{
  "url": "https://dantelabs.com/hu/genes/tubb2a",
  "gene": {
    "slug": "tubb2a",
    "symbol": "TUBB2A",
    "name": "tubulin beta 2A class IIa",
    "hgnc": "HGNC:12412",
    "summary": null,
    "location": "6p25.2",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ40E16.7"
    ],
    "previousSymbols": [
      "TUBB",
      "TUBB2"
    ],
    "ensemblId": "ENSG00000137267",
    "entrezId": 7280,
    "omim": [
      "615101"
    ],
    "uniprot": [
      "Q13885"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 3153666,
      "end": 3157544,
      "strand": "-",
      "ensemblTranscript": "ENST00000333628.4",
      "refseqTranscript": "NM_001069.3",
      "ensemblProtein": "ENSP00000369703.2",
      "refseqProtein": "NP_001060.1",
      "exons": [
        {
          "start": 3153666,
          "end": 3154923
        },
        {
          "start": 3155625,
          "end": 3155735
        },
        {
          "start": 3156044,
          "end": 3156152
        },
        {
          "start": 3157407,
          "end": 3157544
        }
      ],
      "cds": {
        "start": 3153863,
        "end": 3157463
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 3153903,
      "end": 3157760,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2655605,
      "end": 3655604,
      "genes": [
        {
          "symbol": "MYLK4",
          "ensemblId": "ENSG00000145949",
          "biotype": "protein_coding",
          "start": 2663629,
          "end": 2770381,
          "strand": "-",
          "slug": "mylk4"
        },
        {
          "symbol": "WRNIP1",
          "ensemblId": "ENSG00000124535",
          "biotype": "protein_coding",
          "start": 2765323,
          "end": 2791517,
          "strand": "+",
          "slug": "wrnip1"
        },
        {
          "symbol": "SERPINB1",
          "ensemblId": "ENSG00000021355",
          "biotype": "protein_coding",
          "start": 2832332,
          "end": 2842035,
          "strand": "-",
          "slug": "serpinb1"
        },
        {
          "symbol": "SERPINB9",
          "ensemblId": "ENSG00000170542",
          "biotype": "protein_coding",
          "start": 2887169,
          "end": 2903318,
          "strand": "-",
          "slug": "serpinb9"
        },
        {
          "symbol": "SERPINB6",
          "ensemblId": "ENSG00000124570",
          "biotype": "protein_coding",
          "start": 2944468,
          "end": 2972375,
          "strand": "-",
          "slug": "serpinb6"
        },
        {
          "symbol": "NQO2",
          "ensemblId": "ENSG00000124588",
          "biotype": "protein_coding",
          "start": 2987987,
          "end": 3022745,
          "strand": "+",
          "slug": "nqo2"
        },
        {
          "symbol": "RIPK1",
          "ensemblId": "ENSG00000137275",
          "biotype": "protein_coding",
          "start": 3063824,
          "end": 3115188,
          "strand": "+",
          "slug": "ripk1"
        },
        {
          "symbol": "BPHL",
          "ensemblId": "ENSG00000137274",
          "biotype": "protein_coding",
          "start": 3118374,
          "end": 3153661,
          "strand": "+",
          "slug": "bphl"
        },
        {
          "symbol": "TUBB2B",
          "ensemblId": "ENSG00000137285",
          "biotype": "protein_coding",
          "start": 3223324,
          "end": 3231730,
          "strand": "-",
          "slug": "tubb2b"
        },
        {
          "symbol": "PSMG4",
          "ensemblId": "ENSG00000180822",
          "biotype": "protein_coding",
          "start": 3231403,
          "end": 3304360,
          "strand": "+",
          "slug": "psmg4"
        },
        {
          "symbol": "SLC22A23",
          "ensemblId": "ENSG00000137266",
          "biotype": "protein_coding",
          "start": 3268962,
          "end": 3457100,
          "strand": "-",
          "slug": "slc22a23"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cortical-dysplasia",
        "name": "Cortical dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cortical-dysplasia"
      },
      {
        "slug": "enlarged-posterior-fossa",
        "name": "Enlarged posterior fossa",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlarged-posterior-fossa"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "multifocal-epileptiform-discharges",
        "name": "Multifocal epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multifocal-epileptiform-discharges"
      },
      {
        "slug": "reduced-cerebral-white-matter-volume",
        "name": "Reduced cerebral white matter volume",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-cerebral-white-matter-volume"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}