{
  "url": "https://dantelabs.com/fr/genes/mfsd2a",
  "gene": {
    "slug": "mfsd2a",
    "symbol": "MFSD2A",
    "name": "MFSD2 lysolipid transporter A, lysophospholipid",
    "hgnc": "HGNC:25897",
    "summary": null,
    "location": "1p34.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ14490",
      "SLC59A1"
    ],
    "previousSymbols": [
      "MFSD2"
    ],
    "ensemblId": "ENSG00000168389",
    "entrezId": 84879,
    "omim": [
      "614397"
    ],
    "uniprot": [
      "Q8NA29"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 39955145,
      "end": 39969956,
      "strand": "+",
      "ensemblTranscript": "ENST00000372811.10",
      "refseqTranscript": "NM_032793.5",
      "ensemblProtein": "ENSP00000361898.6",
      "refseqProtein": "NP_116182.2",
      "exons": [
        {
          "start": 39955145,
          "end": 39955385
        },
        {
          "start": 39957087,
          "end": 39957221
        },
        {
          "start": 39958701,
          "end": 39958825
        },
        {
          "start": 39965211,
          "end": 39965334
        },
        {
          "start": 39965471,
          "end": 39965549
        },
        {
          "start": 39965857,
          "end": 39966014
        },
        {
          "start": 39966601,
          "end": 39966691
        },
        {
          "start": 39966811,
          "end": 39966932
        },
        {
          "start": 39967086,
          "end": 39967169
        },
        {
          "start": 39967628,
          "end": 39967711
        },
        {
          "start": 39967804,
          "end": 39967916
        },
        {
          "start": 39968334,
          "end": 39968477
        },
        {
          "start": 39968569,
          "end": 39968745
        },
        {
          "start": 39969505,
          "end": 39969956
        }
      ],
      "cds": {
        "start": 39955293,
        "end": 39969568
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 40420802,
      "end": 40435638,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 39462551,
      "end": 40462550,
      "genes": [
        {
          "symbol": "MACF1",
          "ensemblId": "ENSG00000127603",
          "biotype": "protein_coding",
          "start": 39081316,
          "end": 39487755,
          "strand": "+",
          "slug": "macf1"
        },
        {
          "symbol": "BMP8A",
          "ensemblId": "ENSG00000183682",
          "biotype": "protein_coding",
          "start": 39491069,
          "end": 39529869,
          "strand": "+",
          "slug": "bmp8a"
        },
        {
          "symbol": "PABPC4",
          "ensemblId": "ENSG00000090621",
          "biotype": "protein_coding",
          "start": 39560709,
          "end": 39576900,
          "strand": "-",
          "slug": "pabpc4"
        },
        {
          "symbol": "HEYL",
          "ensemblId": "ENSG00000163909",
          "biotype": "protein_coding",
          "start": 39608861,
          "end": 39639686,
          "strand": "-",
          "slug": "heyl"
        },
        {
          "symbol": "NT5C1A",
          "ensemblId": "ENSG00000116981",
          "biotype": "protein_coding",
          "start": 39651229,
          "end": 39673328,
          "strand": "-",
          "slug": "nt5c1a"
        },
        {
          "symbol": "HPCAL4",
          "ensemblId": "ENSG00000116983",
          "biotype": "protein_coding",
          "start": 39678648,
          "end": 39691718,
          "strand": "-",
          "slug": "hpcal4"
        },
        {
          "symbol": "PPIE",
          "ensemblId": "ENSG00000084072",
          "biotype": "protein_coding",
          "start": 39692182,
          "end": 39766108,
          "strand": "+",
          "slug": "ppie"
        },
        {
          "symbol": "BMP8B",
          "ensemblId": "ENSG00000116985",
          "biotype": "protein_coding",
          "start": 39756765,
          "end": 39788865,
          "strand": "-",
          "slug": "bmp8b"
        },
        {
          "symbol": "OXCT2",
          "ensemblId": "ENSG00000198754",
          "biotype": "protein_coding",
          "start": 39769523,
          "end": 39771348,
          "strand": "-",
          "slug": "oxct2"
        },
        {
          "symbol": "TRIT1",
          "ensemblId": "ENSG00000043514",
          "biotype": "protein_coding",
          "start": 39838110,
          "end": 39883511,
          "strand": "-",
          "slug": "trit1"
        },
        {
          "symbol": "MYCL",
          "ensemblId": "ENSG00000116990",
          "biotype": "protein_coding",
          "start": 39893597,
          "end": 39902256,
          "strand": "-",
          "slug": "mycl"
        },
        {
          "symbol": "CAP1",
          "ensemblId": "ENSG00000131236",
          "biotype": "protein_coding",
          "start": 40039735,
          "end": 40072767,
          "strand": "+",
          "slug": "cap1"
        },
        {
          "symbol": "PPT1",
          "ensemblId": "ENSG00000131238",
          "biotype": "protein_coding",
          "start": 40072710,
          "end": 40097267,
          "strand": "-",
          "slug": "ppt1"
        },
        {
          "symbol": "RLF",
          "ensemblId": "ENSG00000117000",
          "biotype": "protein_coding",
          "start": 40161357,
          "end": 40240923,
          "strand": "+",
          "slug": "rlf"
        },
        {
          "symbol": "TMCO2",
          "ensemblId": "ENSG00000188800",
          "biotype": "protein_coding",
          "start": 40245947,
          "end": 40251684,
          "strand": "+",
          "slug": "tmco2"
        },
        {
          "symbol": "ZMPSTE24",
          "ensemblId": "ENSG00000084073",
          "biotype": "protein_coding",
          "start": 40258041,
          "end": 40294199,
          "strand": "+",
          "slug": "zmpste24"
        },
        {
          "symbol": "COL9A2",
          "ensemblId": "ENSG00000049089",
          "biotype": "protein_coding",
          "start": 40300487,
          "end": 40317813,
          "strand": "-",
          "slug": "col9a2"
        },
        {
          "symbol": "SMAP2",
          "ensemblId": "ENSG00000084070",
          "biotype": "protein_coding",
          "start": 40344850,
          "end": 40423326,
          "strand": "+",
          "slug": "smap2"
        },
        {
          "symbol": "ZFP69B",
          "ensemblId": "ENSG00000187801",
          "biotype": "protein_coding",
          "start": 40450053,
          "end": 40464142,
          "strand": "+",
          "slug": "zfp69b"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cortical-bone-morphology",
        "name": "Abnormal cortical bone morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "bilateral-talipes-equinovarus",
        "name": "Club foot on both sides",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-talipes-equinovarus"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "spastic-tetraparesis",
        "name": "Spastic tetraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-tetraparesis"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      },
      {
        "slug": "hypoplasia-of-the-frontal-lobes",
        "name": "Underdeveloped frontal lobe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}