{
  "url": "https://dantelabs.com/el/genes/pak2",
  "gene": {
    "slug": "pak2",
    "symbol": "PAK2",
    "name": "p21 (RAC1) activated kinase 2",
    "hgnc": "HGNC:8591",
    "summary": null,
    "location": "3q29",
    "locusType": "gene with protein product",
    "aliases": [
      "PAK65",
      "PAKgamma"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000180370",
    "entrezId": 5062,
    "omim": [
      "605022"
    ],
    "uniprot": [
      "Q13177"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 196739857,
      "end": 196832647,
      "strand": "+",
      "ensemblTranscript": "ENST00000327134.7",
      "refseqTranscript": "NM_002577.4",
      "ensemblProtein": "ENSP00000314067.3",
      "refseqProtein": "NP_002568.2",
      "exons": [
        {
          "start": 196739857,
          "end": 196740157
        },
        {
          "start": 196782626,
          "end": 196782833
        },
        {
          "start": 196801927,
          "end": 196802027
        },
        {
          "start": 196803017,
          "end": 196803164
        },
        {
          "start": 196805352,
          "end": 196805383
        },
        {
          "start": 196806579,
          "end": 196806686
        },
        {
          "start": 196807782,
          "end": 196807914
        },
        {
          "start": 196810590,
          "end": 196810653
        },
        {
          "start": 196812219,
          "end": 196812267
        },
        {
          "start": 196812739,
          "end": 196812851
        },
        {
          "start": 196814451,
          "end": 196814568
        },
        {
          "start": 196818057,
          "end": 196818156
        },
        {
          "start": 196820371,
          "end": 196820567
        },
        {
          "start": 196827196,
          "end": 196827333
        },
        {
          "start": 196828319,
          "end": 196832647
        }
      ],
      "cds": {
        "start": 196782647,
        "end": 196828405
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 196466728,
      "end": 196559518,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 196286252,
      "end": 197286251,
      "genes": [
        {
          "symbol": "PCYT1A",
          "ensemblId": "ENSG00000161217",
          "biotype": "protein_coding",
          "start": 196214222,
          "end": 196287957,
          "strand": "-",
          "slug": "pcyt1a"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272741",
          "biotype": "protein_coding",
          "start": 196248230,
          "end": 196318222,
          "strand": "-"
        },
        {
          "symbol": "DYNLT2B",
          "ensemblId": "ENSG00000213123",
          "biotype": "protein_coding",
          "start": 196291219,
          "end": 196318328,
          "strand": "-",
          "slug": "dynlt2b"
        },
        {
          "symbol": "TM4SF19-DYNLT2B",
          "ensemblId": "ENSG00000273331",
          "biotype": "protein_coding",
          "start": 196316082,
          "end": 196338373,
          "strand": "-",
          "slug": "tm4sf19-dynlt2b"
        },
        {
          "symbol": "TM4SF19",
          "ensemblId": "ENSG00000145107",
          "biotype": "protein_coding",
          "start": 196319342,
          "end": 196338604,
          "strand": "-",
          "slug": "tm4sf19"
        },
        {
          "symbol": "UBXN7",
          "ensemblId": "ENSG00000163960",
          "biotype": "protein_coding",
          "start": 196347659,
          "end": 196432476,
          "strand": "-",
          "slug": "ubxn7"
        },
        {
          "symbol": "RNF168",
          "ensemblId": "ENSG00000163961",
          "biotype": "protein_coding",
          "start": 196468783,
          "end": 196503824,
          "strand": "-",
          "slug": "rnf168"
        },
        {
          "symbol": "SMCO1",
          "ensemblId": "ENSG00000214097",
          "biotype": "protein_coding",
          "start": 196506877,
          "end": 196515368,
          "strand": "-",
          "slug": "smco1"
        },
        {
          "symbol": "WDR53",
          "ensemblId": "ENSG00000185798",
          "biotype": "protein_coding",
          "start": 196552217,
          "end": 196569263,
          "strand": "-",
          "slug": "wdr53"
        },
        {
          "symbol": "FBXO45",
          "ensemblId": "ENSG00000174013",
          "biotype": "protein_coding",
          "start": 196568611,
          "end": 196589059,
          "strand": "+",
          "slug": "fbxo45"
        },
        {
          "symbol": "NRROS",
          "ensemblId": "ENSG00000174004",
          "biotype": "protein_coding",
          "start": 196639676,
          "end": 196707522,
          "strand": "+",
          "slug": "nrros"
        },
        {
          "symbol": "PIGX",
          "ensemblId": "ENSG00000163964",
          "biotype": "protein_coding",
          "start": 196639775,
          "end": 196736016,
          "strand": "+",
          "slug": "pigx"
        },
        {
          "symbol": "CEP19",
          "ensemblId": "ENSG00000174007",
          "biotype": "protein_coding",
          "start": 196706268,
          "end": 196712603,
          "strand": "-",
          "slug": "cep19"
        },
        {
          "symbol": "SENP5",
          "ensemblId": "ENSG00000119231",
          "biotype": "protein_coding",
          "start": 196867856,
          "end": 196934718,
          "strand": "+",
          "slug": "senp5"
        },
        {
          "symbol": "NCBP2",
          "ensemblId": "ENSG00000114503",
          "biotype": "protein_coding",
          "start": 196935402,
          "end": 196942594,
          "strand": "-",
          "slug": "ncbp2"
        },
        {
          "symbol": "NCBP2AS2",
          "ensemblId": "ENSG00000270170",
          "biotype": "protein_coding",
          "start": 196942674,
          "end": 196943543,
          "strand": "+",
