{
  "url": "https://dantelabs.com/hu/genes/st3gal5",
  "gene": {
    "slug": "st3gal5",
    "symbol": "ST3GAL5",
    "name": "ST3 beta-galactoside alpha-2,3-sialyltransferase 5",
    "hgnc": "HGNC:10872",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "ST3GalV",
      "SIATGM3S"
    ],
    "previousSymbols": [
      "SIAT9"
    ],
    "ensemblId": "ENSG00000115525",
    "entrezId": 8869,
    "omim": [
      "604402"
    ],
    "uniprot": [
      "Q9UNP4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 85837120,
      "end": 85888990,
      "strand": "-",
      "ensemblTranscript": "ENST00000638572.2",
      "refseqTranscript": "NM_003896.4",
      "ensemblProtein": "ENSP00000491316.1",
      "refseqProtein": "NP_003887.3",
      "exons": [
        {
          "start": 85837120,
          "end": 85840392
        },
        {
          "start": 85844396,
          "end": 85844554
        },
        {
          "start": 85846377,
          "end": 85846563
        },
        {
          "start": 85847861,
          "end": 85848204
        },
        {
          "start": 85861181,
          "end": 85861292
        },
        {
          "start": 85863362,
          "end": 85863485
        },
        {
          "start": 85888824,
          "end": 85888990
        }
      ],
      "cds": {
        "start": 85840144,
        "end": 85888905
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 86066267,
      "end": 86116137,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 85363055,
      "end": 86363054,
      "genes": [
        {
          "symbol": "ELMOD3",
          "ensemblId": "ENSG00000115459",
          "biotype": "protein_coding",
          "start": 85354394,
          "end": 85391752,
          "strand": "+",
          "slug": "elmod3"
        },
        {
          "symbol": "CAPG",
          "ensemblId": "ENSG00000042493",
          "biotype": "protein_coding",
          "start": 85388144,
          "end": 85422017,
          "strand": "-",
          "slug": "capg"
        },
        {
          "symbol": "SH2D6",
          "ensemblId": "ENSG00000152292",
          "biotype": "protein_coding",
          "start": 85418714,
          "end": 85437029,
          "strand": "+",
          "slug": "sh2d6"
        },
        {
          "symbol": "MAT2A",
          "ensemblId": "ENSG00000168906",
          "biotype": "protein_coding",
          "start": 85539163,
          "end": 85545281,
          "strand": "+",
          "slug": "mat2a"
        },
        {
          "symbol": "GGCX",
          "ensemblId": "ENSG00000115486",
          "biotype": "protein_coding",
          "start": 85544720,
          "end": 85561838,
          "strand": "-",
          "slug": "ggcx"
        },
        {
          "symbol": "VAMP8",
          "ensemblId": "ENSG00000118640",
          "biotype": "protein_coding",
          "start": 85561562,
          "end": 85582032,
          "strand": "+",
          "slug": "vamp8"
        },
        {
          "symbol": "VAMP5",
          "ensemblId": "ENSG00000168899",
          "biotype": "protein_coding",
          "start": 85584397,
          "end": 85593421,
          "strand": "+",
          "slug": "vamp5"
        },
        {
          "symbol": "RNF181",
          "ensemblId": "ENSG00000168894",
          "biotype": "protein_coding",
          "start": 85595620,
          "end": 85598589,
          "strand": "+",
          "slug": "rnf181"
        },
        {
          "symbol": "TMEM150A",
          "ensemblId": "ENSG00000168890",
          "biotype": "protein_coding",
          "start": 85598547,
          "end": 85603201,
          "strand": "-",
          "slug": "tmem150a"
        },
        {
          "symbol": "USP39",
          "ensemblId": "ENSG00000168883",
          "biotype": "protein_coding",
          "start": 85602856,
          "end": 85657710,
          "strand": "+",
          "slug": "usp39"
        },
        {
          "symbol": "C2orf68",
          "ensemblId": "ENSG00000168887",
          "biotype": "protein_coding",
          "start": 85605254,
          "end": 85612066,
          "strand": "-",
          "slug": "c2orf68"
        },
        {
          "symbol": "SFTPB",
          "ensemblId": "ENSG00000168878",
          "biotype": "protein_coding",
          "start": 85655154,
          "end": 85668741,
          "strand": "-",
          "slug": "sftpb"
        },
        {
          "symbol": "GNLY",
          "ensemblId": "ENSG00000115523",
          "biotype": "protein_coding",
