{
  "url": "https://dantelabs.com/pt/genes/cyp2b6",
  "gene": {
    "slug": "cyp2b6",
    "symbol": "CYP2B6",
    "name": "cytochrome P450 family 2 subfamily B member 6",
    "hgnc": "HGNC:2615",
    "summary": null,
    "location": "19q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CPB6",
      "CYPIIB6"
    ],
    "previousSymbols": [
      "CYP2B"
    ],
    "ensemblId": "ENSG00000197408",
    "entrezId": 1555,
    "omim": [
      "123930"
    ],
    "uniprot": [
      "P20813"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 40991282,
      "end": 41018398,
      "strand": "+",
      "ensemblTranscript": "ENST00000324071.10",
      "refseqTranscript": "NM_000767.5",
      "ensemblProtein": "ENSP00000324648.2",
      "refseqProtein": "NP_000758.1",
      "exons": [
        {
          "start": 40991282,
          "end": 40991476
        },
        {
          "start": 41004001,
          "end": 41004163
        },
        {
          "start": 41004297,
          "end": 41004446
        },
        {
          "start": 41006905,
          "end": 41007065
        },
        {
          "start": 41009219,
          "end": 41009395
        },
        {
          "start": 41009994,
          "end": 41010135
        },
        {
          "start": 41012298,
          "end": 41012485
        },
        {
          "start": 41012674,
          "end": 41012815
        },
        {
          "start": 41016646,
          "end": 41018398
        }
      ],
      "cds": {
        "start": 40991306,
        "end": 41016827
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 41497204,
      "end": 41524303,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 40504840,
      "end": 41504839,
      "genes": [
        {
          "symbol": "SPTBN4",
          "ensemblId": "ENSG00000160460",
          "biotype": "protein_coding",
          "start": 40466241,
          "end": 40576464,
          "strand": "+",
          "slug": "sptbn4"
        },
        {
          "symbol": "SHKBP1",
          "ensemblId": "ENSG00000160410",
          "biotype": "protein_coding",
          "start": 40576844,
          "end": 40591399,
          "strand": "+",
          "slug": "shkbp1"
        },
        {
          "symbol": "LTBP4",
          "ensemblId": "ENSG00000090006",
          "biotype": "protein_coding",
          "start": 40592883,
          "end": 40629821,
          "strand": "+",
          "slug": "ltbp4"
        },
        {
          "symbol": "NUMBL",
          "ensemblId": "ENSG00000105245",
          "biotype": "protein_coding",
          "start": 40665905,
          "end": 40690972,
          "strand": "-",
          "slug": "numbl"
        },
        {
          "symbol": "COQ8B",
          "ensemblId": "ENSG00000123815",
          "biotype": "protein_coding",
          "start": 40691514,
          "end": 40725784,
          "strand": "-",
          "slug": "coq8b"
        },
        {
          "symbol": "ITPKC",
          "ensemblId": "ENSG00000086544",
          "biotype": "protein_coding",
          "start": 40716964,
          "end": 40740860,
          "strand": "+",
          "slug": "itpkc"
        },
        {
          "symbol": "ACTMAP",
          "ensemblId": "ENSG00000188493",
          "biotype": "protein_coding",
          "start": 40740856,
          "end": 40751813,
          "strand": "-",
          "slug": "actmap"
        },
        {
          "symbol": "SNRPA",
          "ensemblId": "ENSG00000077312",
          "biotype": "protein_coding",
          "start": 40750585,
          "end": 40765393,
          "strand": "+",
          "slug": "snrpa"
        },
        {
          "symbol": "MIA",
          "ensemblId": "ENSG00000261857",
          "biotype": "protein_coding",
          "start": 40768997,
          "end": 40777490,
          "strand": "+",
          "slug": "mia"
        },
        {
          "symbol": "MIA-RAB4B",
          "ensemblId": "ENSG00000268975",
          "biotype": "protein_coding",
          "start": 40771648,