          "slug": "ncbp2as2"
        },
        {
          "symbol": "PIGZ",
          "ensemblId": "ENSG00000119227",
          "biotype": "protein_coding",
          "start": 196946344,
          "end": 196969060,
          "strand": "-",
          "slug": "pigz"
        },
        {
          "symbol": "MELTF",
          "ensemblId": "ENSG00000163975",
          "biotype": "protein_coding",
          "start": 196980590,
          "end": 197029874,
          "strand": "-",
          "slug": "meltf"
        },
        {
          "symbol": "DLG1",
          "ensemblId": "ENSG00000075711",
          "biotype": "protein_coding",
          "start": 197042560,
          "end": 197299332,
          "strand": "-",
          "slug": "dlg1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "vitreoretinopathy",
        "name": "Προλιferative Βιτρεοαμφιβληστροειδοπάθεια",
        "diseases": [
          {
            "mondoId": "MONDO:0020248",
            "name": "Βιτρεοαμφιβληστροειδής Εκφύλιση",
            "genes": 21,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/vitreoretinopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-vitreous-humor-morphology",
        "name": "Abnormal vitreous humor morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-vitreous-humor-morphology"
      },
      {
        "slug": "abnormal-pulmonary-interstitial-morphology",
        "name": "Abnormality in area between air sacs in lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "anterior-cortical-cataract",
        "name": "Anterior cortical cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anterior-cortical-cataract"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "bifid-ureter",
        "name": "Bifid ureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-ureter"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "bronchial-wall-thickening",
        "name": "Bronchial wall thickening",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchial-wall-thickening"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "calvarial-skull-defect",
        "name": "Cranial defect",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/calvarial-skull-defect"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "ectopia-lentis",
        "name": "Ectopia lentis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ectopia-lentis"
      },
      {
        "slug": "encephalocele",
        "name": "Encephalocele",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalocele"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "vitreous-floaters",
        "name": "Eye floaters",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vitreous-floaters"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "dextrocardia",
        "name": "Heart tip and four chambers point towards right side of body",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dextrocardia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "lymphangioma",
        "name": "Lymphangioma",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphangioma"
      },
      {
        "slug": "macular-degeneration",
        "name": "Macular degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/macular-degeneration"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "single-umbilical-artery",
        "name": "Only one artery in umbilical cord instead of two",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/single-umbilical-artery"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "progressive-visual-loss",
        "name": "Progressive loss of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-visual-loss"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "enamel-hypoplasia",
        "name": "Thin dental enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enamel-hypoplasia"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "vitreoretinopathy",
        "name": "Vitreoretinopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vitreoretinopathy"
      }
    ],
    "related": [
      {
        "slug": "best1",
        "symbol": "BEST1",
        "name": "bestrophin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/best1"
      },
      {
        "slug": "capn5",
        "symbol": "CAPN5",
        "name": "calpain 5",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/capn5"
      },
      {
        "slug": "col11a1",
        "symbol": "COL11A1",
        "name": "collagen type XI alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col11a1"
      },
      {
        "slug": "col18a1",
        "symbol": "COL18A1",
        "name": "collagen type XVIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col18a1"
      },
      {
        "slug": "col2a1",
        "symbol": "COL2A1",
        "name": "collagen type II alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col2a1"
      },
      {
        "slug": "col9a1",
        "symbol": "COL9A1",
        "name": "collagen type IX alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col9a1"
      },
      {
        "slug": "col9a2",
        "symbol": "COL9A2",
        "name": "collagen type IX alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col9a2"
      },
      {
        "slug": "col9a3",
        "symbol": "COL9A3",
        "name": "collagen type IX alpha 3 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col9a3"
      },
      {
        "slug": "ctnnb1",
        "symbol": "CTNNB1",
        "name": "catenin beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ctnnb1"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/dync1h1"
      },
      {
        "slug": "fzd4",
        "symbol": "FZD4",
        "name": "frizzled class receptor 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/fzd4"
      },
      {
        "slug": "kcnj13",
        "symbol": "KCNJ13",
        "name": "potassium inwardly rectifying channel subfamily J member 13",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kcnj13"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}