{
  "url": "https://dantelabs.com/el/genes/reep2",
  "gene": {
    "slug": "reep2",
    "symbol": "REEP2",
    "name": "receptor accessory protein 2",
    "hgnc": "HGNC:17975",
    "summary": null,
    "location": "5q31.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SGC32445",
      "SPG72",
      "Yip2d"
    ],
    "previousSymbols": [
      "C5orf19"
    ],
    "ensemblId": "ENSG00000132563",
    "entrezId": 51308,
    "omim": [
      "609347"
    ],
    "uniprot": [
      "Q9BRK0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 138439057,
      "end": 138446965,
      "strand": "+",
      "ensemblTranscript": "ENST00000378339.7",
      "refseqTranscript": "NM_001271803.2",
      "ensemblProtein": "ENSP00000367590.2",
      "refseqProtein": "NP_001258732.1",
      "exons": [
        {
          "start": 138439057,
          "end": 138439240
        },
        {
          "start": 138441016,
          "end": 138441088
        },
        {
          "start": 138441385,
          "end": 138441461
        },
        {
          "start": 138444415,
          "end": 138444535
        },
        {
          "start": 138444754,
          "end": 138444867
        },
        {
          "start": 138445228,
          "end": 138445375
        },
        {
          "start": 138445468,
          "end": 138445598
        },
        {
          "start": 138445683,
          "end": 138446965
        }
      ],
      "cds": {
        "start": 138439209,
        "end": 138445751
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 137774706,
      "end": 137782658,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 137943011,
      "end": 138943010,
      "genes": [
        {
          "symbol": "FAM13B",
          "ensemblId": "ENSG00000031003",
          "biotype": "protein_coding",
          "start": 137937960,
          "end": 138051961,
          "strand": "-",
          "slug": "fam13b"
        },
        {
          "symbol": "WNT8A",
          "ensemblId": "ENSG00000061492",
          "biotype": "protein_coding",
          "start": 138083990,
          "end": 138092365,
          "strand": "+",
          "slug": "wnt8a"
        },
        {
          "symbol": "NME5",
          "ensemblId": "ENSG00000112981",
          "biotype": "protein_coding",
          "start": 138114412,
          "end": 138139443,
          "strand": "-",
          "slug": "nme5"
        },
        {
          "symbol": "BRD8",
          "ensemblId": "ENSG00000112983",
          "biotype": "protein_coding",
          "start": 138139770,
          "end": 138178988,
          "strand": "-",
          "slug": "brd8"
        },
        {
          "symbol": "KIF20A",
          "ensemblId": "ENSG00000112984",
          "biotype": "protein_coding",
          "start": 138178715,
          "end": 138188171,
          "strand": "+",
          "slug": "kif20a"
        },
        {
          "symbol": "CDC23",
          "ensemblId": "ENSG00000094880",
          "biotype": "protein_coding",
          "start": 138180663,
          "end": 138213346,
          "strand": "-",
          "slug": "cdc23"
        },
        {
          "symbol": "GFRA3",
          "ensemblId": "ENSG00000146013",
          "biotype": "protein_coding",
          "start": 138252380,
          "end": 138274621,
          "strand": "-",
          "slug": "gfra3"
        },
        {
          "symbol": "CDC25C",
          "ensemblId": "ENSG00000158402",
          "biotype": "protein_coding",
          "start": 138285251,
          "end": 138338355,
          "strand": "-",
          "slug": "cdc25c"
        },
        {
          "symbol": "FAM53C",
          "ensemblId": "ENSG00000120709",
          "biotype": "protein_coding",
          "start": 138331935,
          "end": 138349729,
          "strand": "+",
          "slug": "fam53c"
        },
        {
          "symbol": "KDM3B",
          "ensemblId": "ENSG00000120733",
          "biotype": "protein_coding",
          "start": 138352676,
          "end": 138437028,
          "strand": "+",
          "slug": "kdm3b"
        },
        {
          "symbol": "EGR1",
          "ensemblId": "ENSG00000120738",
          "biotype": "protein_coding",
          "start": 138465190,
          "end": 138471204,
          "strand": "+",
          "slug": "egr1"
        },
        {
          "symbol": "ETF1",
          "ensemblId": "ENSG00000120705",
          "biotype": "protein_coding",
          "start": 138506093,
          "end": 138543239,
          "strand": "-",
          "slug": "etf1"
        },
        {
          "symbol": "HSPA9",
          "ensemblId": "ENSG00000113013",
          "biotype": "protein_coding",
          "start": 138553756,
          "end": 138575675,
