{
  "url": "https://dantelabs.com/lt/genes/marveld2",
  "gene": {
    "slug": "marveld2",
    "symbol": "MARVELD2",
    "name": "MARVEL domain containing 2",
    "hgnc": "HGNC:26401",
    "summary": null,
    "location": "5q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ30532",
      "TRIC"
    ],
    "previousSymbols": [
      "MRVLDC2",
      "DFNB49"
    ],
    "ensemblId": "ENSG00000152939",
    "entrezId": 153562,
    "omim": [
      "610572"
    ],
    "uniprot": [
      "Q8N4S9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
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      "end": 69444330,
      "strand": "+",
      "ensemblTranscript": "ENST00000325631.10",
      "refseqTranscript": "NM_001038603.3",
      "ensemblProtein": "ENSP00000323264.5",
      "refseqProtein": "NP_001033692.2",
      "exons": [
        {
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        },
        {
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        },
        {
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        }
      ],
      "cds": {
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        "end": 69441654
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 68710939,
      "end": 68740157,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 69929722,
      "genes": [
        {
          "symbol": "SLC30A5",
          "ensemblId": "ENSG00000145740",
          "biotype": "protein_coding",
          "start": 69093917,
          "end": 69156940,
          "strand": "+",
          "slug": "slc30a5"
        },
        {
          "symbol": "CCNB1",
          "ensemblId": "ENSG00000134057",
          "biotype": "protein_coding",
          "start": 69167004,
          "end": 69178389,
          "strand": "+",
          "slug": "ccnb1"
        },
        {
          "symbol": "CENPH",
          "ensemblId": "ENSG00000153044",
          "biotype": "protein_coding",
          "start": 69189537,
          "end": 69210357,
          "strand": "+",
          "slug": "cenph"
        },
        {
          "symbol": "KGD4",
          "ensemblId": "ENSG00000134056",
          "biotype": "protein_coding",
          "start": 69217712,
          "end": 69231410,
          "strand": "+",
          "slug": "kgd4"
        },
        {
          "symbol": "CDK7",
          "ensemblId": "ENSG00000134058",
          "biotype": "protein_coding",
          "start": 69234550,
          "end": 69277495,
          "strand": "+",
          "slug": "cdk7"
        },
        {
          "symbol": "CCDC125",
          "ensemblId": "ENSG00000183323",
          "biotype": "protein_coding",
          "start": 69279859,
          "end": 69332828,
          "strand": "-",
          "slug": "ccdc125"
        },
        {
          "symbol": "AK6",
          "ensemblId": "ENSG00000085231",
          "biotype": "protein_coding",
          "start": 69333643,
          "end": 69370026,
          "strand": "-",
          "slug": "ak6"
        },
        {
          "symbol": "TAF9",
          "ensemblId": "ENSG00000273841",
          "biotype": "protein_coding",
          "start": 69362026,
          "end": 69370026,
          "strand": "-",
          "slug": "taf9"
        },
        {
          "symbol": "RAD17",
          "ensemblId": "ENSG00000152942",
          "biotype": "protein_coding",
          "start": 69369293,
          "end": 69414806,
          "strand": "+",
          "slug": "rad17"
        },
        {
          "symbol": "OCLN",
          "ensemblId": "ENSG00000197822",
          "biotype": "protein_coding",
          "start": 69492184,
          "end": 69558114,
          "strand": "+",
          "slug": "ocln"
        },
        {
          "symbol": "GTF2H2C",
          "ensemblId": "ENSG00000183474",
          "biotype": "protein_coding",
          "start": 69558392,
          "end": 69595221,
          "strand": "+",
          "slug": "gtf2h2c"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000250138",
          "biotype": "protein_coding",
          "start": 69632080,
          "end": 69636399,
          "strand": "+"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000251158",
          "biotype": "protein_coding",
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          "end": 69903085,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Klausos ir kurtumas",
        "diseases": [
          {
            "mondoId": "MONDO:0019497",
            "name": "Nesindrominė paveldima klausos netekimas",
            "genes": 97,
            "inheritance": null,
            "description": "Paveldimas klausos netekimas be kitų medicininių požymių, įskaitant dažniausias recesyvines formas, kurias sukelia GJB2, OTOF, SLC26A4, STRC ir daugelis kitų genų, taip pat dominantines, X chromosomai susietas ir mitochondrines formas.",
            "management": "Žinojimas apie genetinę priežastį gali padėti priimti sprendimus dėl klausos pagalbos ir kochlearinio implanto, nustatyti tinkamumą genų terapijos tyrimams (pavyzdžiui, OTOF) bei suteikti konsultacijas šeimai.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/hearing-loss-and-deafness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "prelingual-sensorineural-hearing-impairment",
        "name": "Prelingual sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/prelingual-sensorineural-hearing-impairment"
      }
    ],
    "related": [
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/actg1"
      },
      {
        "slug": "afg2b",
        "symbol": "AFG2B",
        "name": "AAA ATPase AFG2B",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/afg2b"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aifm1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp11a"
      },
      {
        "slug": "atp2b2",
        "symbol": "ATP2B2",
        "name": "ATPase plasma membrane Ca2+ transporting 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp2b2"
      },
      {
        "slug": "cabp2",
        "symbol": "CABP2",
        "name": "calcium binding protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cabp2"
      },
      {
        "slug": "cd164",
        "symbol": "CD164",
        "name": "CD164 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cd164"
      },
      {
        "slug": "cdc14a",
        "symbol": "CDC14A",
        "name": "cell division cycle 14A",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cdc14a"
      },
      {
        "slug": "cdh23",
        "symbol": "CDH23",
        "name": "cadherin related 23",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cdh23"
      },
      {
        "slug": "ceacam16",
        "symbol": "CEACAM16",
        "name": "CEA cell adhesion molecule 16, tectorial membrane component",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ceacam16"
      },
      {
        "slug": "cib2",
        "symbol": "CIB2",
        "name": "calcium and integrin binding family member 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cib2"
      },
      {
        "slug": "cldn14",
        "symbol": "CLDN14",
        "name": "claudin 14",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cldn14"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}