{
  "url": "https://dantelabs.com/lt/genes/gprc5b",
  "gene": {
    "slug": "gprc5b",
    "symbol": "GPRC5B",
    "name": "G protein-coupled receptor class C group 5 member B",
    "hgnc": "HGNC:13308",
    "summary": null,
    "location": "16p12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RAIG-2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167191",
    "entrezId": 51704,
    "omim": [
      "605948"
    ],
    "uniprot": [
      "Q9NZH0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 19856691,
      "end": 19884848,
      "strand": "-",
      "ensemblTranscript": "ENST00000300571.7",
      "refseqTranscript": "NM_016235.3",
      "ensemblProtein": "ENSP00000300571.2",
      "refseqProtein": "NP_057319.1",
      "exons": [
        {
          "start": 19856691,
          "end": 19860544
        },
        {
          "start": 19861837,
          "end": 19861973
        },
        {
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        },
        {
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          "end": 19884848
        }
      ],
      "cds": {
        "start": 19860500,
        "end": 19872845
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 19868616,
      "end": 19897489,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 19370770,
      "end": 20370769,
      "genes": [
        {
          "symbol": "TMC5",
          "ensemblId": "ENSG00000103534",
          "biotype": "protein_coding",
          "start": 19410428,
          "end": 19499117,
          "strand": "+",
          "slug": "tmc5"
        },
        {
          "symbol": "GDE1",
          "ensemblId": "ENSG00000006007",
          "biotype": "protein_coding",
          "start": 19501681,
          "end": 19522132,
          "strand": "-",
          "slug": "gde1"
        },
        {
          "symbol": "CCP110",
          "ensemblId": "ENSG00000103540",
          "biotype": "protein_coding",
          "start": 19523808,
          "end": 19553408,
          "strand": "+",
          "slug": "ccp110"
        },
        {
          "symbol": "VPS35L",
          "ensemblId": "ENSG00000103544",
          "biotype": "protein_coding",
          "start": 19555240,
          "end": 19706793,
          "strand": "+",
          "slug": "vps35l"
        },
        {
          "symbol": "KNOP1",
          "ensemblId": "ENSG00000103550",
          "biotype": "protein_coding",
          "start": 19657344,
          "end": 19718751,
          "strand": "-",
          "slug": "knop1"
        },
        {
          "symbol": "IQCK",
          "ensemblId": "ENSG00000174628",
          "biotype": "protein_coding",
          "start": 19716456,
          "end": 19858467,
          "strand": "+",
          "slug": "iqck"
        },
        {
          "symbol": "GPR139",
          "ensemblId": "ENSG00000180269",
          "biotype": "protein_coding",
          "start": 20028239,
          "end": 20073890,
          "strand": "-",
          "slug": "gpr139"
        },
        {
          "symbol": "GP2",
          "ensemblId": "ENSG00000169347",
          "biotype": "protein_coding",
          "start": 20309574,
          "end": 20328412,
          "strand": "-",
          "slug": "gp2"
        },
        {
          "symbol": "UMOD",
          "ensemblId": "ENSG00000169344",
          "biotype": "protein_coding",
          "start": 20331489,
          "end": 20356402,
          "strand": "-",
          "slug": "umod"
        },
        {
          "symbol": "PDILT",
          "ensemblId": "ENSG00000169340",
          "biotype": "protein_coding",
          "start": 20359175,
          "end": 20404737,
          "strand": "-",
          "slug": "pdilt"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "megalencephalic-leukoencephalopathy-with-subcortical-cysts",
        "name": "Megalencefalinė leukoencefalopatija su pokortikinėmis cistomis",
        "diseases": [
          {
            "mondoId": "MONDO:0011391",
            "name": "Megalencefalinė leukoencefalopatija su pokortikinėmis cistomis (MLC1, HEPACAM, GPRC5B)",
            "genes": 3,
            "inheritance": null,
            "description": "Nuo kūdikystės sukelia padidėjusią galvą ir lėtai progresuojančius pusiausvyros sutrikimus, spastiškumą, kartais traukulius; kai kuriais HEPACAM sukeltais atvejais laikui bėgant būklė gerėja (remituojanti MLC).",
            "management": "Diagnozė paaiškina smegenų vaizdinių tyrimų rezultatus, padeda nustatyti traukulių ir palaikomąjį gydymą bei paaiškina riziką artimiesiems.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/megalencephalic-leukoencephalopathy-with-subcortical-cysts"
      },
      {
        "slug": "leukodystrophy",
        "name": "Ostatinės paveldimos leukodistrofijos",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodistrofija (kiti ir nenurodyti tipai)",
            "genes": 80,
            "inheritance": null,
            "description": "Paveldimos ligos, kurios pažeidžia mielino apvalkalą arba trukdo jam tinkamai susidaryti – smegenų ir nugaros smegenų baltąją medžiagą. Skirtingi tipai paveldimi autosominiu recesyviniu, autosominiu dominantiniu arba X chromosomos būdu, priklausomai nuo susijusio geno.",
            "management": "Žinodami konkrečią genetinę priežastį, galite nutraukti diagnostinę paiešką, gauti tinkamesnę palaikomąją priežiūrą ir stebėseną, sužinoti, ar yra konkretus gydymas, ir įvertinti giminaičių tikrinimo galimybes.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "cerebral-subcortical-cyst",
        "name": "Cerebral subcortical cyst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-subcortical-cyst"
      },
      {
        "slug": "cerebral-white-matter-atrophy",
        "name": "Cerebral white matter atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-white-matter-atrophy"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "diffuse-swelling-of-cerebral-white-matter",
        "name": "Diffuse swelling of cerebral white matter",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diffuse-swelling-of-cerebral-white-matter"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "postnatal-macrocephaly",
        "name": "Postnatal macrocephaly",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postnatal-macrocephaly"
      },
      {
        "slug": "motor-deterioration",
        "name": "Progressive degeneration of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-deterioration"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "upper-limb-spasticity",
        "name": "Uncontrollable movement in upper arms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/upper-limb-spasticity"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      }
    ],
    "related": [
      {
        "slug": "hepacam",
        "symbol": "HEPACAM",
        "name": "hepatic and glial cell adhesion molecule",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/hepacam"
      },
      {
        "slug": "mlc1",
        "symbol": "MLC1",
        "name": "modulator of VRAC current 1",
        "shared": 2,
        "url": "https://dantelabs.com/lt/genes/mlc1"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/abcd1"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/adar"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aimp2"
      },
      {
        "slug": "aldh3a2",
        "symbol": "ALDH3A2",
        "name": "aldehyde dehydrogenase 3 family member A2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aldh3a2"
      },
      {
        "slug": "arsa",
        "symbol": "ARSA",
        "name": "arylsulfatase A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/arsa"
      },
      {
        "slug": "aspa",
        "symbol": "ASPA",
        "name": "aspartoacylase",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aspa"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}