          "start": 85685175,
          "end": 85698854,
          "strand": "+",
          "slug": "gnly"
        },
        {
          "symbol": "ATOH8",
          "ensemblId": "ENSG00000168874",
          "biotype": "protein_coding",
          "start": 85751344,
          "end": 85794266,
          "strand": "+",
          "slug": "atoh8"
        },
        {
          "symbol": "POLR1A",
          "ensemblId": "ENSG00000068654",
          "biotype": "protein_coding",
          "start": 86020216,
          "end": 86106155,
          "strand": "-",
          "slug": "polr1a"
        },
        {
          "symbol": "PTCD3",
          "ensemblId": "ENSG00000132300",
          "biotype": "protein_coding",
          "start": 86106223,
          "end": 86142157,
          "strand": "+",
          "slug": "ptcd3"
        },
        {
          "symbol": "IMMT",
          "ensemblId": "ENSG00000132305",
          "biotype": "protein_coding",
          "start": 86142798,
          "end": 86195631,
          "strand": "-",
          "slug": "immt"
        },
        {
          "symbol": "MRPL35",
          "ensemblId": "ENSG00000132313",
          "biotype": "protein_coding",
          "start": 86199355,
          "end": 86222540,
          "strand": "+",
          "slug": "mrpl35"
        },
        {
          "symbol": "REEP1",
          "ensemblId": "ENSG00000068615",
          "biotype": "protein_coding",
          "start": 86210522,
          "end": 86338083,
          "strand": "-",
          "slug": "reep1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "gpi-anchor-biosynthesis-defects",
        "name": "GPI Anchor Biosynthesis Defects",
        "diseases": [
          {
            "mondoId": "MONDO:0024321",
            "name": "Disorders of GPI Anchor Biosynthesis",
            "genes": 20,
            "inheritance": null,
            "description": "A group of inherited conditions caused by variants in the PIG, PGAP and related genes needed to make and attach the GPI anchor, typically causing developmental delay, low muscle tone and epilepsy.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/gpi-anchor-biosynthesis-defects"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Congenital Disorders of Glycosylation",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Congenital Disorders of Glycosylation (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/disorder-of-glycosylation"
      }
    ],
    "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": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "developmental-stagnation-at-onset-of-seizures",
        "name": "Developmental stagnation at onset of seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-stagnation-at-onset-of-seizures"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hypermelanotic-macule",
        "name": "Hyperpigmented skin patches",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hypermelanotic-macule"
      },
      {
        "slug": "hyporeflexia-of-upper-limbs",
        "name": "Hyporeflexia of upper limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia-of-upper-limbs"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "multifocal-epileptiform-discharges",
        "name": "Multifocal epileptiform discharges",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multifocal-epileptiform-discharges"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "pgap2",
        "symbol": "PGAP2",
        "name": "post-GPI attachment to proteins 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pgap2"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pgap3"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/piga"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigg"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigl"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pign"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigo"
      },
      {
        "slug": "pigt",
        "symbol": "PIGT",
        "name": "phosphatidylinositol glycan anchor biosynthesis class T",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigt"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigv"
      },
      {
        "slug": "pigw",
        "symbol": "PIGW",
        "name": "phosphatidylinositol glycan anchor biosynthesis class W",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigw"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pigy"
      },
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/a4galt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}