{
  "url": "https://dantelabs.com/es/genes/eftud2",
  "gene": {
    "slug": "eftud2",
    "symbol": "EFTUD2",
    "name": "elongation factor Tu GTP binding domain containing 2",
    "hgnc": "HGNC:30858",
    "summary": null,
    "location": "17q21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "U5-116KD",
      "Snrp116",
      "Snu114",
      "SNRNP116"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000108883",
    "entrezId": 9343,
    "omim": [
      "603892"
    ],
    "uniprot": [
      "Q15029"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 44849948,
      "end": 44899445,
      "strand": "-",
      "ensemblTranscript": "ENST00000426333.7",
      "refseqTranscript": "NM_004247.4",
      "ensemblProtein": "ENSP00000392094.1",
      "refseqProtein": "NP_004238.3",
      "exons": [
        {
          "start": 44849948,
          "end": 44851369
        },
        {
          "start": 44851710,
          "end": 44851817
        },
        {
          "start": 44852409,
          "end": 44852562
        },
        {
          "start": 44853296,
          "end": 44853390
        },
        {
          "start": 44853517,
          "end": 44853635
        },
        {
          "start": 44854269,
          "end": 44854356
        },
        {
          "start": 44854556,
          "end": 44854682
        },
        {
          "start": 44854918,
          "end": 44855004
        },
        {
          "start": 44857075,
          "end": 44857157
        },
        {
          "start": 44859080,
          "end": 44859181
        },
        {
          "start": 44859905,
          "end": 44860045
        },
        {
          "start": 44860432,
          "end": 44860543
        },
        {
          "start": 44862713,
          "end": 44862906
        },
        {
          "start": 44863655,
          "end": 44863782
        },
        {
          "start": 44864930,
          "end": 44865065
        },
        {
          "start": 44867807,
          "end": 44867897
        },
        {
          "start": 44868287,
          "end": 44868350
        },
        {
          "start": 44872446,
          "end": 44872570
        },
        {
          "start": 44875934,
          "end": 44876100
        },
        {
          "start": 44879556,
          "end": 44879638
        },
        {
          "start": 44880554,
          "end": 44880644
        },
        {
          "start": 44881687,
          "end": 44881722
        },
        {
          "start": 44883093,
          "end": 44883158
        },
        {
          "start": 44883649,
          "end": 44883724
        },
        {
          "start": 44885256,
          "end": 44885334
        },
        {
          "start": 44886585,
          "end": 44886750
        },
        {
          "start": 44894417,
          "end": 44894525
        },
        {
          "start": 44899369,
          "end": 44899445
        }
      ],
      "cds": {
        "start": 44851274,
        "end": 44894521
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
      "start": 42927311,
      "end": 42977030,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 44374697,
      "end": 45374696,
      "genes": [
        {
          "symbol": "ITGA2B",
          "ensemblId": "ENSG00000005961",
          "biotype": "protein_coding",
          "start": 44372177,
          "end": 44389649,
          "strand": "-",
          "slug": "itga2b"
        },
        {
          "symbol": "GPATCH8",
          "ensemblId": "ENSG00000186566",
          "biotype": "protein_coding",
          "start": 44395281,
          "end": 44503639,
          "strand": "-",
          "slug": "gpatch8"
        },
        {
          "symbol": "FZD2",
          "ensemblId": "ENSG00000180340",
          "biotype": "protein_coding",
          "start": 44557484,
          "end": 44561262,
          "strand": "+",
          "slug": "fzd2"
        },
        {
          "symbol": "MEIOC",
          "ensemblId": "ENSG00000180336",
          "biotype": "protein_coding",
          "start": 44656363,
          "end": 44690308,
          "strand": "+",
          "slug": "meioc"
        },
        {
          "symbol": "CCDC43",
          "ensemblId": "ENSG00000180329",
          "biotype": "protein_coding",
          "start": 44671063,
          "end": 44689831,
          "strand": "-",
          "slug": "ccdc43"
        },
        {
          "symbol": "DBF4B",
          "ensemblId": "ENSG00000161692",
          "biotype": "protein_coding",
          "start": 44708595,
          "end": 44752269,
          "strand": "+",
          "slug": "dbf4b"
        },
        {
          "symbol": "ADAM11",
          "ensemblId": "ENSG00000073670",
          "biotype": "protein_coding",
          "start": 44758962,
          "end": 44781846,
          "strand": "+",
          "slug": "adam11"
        },
        {
          "symbol": "GJC1",
          "ensemblId": "ENSG00000182963",
          "biotype": "protein_coding",
          "start": 44798448,
          "end": 44831496,
          "strand": "-",
          "slug": "gjc1"
        },
        {
          "symbol": "HIGD1B",
          "ensemblId": "ENSG00000131097",
          "biotype": "protein_coding",
          "start": 44844763,
          "end": 44850480,
          "strand": "+",
          "slug": "higd1b"
        },
        {
          "symbol": "DNAAF19",
          "ensemblId": "ENSG00000167131",
          "biotype": "protein_coding",
          "start": 44889234,
          "end": 44905390,
          "strand": "+",
          "slug": "dnaaf19"
        },
        {
          "symbol": "GFAP",
          "ensemblId": "ENSG00000131095",
          "biotype": "protein_coding",
          "start": 44903159,
          "end": 44916937,
          "strand": "-",
          "slug": "gfap"
        },
        {
          "symbol": "FAM187A",
          "ensemblId": "ENSG00000214447",
          "biotype": "protein_coding",
          "start": 44903433,
          "end": 44905390,
          "strand": "+",
          "slug": "fam187a"
        },
        {
          "symbol": "KIF18B",
          "ensemblId": "ENSG00000186185",
          "biotype": "protein_coding",
          "start": 44924707,
          "end": 44947781,