          "end": 40796943,
          "strand": "+",
          "slug": "mia-rab4b"
        },
        {
          "symbol": "RAB4B",
          "ensemblId": "ENSG00000167578",
          "biotype": "protein_coding",
          "start": 40778191,
          "end": 40798690,
          "strand": "+",
          "slug": "rab4b"
        },
        {
          "symbol": "RAB4B-EGLN2",
          "ensemblId": "ENSG00000171570",
          "biotype": "protein_coding",
          "start": 40778242,
          "end": 40808418,
          "strand": "+",
          "slug": "rab4b-egln2"
        },
        {
          "symbol": "EGLN2",
          "ensemblId": "ENSG00000269858",
          "biotype": "protein_coding",
          "start": 40798996,
          "end": 40857708,
          "strand": "+",
          "slug": "egln2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000268797",
          "biotype": "protein_coding",
          "start": 40801297,
          "end": 40898282,
          "strand": "+"
        },
        {
          "symbol": "CYP2A6",
          "ensemblId": "ENSG00000255974",
          "biotype": "protein_coding",
          "start": 40841915,
          "end": 40850493,
          "strand": "-",
          "slug": "cyp2a6"
        },
        {
          "symbol": "CYP2A7",
          "ensemblId": "ENSG00000198077",
          "biotype": "protein_coding",
          "start": 40873525,
          "end": 40882752,
          "strand": "-",
          "slug": "cyp2a7"
        },
        {
          "symbol": "CYP2A13",
          "ensemblId": "ENSG00000197838",
          "biotype": "protein_coding",
          "start": 41088451,
          "end": 41096195,
          "strand": "+",
          "slug": "cyp2a13"
        },
        {
          "symbol": "CYP2F1",
          "ensemblId": "ENSG00000197446",
          "biotype": "protein_coding",
          "start": 41114432,
          "end": 41128381,
          "strand": "+",
          "slug": "cyp2f1"
        },
        {
          "symbol": "CYP2S1",
          "ensemblId": "ENSG00000167600",
          "biotype": "protein_coding",
          "start": 41192911,
          "end": 41207540,
          "strand": "+",
          "slug": "cyp2s1"
        },
        {
          "symbol": "AXL",
          "ensemblId": "ENSG00000167601",
          "biotype": "protein_coding",
          "start": 41218934,
          "end": 41261766,
          "strand": "+",
          "slug": "axl"
        },
        {
          "symbol": "HNRNPUL1",
          "ensemblId": "ENSG00000105323",
          "biotype": "protein_coding",
          "start": 41262496,
          "end": 41307787,
          "strand": "+",
          "slug": "hnrnpul1"
        },
        {
          "symbol": "TGFB1",
          "ensemblId": "ENSG00000105329",
          "biotype": "protein_coding",
          "start": 41288203,
          "end": 41353961,
          "strand": "-",
          "slug": "tgfb1"
        },
        {
          "symbol": "CCDC97",
          "ensemblId": "ENSG00000142039",
          "biotype": "protein_coding",
          "start": 41310149,
          "end": 41334014,
          "strand": "+",
          "slug": "ccdc97"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000255730",
          "biotype": "protein_coding",
          "start": 41350853,
          "end": 41425001,
          "strand": "+"
        },
        {
          "symbol": "TMEM91",
          "ensemblId": "ENSG00000142046",
          "biotype": "protein_coding",
          "start": 41350885,
          "end": 41384742,
          "strand": "+",
          "slug": "tmem91"
        },
        {
          "symbol": "B9D2",
          "ensemblId": "ENSG00000123810",
          "biotype": "protein_coding",
          "start": 41354417,
          "end": 41364165,
          "strand": "-",
          "slug": "b9d2"
        },
        {
          "symbol": "EXOSC5",
          "ensemblId": "ENSG00000077348",
          "biotype": "protein_coding",
          "start": 41367173,
          "end": 41397441,
          "strand": "-",
          "slug": "exosc5"