          "strand": "-",
          "slug": "hspa9"
        },
        {
          "symbol": "CTNNA1",
          "ensemblId": "ENSG00000044115",
          "biotype": "protein_coding",
          "start": 138610967,
          "end": 138935039,
          "strand": "+",
          "slug": "ctnna1"
        },
        {
          "symbol": "LRRTM2",
          "ensemblId": "ENSG00000146006",
          "biotype": "protein_coding",
          "start": 138868921,
          "end": 138875383,
          "strand": "-",
          "slug": "lrrtm2"
        },
        {
          "symbol": "SIL1",
          "ensemblId": "ENSG00000120725",
          "biotype": "protein_coding",
          "start": 138886914,
          "end": 139293557,
          "strand": "-",
          "slug": "sil1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Κληρονομική σπαστική παραπληγία",
        "diseases": [
          {
            "mondoId": "MONDO:0014282",
            "name": "Κληρονομική σπαστική παραπληγία 72",
            "genes": 1,
            "inheritance": null,
            "description": "Οποιαδήποτε καθαρή κληρονομική σπαστική παραπληγία στην οποία η αιτία της νόσου είναι μια μετάλλαξη στο γονίδιο REEP2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019064",
            "name": "Κληρονομική σπαστική παραπληγία (όλοι οι τύποι)",
            "genes": 66,
            "inheritance": null,
            "description": "Γενικός όρος που καλύπτει όλες τις κληρονομικές σπαστικές παραπληγίες, συμπεριλαμβανομένης της SPG4 (SPAST), της συχνότερης επικρατούσας μορφής, καθώς και των SPG5A, SPG6, SPG10, SPG18, SPG30 και SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-spastic-paraplegia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormality-of-mental-function",
        "name": "Abnormality of mental function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-mental-function"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hoffmann-sign",
        "name": "Hoffmann sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hoffmann-sign"
      },
      {
        "slug": "impaired-vibration-sensation-at-ankles",
        "name": "Impaired vibration sensation at ankles",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "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": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "muscle-stiffness",
        "name": "Muscle stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-stiffness"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "rigidity",
        "name": "Rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rigidity"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      }
    ],
    "related": [
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abcd1"
      },
      {
        "slug": "abhd16a",
        "symbol": "ABHD16A",
        "name": "abhydrolase domain containing 16A, phospholipase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abhd16a"
      },
      {
        "slug": "aldh18a1",
        "symbol": "ALDH18A1",
        "name": "aldehyde dehydrogenase 18 family member A1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/aldh18a1"
      },
      {
        "slug": "amfr",
        "symbol": "AMFR",
        "name": "autocrine motility factor receptor",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/amfr"
      },
      {
        "slug": "ap4b1",
        "symbol": "AP4B1",
        "name": "adaptor related protein complex 4 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ap4b1"
      },
      {
        "slug": "ap4e1",
        "symbol": "AP4E1",
        "name": "adaptor related protein complex 4 subunit epsilon 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ap4e1"
      },
      {
        "slug": "ap4m1",
        "symbol": "AP4M1",
        "name": "adaptor related protein complex 4 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ap4m1"
      },
      {
        "slug": "ap4s1",
        "symbol": "AP4S1",
        "name": "adaptor related protein complex 4 subunit sigma 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ap4s1"
      },
      {
        "slug": "ap5z1",
        "symbol": "AP5Z1",
        "name": "adaptor related protein complex 5 subunit zeta 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/ap5z1"
      },
      {
        "slug": "arl6ip1",
        "symbol": "ARL6IP1",
        "name": "ARL6 interacting reticulophagy regulator 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/arl6ip1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atl1"
      },
      {
        "slug": "atp13a2",
        "symbol": "ATP13A2",
        "name": "ATPase cation transporting 13A2",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/atp13a2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}