{
  "url": "https://dantelabs.com/fr/genes/afg2b",
  "gene": {
    "slug": "afg2b",
    "symbol": "AFG2B",
    "name": "AAA ATPase AFG2B",
    "hgnc": "HGNC:28762",
    "summary": null,
    "location": "15q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "MGC5347",
      "FLJ12286"
    ],
    "previousSymbols": [
      "SPATA5L1"
    ],
    "ensemblId": "ENSG00000171763",
    "entrezId": 79029,
    "omim": [
      "619578"
    ],
    "uniprot": [
      "Q9BVQ7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 45402336,
      "end": 45421415,
      "strand": "+",
      "ensemblTranscript": "ENST00000305560.11",
      "refseqTranscript": "NM_024063.3",
      "ensemblProtein": "ENSP00000305494.6",
      "refseqProtein": "NP_076968.2",
      "exons": [
        {
          "start": 45402336,
          "end": 45403518
        },
        {
          "start": 45405320,
          "end": 45405505
        },
        {
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        },
        {
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        },
        {
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          "end": 45415779
        },
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        {
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        },
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          "end": 45421415
        }
      ],
      "cds": {
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        "end": 45421210
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
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      "end": 45713617,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 44911876,
      "end": 45911875,
      "genes": [
        {
          "symbol": "TERB2",
          "ensemblId": "ENSG00000167014",
          "biotype": "protein_coding",
          "start": 44956687,
          "end": 44979229,
          "strand": "+",
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        },
        {
          "symbol": "SORD",
          "ensemblId": "ENSG00000140263",
          "biotype": "protein_coding",
          "start": 45023116,
          "end": 45077185,
          "strand": "+",
          "slug": "sord"
        },
        {
          "symbol": "DUOX2",
          "ensemblId": "ENSG00000140279",
          "biotype": "protein_coding",
          "start": 45092650,
          "end": 45114185,
          "strand": "-",
          "slug": "duox2"
        },
        {
          "symbol": "DUOXA2",
          "ensemblId": "ENSG00000140274",
          "biotype": "protein_coding",
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          "end": 45118421,
          "strand": "+",
          "slug": "duoxa2"
        },
        {
          "symbol": "DUOXA1",
          "ensemblId": "ENSG00000140254",
          "biotype": "protein_coding",
          "start": 45117364,
          "end": 45130611,
          "strand": "-",
          "slug": "duoxa1"
        },
        {
          "symbol": "DUOX1",
          "ensemblId": "ENSG00000137857",
          "biotype": "protein_coding",
          "start": 45129450,
          "end": 45165576,
          "strand": "+",
          "slug": "duox1"
        },
        {
          "symbol": "SHF",
          "ensemblId": "ENSG00000138606",
          "biotype": "protein_coding",
          "start": 45165572,
          "end": 45201175,
          "strand": "-",
          "slug": "shf"
        },
        {
          "symbol": "SLC28A2",
          "ensemblId": "ENSG00000137860",
          "biotype": "protein_coding",
          "start": 45252227,
          "end": 45277846,
          "strand": "+",
          "slug": "slc28a2"
        },
        {
          "symbol": "GATM",
          "ensemblId": "ENSG00000171766",
          "biotype": "protein_coding",
          "start": 45333479,
          "end": 45402327,
          "strand": "-",
          "slug": "gatm"
        },
        {
          "symbol": "COXFA4L3",
          "ensemblId": "ENSG00000166920",
          "biotype": "protein_coding",
          "start": 45430579,
          "end": 45448761,
          "strand": "+",
          "slug": "coxfa4l3"
        },
        {
          "symbol": "SLC30A4",
          "ensemblId": "ENSG00000104154",
          "biotype": "protein_coding",
          "start": 45479606,
          "end": 45522834,
          "strand": "-",
          "slug": "slc30a4"
        },
        {
          "symbol": "BLOC1S6",
          "ensemblId": "ENSG00000104164",
          "biotype": "protein_coding",
          "start": 45587108,
          "end": 45615945,
          "strand": "+",
          "slug": "bloc1s6"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000260170",
          "biotype": "protein_coding",
          "start": 45587351,
          "end": 45676314,
          "strand": "+"
        },
        {
          "symbol": "SQOR",
          "ensemblId": "ENSG00000137767",
          "biotype": "protein_coding",
          "start": 45631148,
          "end": 45691299,
          "strand": "+",
          "slug": "sqor"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Perte auditive et surdité",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Surdité génétique non syndromique",
            "genes": 97,
            "inheritance": null,
            "description": "Surdité héréditaire sans autres signes médicaux associés, y compris les formes récessives fréquentes causées par GJB2, OTOF, SLC26A4, STRC et de nombreux autres gènes, ainsi que les formes dominantes, liées à l'X et mitochondriales.",
            "management": "Connaître la cause génétique peut orienter la prise en charge auditive et les décisions concernant l'implant cochléaire, l'éligibilité à des essais de thérapie génique (par exemple pour OTOF) et le conseil génétique familial.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "enlarged-sylvian-cistern",
        "name": "Enlarged sylvian cistern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/enlarged-sylvian-cistern"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "thick-upper-lip-vermilion",
        "name": "Full upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/thick-upper-lip-vermilion"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "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": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "myoclonic-seizure",
        "name": "Myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonic-seizure"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "periventricular-leukomalacia",
        "name": "Periventricular leukomalacia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/periventricular-leukomalacia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "spastic-hemiparesis",
        "name": "Spastic hemiparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-hemiparesis"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/actg1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/cldn14"
      },
      {
        "slug": "clrn2",
        "symbol": "CLRN2",
        "name": "clarin 2",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/clrn2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}