        },
        {
          "symbol": "BCKDHA",
          "ensemblId": "ENSG00000248098",
          "biotype": "protein_coding",
          "start": 41397792,
          "end": 41425092,
          "strand": "+",
          "slug": "bckdha"
        },
        {
          "symbol": "B3GNT8",
          "ensemblId": "ENSG00000177191",
          "biotype": "protein_coding",
          "start": 41422878,
          "end": 41428730,
          "strand": "-",
          "slug": "b3gnt8"
        },
        {
          "symbol": "DMAC2",
          "ensemblId": "ENSG00000105341",
          "biotype": "protein_coding",
          "start": 41431317,
          "end": 41440717,
          "strand": "-",
          "slug": "dmac2"
        },
        {
          "symbol": "ERICH4",
          "ensemblId": "ENSG00000204978",
          "biotype": "protein_coding",
          "start": 41443152,
          "end": 41444765,
          "strand": "+",
          "slug": "erich4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [
      {
        "slug": "pharmacogenomics",
        "title": "Metabolismo do efavirenz",
        "summary": "O CYP2B6 elimina o antirretroviral efavirenz. Os alelos de função reduzida aumentam as concentrações no sangue, o que constitui a principal causa de sonhos vívidos, tonturas e outros efeitos a nível do sistema nervoso central que motivam a suspensão do medicamento.",
        "actionable": [
          "Relevante se tomar terapêutica antirretrovírica para o VIH à base de efavirenz ou nevirapina, e, em menor grau, sertralina, metadona ou bupropiom."
        ],
        "caveat": "Identifica *6 (516G>T com 785A>G), *9 (apenas 516G>T) e *18. Sem determinação de fase, a presença simultânea de 516G>T e 785A>G é interpretada como um único cromossoma *6; alelos mais raros não são avaliados.",
        "alleles": [
          {
            "name": "*18",
            "function": "No function",
            "reference": false
          },
          {
            "name": "*1",
            "function": "Normal function",
            "reference": true
          },
          {
            "name": "*9",
            "function": "Decreased function",
            "reference": false
          },
          {
            "name": "*6",
            "function": "Decreased function",
            "reference": false
          }
        ],
        "phenotypes": [
          "Poor Metabolizer",
          "Indeterminate",
          "Normal Metabolizer",
          "Rapid Metabolizer",
          "Ultrarapid Metabolizer",
          "Intermediate Metabolizer"
        ],
        "drugs": [
          {
            "name": "efavirenz",
            "cpicLevel": "A",
            "clinpgxLevel": "1A",
            "pgxTesting": "Informative PGx",
            "guideline": {
              "name": "CYP2B6 and efavirenz",
              "url": "https://www.clinpgx.org/guideline/PA166251463"
            }
          },
          {
            "name": "sertraline",
            "cpicLevel": "B",
            "clinpgxLevel": "1A",
            "guideline": {
              "name": "CYP2D6, CYP2C19, CYP2B6, SLC6A4, HTR2A and Serotonin Reuptake Inhibitor Antidepressants",
              "url": "https://www.clinpgx.org/guideline/PA166251452"
            }
          },
          {
            "name": "bupropion",
            "cpicLevel": "B/C",
            "clinpgxLevel": "2A"
          },
          {
            "name": "nevirapine",
            "cpicLevel": "B/C",
            "clinpgxLevel": "2A"
          },
          {
            "name": "methadone",
            "cpicLevel": "C",
            "clinpgxLevel": "2A",
            "guideline": {
              "name": "CYP2B6 and methadone",
              "url": "https://www.clinpgx.org/guideline/PA166411641"
            }
          }
        ],
        "name": "Farmacogenómica",
        "url": "https://dantelabs.com/pt/whole-genome-sequencing/pharmacogenomics"
      }
    ],
    "traits": [],
    "phenotypes": [],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}