{
  "url": "https://dantelabs.com/sv/genes/mcfd2",
  "gene": {
    "slug": "mcfd2",
    "symbol": "MCFD2",
    "name": "multiple coagulation factor deficiency 2, ER cargo receptor complex subunit",
    "hgnc": "HGNC:18451",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
      "F5F8D",
      "LMAN1IP",
      "SDNSF"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000180398",
    "entrezId": 90411,
    "omim": [
      "607788"
    ],
    "uniprot": [
      "Q8NI22"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 46901874,
      "end": 46915806,
      "strand": "-",
      "ensemblTranscript": "ENST00000319466.9",
      "refseqTranscript": "NM_139279.6",
      "ensemblProtein": "ENSP00000317271.4",
      "refseqProtein": "NP_644808.1",
      "exons": [
        {
          "start": 46901874,
          "end": 46905594
        },
        {
          "start": 46907810,
          "end": 46907969
        },
        {
          "start": 46909023,
          "end": 46909177
        },
        {
          "start": 46915723,
          "end": 46915806
        }
      ],
      "cds": {
        "start": 46905463,
        "end": 46909171
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 47129009,
      "end": 47168994,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 46408840,
      "end": 47408839,
      "genes": [
        {
          "symbol": "TMEM247",
          "ensemblId": "ENSG00000284701",
          "biotype": "protein_coding",
          "start": 46479565,
          "end": 46484425,
          "strand": "+",
          "slug": "tmem247"
        },
        {
          "symbol": "ATP6V1E2",
          "ensemblId": "ENSG00000250565",
          "biotype": "protein_coding",
          "start": 46490750,
          "end": 46543287,
          "strand": "-",
          "slug": "atp6v1e2"
        },
        {
          "symbol": "RHOQ",
          "ensemblId": "ENSG00000119729",
          "biotype": "protein_coding",
          "start": 46541806,
          "end": 46602046,
          "strand": "+",
          "slug": "rhoq"
        },
        {
          "symbol": "PIGF",
          "ensemblId": "ENSG00000151665",
          "biotype": "protein_coding",
          "start": 46580937,
          "end": 46617067,
          "strand": "-",
          "slug": "pigf"
        },
        {
          "symbol": "CRIPT",
          "ensemblId": "ENSG00000119878",
          "biotype": "protein_coding",
          "start": 46616416,
          "end": 46685037,
          "strand": "+",
          "slug": "cript"
        },
        {
          "symbol": "SOCS5",
          "ensemblId": "ENSG00000171150",
          "biotype": "protein_coding",
          "start": 46698423,
          "end": 46781466,
          "strand": "+",
          "slug": "socs5"
        },
        {
          "symbol": "TTC7A",
          "ensemblId": "ENSG00000068724",
          "biotype": "protein_coding",
          "start": 46915869,
          "end": 47076137,
          "strand": "+",
          "slug": "ttc7a"
        },
        {
          "symbol": "STPG4",
          "ensemblId": "ENSG00000239605",
          "biotype": "protein_coding",
          "start": 47045538,
          "end": 47155308,
          "strand": "-",
          "slug": "stpg4"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273269",
          "biotype": "protein_coding",
          "start": 47065941,
          "end": 47176511,
          "strand": "-"
        },
        {
          "symbol": "CALM2",
          "ensemblId": "ENSG00000143933",
          "biotype": "protein_coding",
          "start": 47160084,
          "end": 47176921,
          "strand": "-",
          "slug": "calm2"
        },
        {
          "symbol": "EPCAM",
          "ensemblId": "ENSG00000119888",
          "biotype": "protein_coding",
          "start": 47345158,
          "end": 47387601,
          "strand": "+",
          "slug": "epcam"
        },
        {
          "symbol": "MSH2",
          "ensemblId": "ENSG00000095002",
          "biotype": "protein_coding",
          "start": 47403067,
          "end": 47663146,
          "strand": "+",
          "slug": "msh2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-inherited-coagulation-factor-deficiencies",
        "name": "Sällsynta ärftliga brister i koagulationsfaktorer",
        "diseases": [
          {
            "mondoId": "MONDO:0018175",
            "name": "Kombinerad brist på faktor V och faktor VIII",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Lindrig till måttlig blödning orsakad av nedsatta nivåer av både faktor V och faktor VIII, på grund av förändringar i LMAN1 eller MCFD2, som hjälper till att transportera dessa faktorer ut ur de celler som tillverkar dem.",
            "management": "Om du känner till det kan behandlingen planeras inför operation, tandvård och förlossning.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/rare-inherited-coagulation-factor-deficiencies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "menorrhagia",
        "name": "Abnormally heavy bleeding during menstruation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/menorrhagia"
      },
      {
        "slug": "gingival-bleeding",
        "name": "Bleeding gums",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingival-bleeding"
      },
      {
        "slug": "bleeding-with-minor-or-no-trauma",
        "name": "Bleeding with minor or no trauma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bleeding-with-minor-or-no-trauma"
      },
      {
        "slug": "joint-hemorrhage",
        "name": "Bleeding within a joint",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hemorrhage"
      },
      {
        "slug": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "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/intracranial-hemorrhage"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "hyperlipidemia",
        "name": "Elevated lipids in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperlipidemia"
      },
      {
        "slug": "persistent-bleeding-after-trauma",
        "name": "Excessive bleeding after minor trauma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/persistent-bleeding-after-trauma"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "prolonged-bleeding-after-dental-extraction",
        "name": "Prolonged bleeding after dental extraction",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction"
      },
      {
        "slug": "prolonged-bleeding-after-surgery",
        "name": "Prolonged bleeding after surgery",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery"
      },
      {
        "slug": "prolonged-bleeding-following-circumcision",
        "name": "Prolonged bleeding following circumcision",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-following-circumcision"
      },
      {
        "slug": "prolonged-partial-thromboplastin-time",
        "name": "Prolonged partial thromboplastin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-partial-thromboplastin-time"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "reduced-coagulation-factor-v-activity",
        "name": "Reduced coagulation factor V activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-coagulation-factor-v-activity"
      },
      {
        "slug": "reduced-factor-viii-activity",
        "name": "Reduced factor VIII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-factor-viii-activity"
      }
    ],
    "related": [
      {
        "slug": "lman1",
        "symbol": "LMAN1",
        "name": "lectin, mannose binding 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/lman1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}