{
  "url": "https://dantelabs.com/no/genes/cxcr4",
  "gene": {
    "slug": "cxcr4",
    "symbol": "CXCR4",
    "name": "C-X-C motif chemokine receptor 4",
    "hgnc": "HGNC:2561",
    "summary": null,
    "location": "2q22.1",
    "locusType": "gene with protein product",
    "aliases": [
      "LESTR",
      "NPY3R",
      "HM89",
      "NPYY3R",
      "D2S201E",
      "fusin",
      "HSY3RR",
      "NPYR",
      "CD184"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000121966",
    "entrezId": 7852,
    "omim": [
      "162643"
    ],
    "uniprot": [
      "P61073"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 136114349,
      "end": 136118149,
      "strand": "-",
      "ensemblTranscript": "ENST00000241393.4",
      "refseqTranscript": "NM_003467.3",
      "ensemblProtein": "ENSP00000241393.3",
      "refseqProtein": "NP_003458.1",
      "exons": [
        {
          "start": 136114349,
          "end": 136115912
        },
        {
          "start": 136118046,
          "end": 136118149
        }
      ],
      "cds": {
        "start": 136114869,
        "end": 136118060
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 136871919,
      "end": 136875735,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 135616249,
      "end": 136616248,
      "genes": [
        {
          "symbol": "R3HDM1",
          "ensemblId": "ENSG00000048991",
          "biotype": "protein_coding",
          "start": 135531448,
          "end": 135725497,
          "strand": "+",
          "slug": "r3hdm1"
        },
        {
          "symbol": "UBXN4",
          "ensemblId": "ENSG00000144224",
          "biotype": "protein_coding",
          "start": 135741626,
          "end": 135785063,
          "strand": "+",
          "slug": "ubxn4"
        },
        {
          "symbol": "LCT",
          "ensemblId": "ENSG00000115850",
          "biotype": "protein_coding",
          "start": 135787850,
          "end": 135837184,
          "strand": "-",
          "slug": "lct"
        },
        {
          "symbol": "MCM6",
          "ensemblId": "ENSG00000076003",
          "biotype": "protein_coding",
          "start": 135839626,
          "end": 135876484,
          "strand": "-",
          "slug": "mcm6"
        },
        {
          "symbol": "DARS1",
          "ensemblId": "ENSG00000115866",
          "biotype": "protein_coding",
          "start": 135904936,
          "end": 135986100,
          "strand": "-",
          "slug": "dars1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-congenital-neutropenia",
        "name": "Alvorlig medfødt nøytropeni",
        "diseases": [
          {
            "mondoId": "MONDO:8000006",
            "name": "WHIM-syndrom 1",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "En dominant immunsykdom forårsaket av gain-of-function-endringer i CXCR4, med vorter, lave antistoffnivåer, gjentatte infeksjoner og nøytrofile granulocytter som holdes tilbake i benmargen.",
            "management": "En diagnose gjør det mulig å forebygge infeksjoner og gi antistofferstatning, og behandling med mavorixafor, en CXCR4-hemmer, kan vurderes.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/severe-congenital-neutropenia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-female-external-genitalia-morphology",
        "name": "Abnormal female external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-female-external-genitalia-morphology"
      },
      {
        "slug": "abnormal-morphology-of-female-internal-genitalia",
        "name": "Abnormal morphology of female internal genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia"
      },
      {
        "slug": "abnormal-neutrophil-morphology",
        "name": "Abnormal neutrophil morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-neutrophil-morphology"
      },
      {
        "slug": "abnormal-small-intestine-morphology",
        "name": "Abnormal small intestine morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-small-intestine-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "postural-instability",
        "name": "Balance impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-instability"
      },
      {
        "slug": "vitiligo",
        "name": "Blotchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vitiligo"
      },
      {
        "slug": "abnormal-bone-marrow-cell-morphology",
        "name": "Bone marrow disease",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/abnormal-bone-marrow-cell-morphology"
      },
      {
        "slug": "bone-marrow-hypercellularity",
        "name": "Bone marrow hypercellularity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypercellularity"
      },
      {
        "slug": "cervix-cancer",
        "name": "Cervix cancer",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cervix-cancer"
      },
      {
        "slug": "cutaneous-melanoma",
        "name": "Cutaneous melanoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cutaneous-melanoma"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "lymphadenitis",
        "name": "Inflammation of the lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lymphadenitis"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "otitis-media",
        "name": "Middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/otitis-media"
      },
      {
        "slug": "myelokathexis",
        "name": "Myelokathexis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myelokathexis"
      },
      {
        "slug": "papilloma",
        "name": "Papilloma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/papilloma"
      },
      {
        "slug": "parotitis",
        "name": "Parotitis",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/parotitis"
      },
      {
        "slug": "atelectasis",
        "name": "Partial or complete collapse of part or entire lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/atelectasis"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "pharyngitis",
        "name": "Pharyngitis",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pharyngitis"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-pneumonia",
        "name": "Recurrent pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-pneumonia"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "severe-periodontitis",
        "name": "Severe gum disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/severe-periodontitis"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "tetralogy-of-fallot",
        "name": "Tetralogy of Fallot",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetralogy-of-fallot"
      },
      {
        "slug": "verrucae",
        "name": "Warts",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/verrucae"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}