          "strand": "-",
          "slug": "kif18b"
        },
        {
          "symbol": "NMT1",
          "ensemblId": "ENSG00000136448",
          "biotype": "protein_coding",
          "start": 44957992,
          "end": 45109016,
          "strand": "+",
          "slug": "nmt1"
        },
        {
          "symbol": "C1QL1",
          "ensemblId": "ENSG00000131094",
          "biotype": "protein_coding",
          "start": 44958933,
          "end": 44968369,
          "strand": "-",
          "slug": "c1ql1"
        },
        {
          "symbol": "DCAKD",
          "ensemblId": "ENSG00000172992",
          "biotype": "protein_coding",
          "start": 45023338,
          "end": 45061137,
          "strand": "-",
          "slug": "dcakd"
        },
        {
          "symbol": "PLCD3",
          "ensemblId": "ENSG00000161714",
          "biotype": "protein_coding",
          "start": 45108959,
          "end": 45133354,
          "strand": "-",
          "slug": "plcd3"
        },
        {
          "symbol": "ACBD4",
          "ensemblId": "ENSG00000181513",
          "biotype": "protein_coding",
          "start": 45132597,
          "end": 45144181,
          "strand": "+",
          "slug": "acbd4"
        },
        {
          "symbol": "HEXIM1",
          "ensemblId": "ENSG00000186834",
          "biotype": "protein_coding",
          "start": 45148475,
          "end": 45152099,
          "strand": "+",
          "slug": "hexim1"
        },
        {
          "symbol": "HEXIM2",
          "ensemblId": "ENSG00000168517",
          "biotype": "protein_coding",
          "start": 45160695,
          "end": 45170701,
          "strand": "+",
          "slug": "hexim2"
        },
        {
          "symbol": "FMNL1",
          "ensemblId": "ENSG00000184922",
          "biotype": "protein_coding",
          "start": 45220736,
          "end": 45247319,
          "strand": "+",
          "slug": "fmnl1"
        },
        {
          "symbol": "SPATA32",
          "ensemblId": "ENSG00000184361",
          "biotype": "protein_coding",
          "start": 45254388,
          "end": 45262116,
          "strand": "-",
          "slug": "spata32"
        },
        {
          "symbol": "MAP3K14",
          "ensemblId": "ENSG00000006062",
          "biotype": "protein_coding",
          "start": 45263119,
          "end": 45317112,
          "strand": "-",
          "slug": "map3k14"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-antihelix-morphology",
        "name": "Abnormal antihelix morphology",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-antihelix-morphology"
      },
      {
        "slug": "abnormality-of-the-outer-ear",
        "name": "Abnormality of the outer ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-outer-ear"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "atresia-of-the-external-auditory-canal",
        "name": "Absent ear canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal"
      },
      {
        "slug": "absent-tragus",
        "name": "Absent tragus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-tragus"
      },
      {
        "slug": "accessory-oral-frenulum",
        "name": "Accessory oral frenulum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/accessory-oral-frenulum"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "proximal-placement-of-thumb",
        "name": "Attachment of thumb close to wrist",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-placement-of-thumb"
      },
      {
        "slug": "esophageal-atresia",
        "name": "Birth defect in which part of esophagus did not develop",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-atresia"
      },
      {
        "slug": "choanal-atresia",
        "name": "Blockage of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/choanal-atresia"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "telecanthus",
        "name": "Corners of eye widely separated",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/telecanthus"
      },
      {
        "slug": "hypoplasia-of-the-maxilla",
        "name": "Decreased size of maxilla",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla"
      },
      {
        "slug": "deep-philtrum",
        "name": "Deep philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/deep-philtrum"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "secondary-microcephaly",
        "name": "Development of small head that was not present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/secondary-microcephaly"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "preaxial-hand-polydactyly",
        "name": "Extra thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "large-earlobe",
        "name": "Large earlobe",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-earlobe"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "mandibulofacial-dysostosis",
        "name": "Mandibulofacial dysostosis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibulofacial-dysostosis"
      },
      {
        "slug": "abnormal-middle-ear-morphology",
        "name": "Middle ear malformation",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-middle-ear-morphology"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "overfolded-helix",
        "name": "Overfolded ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/overfolded-helix"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "short-nose",
        "name": "Short nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-nose"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "preauricular-skin-tag",
        "name": "Skin tag in front of the ear",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/preauricular-skin-tag"
      },
      {
        "slug": "slender-finger",
        "name": "Slender finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/slender-finger"
      },
      {
        "slug": "microtia",
        "name": "Small ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microtia"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "underdeveloped-tragus",
        "name": "Underdeveloped tragus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-tragus"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}