url": "https://dantelabs.com/lt/genes/srd5a2",
  "gene": {
    "slug": "srd5a2",
    "symbol": "SRD5A2",
    "name": "steroid 5 alpha-reductase 2",
    "hgnc": "HGNC:11285",
    "summary": null,
    "location": "2p23.1",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000277893",
    "entrezId": 6716,
    "omim": [
      "607306"
    ],
    "uniprot": [
      "P31213"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 31522480,
      "end": 31580938,
      "strand": "-",
      "ensemblTranscript": "ENST00000622030.2",
      "refseqTranscript": "NM_000348.4",
      "ensemblProtein": "ENSP00000477587.1",
      "refseqProtein": "NP_000339.2",
      "exons": [
        {
          "start": 31522480,
          "end": 31526262
        },
        {
          "start": 31529307,
          "end": 31529457
        },
        {
          "start": 31531371,
          "end": 31531472
        },
        {
          "start": 31533603,
          "end": 31533766
        },
        {
          "start": 31580620,
          "end": 31580938
        }
      ],
      "cds": {
        "start": 31526196,
        "end": 31580900
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 31747550,
      "end": 31806136,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31051709,
      "end": 32051708,
      "genes": [
        {
          "symbol": "GALNT14",
          "ensemblId": "ENSG00000158089",
          "biotype": "protein_coding",
          "start": 30898696,
          "end": 31155202,
          "strand": "-",
          "slug": "galnt14"
        },
        {
          "symbol": "CAPN14",
          "ensemblId": "ENSG00000214711",
          "biotype": "protein_coding",
          "start": 31173056,
          "end": 31234011,
          "strand": "-",
          "slug": "capn14"
        },
        {
          "symbol": "EHD3",
          "ensemblId": "ENSG00000013016",
          "biotype": "protein_coding",
          "start": 31233943,
          "end": 31275384,
          "strand": "+",
          "slug": "ehd3"
        },
        {
          "symbol": "XDH",
          "ensemblId": "ENSG00000158125",
          "biotype": "protein_coding",
          "start": 31334320,
          "end": 31414756,
          "strand": "-",
          "slug": "xdh"
        },
        {
          "symbol": "MEMO1",
          "ensemblId": "ENSG00000162959",
          "biotype": "protein_coding",
          "start": 31865060,
          "end": 32011230,
          "strand": "-",
          "slug": "memo1"
        },
        {
          "symbol": "DPY30",
          "ensemblId": "ENSG00000162961",
          "biotype": "protein_coding",
          "start": 31867809,
          "end": 32039832,
          "strand": "-",
          "slug": "dpy30"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "46-xy-differences-of-sex-development",
        "name": "46,XY Disorders of Sex Development ir gonadų disgenezė",
        "diseases": [
          {
            "mondoId": "MONDO:0020040",
            "name": "46,XY lytinio vystymosi sutrikimai",
            "genes": 14,
            "inheritance": null,
            "description": "Būklės žmonėms, turintiems XY chromosomas, kai gonadų ar lytinių organų vystymasis netipiškas. Jas sukelia variantai tokiuose genuose kaip SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 ir LHCGR.",
            "management": "Diagnozė padeda parinkti hormoninį gydymą, konsultuotis dėl vaisingumo, o kai disgenetinėse gonadose yra Y chromosomos medžiagos, įvertinti gonadinių navikų riziką.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/46-xy-differences-of-sex-development"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-endocrine-system",
        "name": "Abnormality of the endocrine system",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ambiguous-genitalia-male",
        "name": "Ambiguous genitalia in males",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ambiguous-genitalia-male"
      },
      {
        "slug": "bifid-scrotum",
        "name": "Cleft of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bifid-scrotum"
      },
      {
        "slug": "decreased-circulating-dihydrotestosterone-concentration",
        "name": "Decreased circulating dihydrotestosterone concentration",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-dihydrotestosterone-concentration"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "perineal-hypospadias",
        "name": "Perineal hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/perineal-hypospadias"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "small-scrotum",
        "name": "Smaller than typical growth of scrotum",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/small-scrotum"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urogenital-sinus-anomaly",
        "name": "Urogenital sinus anomaly",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/urogenital-sinus-anomaly"
      }
    ],
    "related": [
      {
        "slug": "ar",
        "symbol": "AR",
        "name": "androgen receptor",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ar"
      },
      {
        "slug": "atrx",
        "symbol": "ATRX",
        "name": "ATRX chromatin remodeler",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atrx"
      },
      {
        "slug": "cyp11a1",
        "symbol": "CYP11A1",
        "name": "cytochrome P450 family 11 subfamily A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cyp11a1"
      },
      {
        "slug": "dhh",
        "symbol": "DHH",
        "name": "desert hedgehog signaling molecule",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dhh"
      },
      {
        "slug": "dmrt1",
        "symbol": "DMRT1",
        "name": "doublesex and mab-3 related transcription factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/dmrt1"
      },
      {
        "slug": "gata4",
        "symbol": "GATA4",
        "name": "GATA binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/gata4"
      },
      {
        "slug": "hhat",
        "symbol": "HHAT",
        "name": "hedgehog acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/hhat"
      },
      {
        "slug": "hsd17b3",
        "symbol": "HSD17B3",
        "name": "hydroxysteroid 17-beta dehydrogenase 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/hsd17b3"
      },
      {
        "slug": "map3k1",
        "symbol": "MAP3K1",
        "name": "mitogen-activated protein kinase kinase kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/map3k1"
      },
      {
        "slug": "nr5a1",
        "symbol": "NR5A1",
        "name": "nuclear receptor subfamily 5 group A member 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/nr5a1"
      },
      {
        "slug": "tspyl1",
        "symbol": "TSPYL1",
        "name": "TSPY like 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/tspyl1"
      },
      {
        "slug": "wt1",
        "symbol": "WT1",
        "name": "WT1 transcription factor",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/wt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}