{
  "url": "https://dantelabs.com/el/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": "Διαταραχές της βιοσύνθεσης της άγκυρας GPI",
        "diseases": [
          {
            "mondoId": "MONDO:0024321",
            "name": "Διαταραχές της βιοσύνθεσης της άγκυρας GPI",
            "genes": 20,
            "inheritance": null,
            "description": "Ομάδα κληρονομικών παθήσεων που προκαλούνται από παραλλαγές στα γονίδια PIG, PGAP και σχετικά γονίδια που απαιτούνται για τη σύνθεση και τη σύνδεση της άγκυρας GPI, και που συνήθως προκαλούν καθυστέρηση ανάπτυξης, χαμηλό μυϊκό τόνο και επιληψία.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/gpi-anchor-biosynthesis-defects"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Συγγενείς διαταραχές της γλυκοζυλίωσης (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Μια μεγάλη ομάδα κληρονομικών παθήσεων κατά τις οποίες οι αλυσίδες σακχάρων (γλυκάνες) δεν σχηματίζονται ή δεν προσδένονται σωστά στις πρωτεΐνες και στα λιπίδια, συχνά επηρεάζοντας τον εγκέφαλο, το ήπαρ, την πήξη του αίματος, την ανάπτυξη και πολλά άλλα συστήματα του οργανισμού. Οι περισσότερες είναι αυτοσωματικές υπολειπόμενες, ενώ ορισμένες είναι συνδεδεμένες με το X ή αυτοσωματικές επικρατούσες.",
            "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/el/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/el/genes/pgap2"
      },
      {
        "slug": "pgap3",
        "symbol": "PGAP3",
        "name": "post-GPI attachment to proteins phospholipase 3",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pgap3"
      },
      {
        "slug": "piga",
        "symbol": "PIGA",
        "name": "phosphatidylinositol glycan anchor biosynthesis class A",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/piga"
      },
      {
        "slug": "pigg",
        "symbol": "PIGG",
        "name": "phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigg"
      },
      {
        "slug": "pigl",
        "symbol": "PIGL",
        "name": "phosphatidylinositol glycan anchor biosynthesis class L",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigl"
      },
      {
        "slug": "pign",
        "symbol": "PIGN",
        "name": "phosphatidylinositol glycan anchor biosynthesis class N",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pign"
      },
      {
        "slug": "pigo",
        "symbol": "PIGO",
        "name": "phosphatidylinositol glycan anchor biosynthesis class O",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigo"
      },
      {
        "slug": "pigt",
        "symbol": "PIGT",
        "name": "phosphatidylinositol glycan anchor biosynthesis class T",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigt"
      },
      {
        "slug": "pigv",
        "symbol": "PIGV",
        "name": "phosphatidylinositol glycan anchor biosynthesis class V",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigv"
      },
      {
        "slug": "pigw",
        "symbol": "PIGW",
        "name": "phosphatidylinositol glycan anchor biosynthesis class W",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigw"
      },
      {
        "slug": "pigy",
        "symbol": "PIGY",
        "name": "phosphatidylinositol glycan anchor biosynthesis class Y",
        "shared": 2,
        "url": "https://dantelabs.com/el/genes/pigy"
      },
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/a4galt"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}