{
  "url": "https://dantelabs.com/el/genes/actg2",
  "gene": {
    "slug": "actg2",
    "symbol": "ACTG2",
    "name": "actin gamma 2, smooth muscle",
    "hgnc": "HGNC:145",
    "summary": null,
    "location": "2p13.1",
    "locusType": "gene with protein product",
    "aliases": [
      "ACTSG"
    ],
    "previousSymbols": [
      "ACTL3",
      "ACTA3"
    ],
    "ensemblId": "ENSG00000163017",
    "entrezId": 72,
    "omim": [
      "102545"
    ],
    "uniprot": [
      "P63267"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 73893008,
      "end": 73919865,
      "strand": "+",
      "ensemblTranscript": "ENST00000345517.8",
      "refseqTranscript": "NM_001615.4",
      "ensemblProtein": "ENSP00000295137.3",
      "refseqProtein": "NP_001606.1",
      "exons": [
        {
          "start": 73893008,
          "end": 73893051
        },
        {
          "start": 73901276,
          "end": 73901437
        },
        {
          "start": 73902360,
          "end": 73902488
        },
        {
          "start": 73908673,
          "end": 73908783
        },
        {
          "start": 73909055,
          "end": 73909139
        },
        {
          "start": 73913485,
          "end": 73913646
        },
        {
          "start": 73914680,
          "end": 73914871
        },
        {
          "start": 73916584,
          "end": 73916765
        },
        {
          "start": 73919432,
          "end": 73919865
        }
      ],
      "cds": {
        "start": 73901312,
        "end": 73919575
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 74119441,
      "end": 74146992,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 73406437,
      "end": 74406436,
      "genes": [
        {
          "symbol": "ALMS1",
          "ensemblId": "ENSG00000116127",
          "biotype": "protein_coding",
          "start": 73385758,
          "end": 73625166,
          "strand": "+",
          "slug": "alms1"
        },
        {
          "symbol": "NAT8",
          "ensemblId": "ENSG00000144035",
          "biotype": "protein_coding",
          "start": 73640723,
          "end": 73643229,
          "strand": "-",
          "slug": "nat8"
        },
        {
          "symbol": "TPRKB",
          "ensemblId": "ENSG00000144034",
          "biotype": "protein_coding",
          "start": 73709704,
          "end": 73737421,
          "strand": "-",
          "slug": "tprkb"
        },
        {
          "symbol": "DUSP11",
          "ensemblId": "ENSG00000144048",
          "biotype": "protein_coding",
          "start": 73761782,
          "end": 73780173,
          "strand": "-",
          "slug": "dusp11"
        },
        {
          "symbol": "C2orf78",
          "ensemblId": "ENSG00000187833",
          "biotype": "protein_coding",
          "start": 73784183,
          "end": 73817148,
          "strand": "+",
          "slug": "c2orf78"
        },
        {
          "symbol": "STAMBP",
          "ensemblId": "ENSG00000124356",
          "biotype": "protein_coding",
          "start": 73828916,
          "end": 73873670,
          "strand": "+",
          "slug": "stambp"
        },
        {
          "symbol": "DGUOK",
          "ensemblId": "ENSG00000114956",
          "biotype": "protein_coding",
          "start": 73926794,
          "end": 73958961,
          "strand": "+",
          "slug": "dguok"
        },
        {
          "symbol": "TET3",
          "ensemblId": "ENSG00000187605",
          "biotype": "protein_coding",
          "start": 73984910,
          "end": 74108177,
          "strand": "+",
          "slug": "tet3"
        },
        {
          "symbol": "BOLA3",
          "ensemblId": "ENSG00000163170",
          "biotype": "protein_coding",
          "start": 74133333,
          "end": 74147977,
          "strand": "-",
          "slug": "bola3"
        },
        {
          "symbol": "MOB1A",
          "ensemblId": "ENSG00000114978",
          "biotype": "protein_coding",
          "start": 74152528,
          "end": 74178932,
          "strand": "-",
          "slug": "mob1a"
        },
        {
          "symbol": "MTHFD2",
          "ensemblId": "ENSG00000065911",
          "biotype": "protein_coding",
          "start": 74186172,
          "end": 74218432,
          "strand": "+",
          "slug": "mthfd2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000264324",
          "biotype": "protein_coding",
          "start": 74211604,
          "end": 74363377,
          "strand": "-"
        },
        {
          "symbol": "SLC4A5",
          "ensemblId": "ENSG00000188687",
          "biotype": "protein_coding",
          "start": 74216242,
          "end": 74343416,
          "strand": "-",
          "slug": "slc4a5"
        },
        {
          "symbol": "DCTN1",
          "ensemblId": "ENSG00000204843",
          "biotype": "protein_coding",
          "start": 74361154,
          "end": 74392087,
          "strand": "-",
          "slug": "dctn1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000159239",
          "biotype": "protein_coding",
          "start": 74393836,
          "end": 74421662,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction",
        "name": "Κληρονομική σπλαγχνική μυοπάθεια, CIPO και MMIHS",
        "diseases": [
          {
            "mondoId": "MONDO:0016829",
            "name": "Οικογενής σπλαγχνική μυοπάθεια",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Διαταραχή των λείων μυών του εντέρου και της ουροδόχου κύστης, που συχνότερα προκαλείται από παραλλαγές του ACTG2, οι οποίες συχνά εμφανίζονται για πρώτη φορά στο προσβεβλημένο άτομο.",
            "management": "Μια γενετική διάγνωση μπορεί να σας απαλλάξει από περιττές χειρουργικές επεμβάσεις στην κοιλιά και να καθοδηγήσει τη διατροφική φροντίδα και τη φροντίδα της ουροδόχου κύστης.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-visceral-myopathy-and-intestinal-pseudo-obstruction"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abdominal-situs-inversus",
        "name": "Abdominal situs inversus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-situs-inversus"
      },
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormality-of-the-gastrointestinal-tract",
        "name": "Abnormality of the gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-gastrointestinal-tract"
      },
      {
        "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": "anonychia",
        "name": "Absent nails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anonychia"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-abdominal-wall-musculature",
        "name": "Absent/small abdominal wall muscles",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "gastroparesis",
        "name": "Delayed gastric emptying",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastroparesis"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "hyperparathyroidism",
        "name": "Elevated blood parathyroid hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperparathyroidism"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "neoplasm-of-the-heart",
        "name": "Heart tumor",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-heart"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hypoperistalsis",
        "name": "Hypoperistalsis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoperistalsis"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "intestinal-malrotation",
        "name": "Intestinal malrotation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intestinal-malrotation"
      },
      {
        "slug": "intestinal-pseudo-obstruction",
        "name": "Intestinal pseudo-obstruction",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intestinal-pseudo-obstruction"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "malnutrition",
        "name": "Malnutrition",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malnutrition"
      },
      {
        "slug": "megacystis",
        "name": "Megacystis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megacystis"
      },
      {
        "slug": "megaduodenum",
        "name": "Megaduodenum",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/megaduodenum"
      },
      {
        "slug": "microcolon",
        "name": "Microcolon",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcolon"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "round-face",
        "name": "Round face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/round-face"
      },
      {
        "slug": "thinning-of-outer-muscular-layer-of-small-bowel",
        "name": "Thinning of outer muscular layer of small bowel",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/thinning-of-outer-muscular-layer-of-small-bowel"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "urinary-retention",
        "name": "Urinary retention",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urinary-retention"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}