{
  "url": "https://dantelabs.com/ro/genes/lcp2",
  "gene": {
    "slug": "lcp2",
    "symbol": "LCP2",
    "name": "lymphocyte cytosolic protein 2",
    "hgnc": "HGNC:6529",
    "summary": null,
    "location": "5q35.1",
    "locusType": "gene with protein product",
    "aliases": [
      "SLP-76"
    ],
    "previousSymbols": [
      "SLP76"
    ],
    "ensemblId": "ENSG00000043462",
    "entrezId": 3937,
    "omim": [
      "601603"
    ],
    "uniprot": [
      "Q13094"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 170246233,
      "end": 170297777,
      "strand": "-",
      "ensemblTranscript": "ENST00000046794.10",
      "refseqTranscript": "NM_005565.5",
      "ensemblProtein": "ENSP00000046794.5",
      "refseqProtein": "NP_005556.1",
      "exons": [
        {
          "start": 170246233,
          "end": 170248819
        },
        {
          "start": 170250730,
          "end": 170250885
        },
        {
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        },
        {
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        {
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        },
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        },
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        },
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        },
        {
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        },
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        {
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        },
        {
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        },
        {
          "start": 170293310,
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        },
        {
          "start": 170297534,
          "end": 170297777
        }
      ],
      "cds": {
        "start": 170248697,
        "end": 170297611
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 169673241,
      "end": 169725231,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 169772005,
      "end": 170772004,
      "genes": [
        {
          "symbol": "DOCK2",
          "ensemblId": "ENSG00000134516",
          "biotype": "protein_coding",
          "start": 169637224,
          "end": 170083382,
          "strand": "+",
          "slug": "dock2"
        },
        {
          "symbol": "INSYN2B",
          "ensemblId": "ENSG00000204767",
          "biotype": "protein_coding",
          "start": 169861303,
          "end": 169980507,
          "strand": "-",
          "slug": "insyn2b"
        },
        {
          "symbol": "FOXI1",
          "ensemblId": "ENSG00000168269",
          "biotype": "protein_coding",
          "start": 170105893,
          "end": 170109734,
          "strand": "+",
          "slug": "foxi1"
        },
        {
          "symbol": "C5orf58",
          "ensemblId": "ENSG00000234511",
          "biotype": "protein_coding",
          "start": 170228881,
          "end": 170252575,
          "strand": "+",
          "slug": "c5orf58"
        },
        {
          "symbol": "KCNIP1",
          "ensemblId": "ENSG00000182132",
          "biotype": "protein_coding",
          "start": 170353487,
          "end": 170736632,
          "strand": "+",
          "slug": "kcnip1"
        },
        {
          "symbol": "KCNMB1",
          "ensemblId": "ENSG00000145936",
          "biotype": "protein_coding",
          "start": 170364749,
          "end": 170480428,
          "strand": "-",
          "slug": "kcnmb1"
        },
        {
          "symbol": "GABRP",
          "ensemblId": "ENSG00000094755",
          "biotype": "protein_coding",
          "start": 170763350,
          "end": 170814047,
          "strand": "+",
          "slug": "gabrp"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Alte erori înnăscute ale imunității",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Boală de imunodeficiență",
            "genes": 170,
            "inheritance": null,
            "description": "Boală în care există o deficiență sau un defect al mecanismelor imunității, fie celulare, fie umorale.",
            "management": "Transplant de celule stem hematopoietice (HSCT) pentru SCID și imunodeficiențe primare (PID) severe; substituție cu imunoglobuline (IVIG/SCIG) pentru deficiențele de anticorpi; leniolisib (Joenja, FDA 2023) pentru APDS; terapie genică pentru SCID-ADA; abatacept pentru deficiența CTLA4/LRBA; antibiotice profilactice; G-CSF pentru CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-natural-killer-cell-physiology",
        "name": "Abnormal natural killer cell physiology",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-natural-killer-cell-physiology"
      },
      {
        "slug": "abnormally-low-t-cell-receptor-excision-circle-level",
        "name": "Abnormally low T cell receptor excision circle level",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormally-low-t-cell-receptor-excision-circle-level"
      },
      {
        "slug": "abscess",
        "name": "Abscess",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abscess"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "decreased-antigen-specific-t-cell-proliferation",
        "name": "Decreased antigen-specific T cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-antigen-specific-t-cell-proliferation"
      },
      {
        "slug": "decreased-class-switched-memory-b-cell-proportion",
        "name": "Decreased class-switched memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-class-switched-memory-b-cell-proportion"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-neutrophil-oxidative-burst",
        "name": "Decreased neutrophil oxidative burst",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-neutrophil-oxidative-burst"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "impaired-collagen-induced-platelet-aggregation",
        "name": "Impaired collagen-induced platelet aggregation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-collagen-induced-platelet-aggregation"
      },
      {
        "slug": "impaired-neutrophil-chemotaxis",
        "name": "Impaired neutrophil chemotaxis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-neutrophil-chemotaxis"
      },
      {
        "slug": "petechiae",
        "name": "Petechiae",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/petechiae"
      },
      {
        "slug": "recurrent-cutaneous-abscess-formation",
        "name": "Recurrent cutaneous abscess formation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-cutaneous-abscess-formation"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-rash"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/ro/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}