{
  "url": "https://dantelabs.com/hu/genes/mat2a",
  "gene": {
    "slug": "mat2a",
    "symbol": "MAT2A",
    "name": "methionine adenosyltransferase 2A",
    "hgnc": "HGNC:6904",
    "summary": null,
    "location": "2p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "SAMS2",
      "MATA2",
      "MATII",
      "MAT-II"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000168906",
    "entrezId": 4144,
    "omim": [
      "601468"
    ],
    "uniprot": [
      "P31153"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 85539168,
      "end": 85545281,
      "strand": "+",
      "ensemblTranscript": "ENST00000306434.8",
      "refseqTranscript": "NM_005911.6",
      "ensemblProtein": "ENSP00000303147.3",
      "refseqProtein": "NP_005902.1",
      "exons": [
        {
          "start": 85539168,
          "end": 85539378
        },
        {
          "start": 85541083,
          "end": 85541160
        },
        {
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        },
        {
          "start": 85541633,
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        },
        {
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        },
        {
          "start": 85542155,
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        },
        {
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        },
        {
          "start": 85542901,
          "end": 85543034
        },
        {
          "start": 85543670,
          "end": 85545281
        }
      ],
      "cds": {
        "start": 85539288,
        "end": 85543772
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 85766288,
      "end": 85772403,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 85042225,
      "end": 86042224,
      "genes": [
        {
          "symbol": "KCMF1",
          "ensemblId": "ENSG00000176407",
          "biotype": "protein_coding",
          "start": 84971093,
          "end": 85059472,
          "strand": "+",
          "slug": "kcmf1"
        },
        {
          "symbol": "TCF7L1",
          "ensemblId": "ENSG00000152284",
          "biotype": "protein_coding",
          "start": 85133348,
          "end": 85310388,
          "strand": "+",
          "slug": "tcf7l1"
        },
        {
          "symbol": "TGOLN2",
          "ensemblId": "ENSG00000152291",
          "biotype": "protein_coding",
          "start": 85311668,
          "end": 85328301,
          "strand": "-",
          "slug": "tgoln2"
        },
        {
          "symbol": "RETSAT",
          "ensemblId": "ENSG00000042445",
          "biotype": "protein_coding",
          "start": 85341948,
          "end": 85354655,
          "strand": "-",
          "slug": "retsat"
        },
        {
          "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": "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": "ST3GAL5",
          "ensemblId": "ENSG00000115525",
          "biotype": "protein_coding",
          "start": 85837120,
          "end": 85905199,
          "strand": "-",
          "slug": "st3gal5"
        },
        {
          "symbol": "POLR1A",
          "ensemblId": "ENSG00000068654",
          "biotype": "protein_coding",
          "start": 86020216,
          "end": 86106155,
          "strand": "-",
          "slug": "polr1a"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-aortic-aneurysm",
        "name": "Abdominal aortic aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm"
      },
      {
        "slug": "abnormal-left-ventricular-function",
        "name": "Abnormal left ventricular function",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function"
      },
      {
        "slug": "abnormality-of-connective-tissue",
        "name": "Abnormality of connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "bicuspid-aortic-valve",
        "name": "Aortic valve has two leaflets rather than three",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bicuspid-aortic-valve"
      },
      {
        "slug": "ascending-aortic-dissection",
        "name": "Ascending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascending-aortic-dissection"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "aortic-root-aneurysm",
        "name": "Bulge in wall of root of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-root-aneurysm"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "hemoptysis",
        "name": "Coughing up blood",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemoptysis"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "hypovolemia",
        "name": "Depleted blood volume",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypovolemia"
      },
      {
        "slug": "descending-aortic-dissection",
        "name": "Descending aortic dissection",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/descending-aortic-dissection"
      },
      {
        "slug": "descending-thoracic-aorta-aneurysm",
        "name": "Descending thoracic aorta aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/descending-thoracic-aorta-aneurysm"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dural-ectasia",
        "name": "Dural ectasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dural-ectasia"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "ischemic-stroke",
        "name": "Ischemic stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ischemic-stroke"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "transient-ischemic-attack",
        "name": "Mini stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/transient-ischemic-attack"
      },
      {
        "slug": "mucoid-extracellular-matrix-accumulation",
        "name": "Mucoid extracellular matrix accumulation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mucoid-extracellular-matrix-accumulation"
      },
      {
        "slug": "paroxysmal-dyspnea",
        "name": "Paroxysmal dyspnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-dyspnea"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "peripheral-arterial-stenosis",
        "name": "Peripheral arterial stenosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "subarachnoid-hemorrhage",
        "name": "Subarachnoid hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "aortic-dissection",
        "name": "Tear in inner wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-dissection"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}